AZOOSPERMIA Chromosome Y

Size: px
Start display at page:

Download "AZOOSPERMIA Chromosome Y"

Transcription

1 AZOOSPERMIA Chromosome Y M i c r o d e l e t i o n Ref.: PI EDP testspi EDP002024

2 1. INTRODUCTION In 1976, Tiepolo and Zuffardi reported de novo, microscopically detectable deletions of the distal half of Yq in four men with azoo-spermia, and on this basis they postulated the existence of one or more critical Yq genes for spermatogenesis. In recent years, this azoospermia factor (AZF) hypothesis has been widely validated. Exploiting the availability of comprehensive DNA probe based physical maps of the Y chromosome, investigators have reported many interstitial Yq deletions in infertile men with normal karyotypes. In particular, overlapping de novo deletions within intervals 6D 6E of the Y chromosome have been shown to cause at least 13% of cases of nonobstructive azoospermia and some cases of severe oligospermia as well. Three nonoverlapping regions of microdeletions in Yq11 (AZFa, AZFb, and AZFc) have been identifi ed that are probably responsible for azoospermia or oligozoospermia. The candidate gene for the expression of AZFc is called DAZ (Deleted In AZoospermia). Since the DAZ gene is absent in some men with azoospermia or severe oligospermia, it is an attractive candidate for azoospermia. In many reports, the screening program was based mainly on a multiplex polymerase chain reaction (PCR) approach with use of a series of Y- specifi c primers amplifying single DNA loci in Yq11 (i.e., sy254 and sy255) (2 4). A sequence-tagged site was considered absent only after at least three amplifi cation failures in the presence of successful amplifi cation of the control. Even if this strategy requires precautions to minimize the number of false-negative or false-positive results, the diffusion of PCR technology has rendered the molecular diagnostic of Y-chromosomal microdeletion popular and affordable. 2. PRINCIPLE OF THE METHOD AND TARGET DNA SEQUENCES The kit consists of one Master Mix and three Oligo mixes 1, 2 and 3. The assay wants to check the presence of all the three regions AZFa, AZFb, AZFc on chromosome Y. To do that, OLIGO MIX 1 and OLIGO MIX 2 are prepared to amplifi ed two STS for each region and a fragment as control of amplifi cation. In particular, OLIGO MIX 1 amplifi es sy86 (AZFa), sy127 (AZFb), sy254 (AZFc), and ZFX/ZFY as control of the amplifi cation, whereas OLIGO MIX 2 amplifi es sy84 (AZFa), sy134 (AZFb), sy255 (AZFc), and ZFX/ZFY as control of the amplifi cation. The strategy to check for the two STS for each AZF region in two different tubes is to minimize the possibility of an incorrect diagnosis 2 PI-EDP003024/r0/0106/424

3 due to an ineffi cient amplifi cation in one tube. OLIGO MIX 3 is prepared to verify the presence of the SRY gene as a control of Y specifi c sequences when ZFY gene is absent (i.e. in XX males). If all the fragments are amplifi ed, no microdeletion is detected. In presence of the microdeletion of one or more regions, usually both STS contained in that region fail to amplify. If all the fragments fail to amplify, could be useful for the diagnosis to test the sample for the presence of SRY gene (OLIGO MIX 3). 3. KIT CONTENT 2x Amplifi cation Mix Oligo MIX 1 (40 test) Oligo MIX 2 (40 test) Oligo Mix 3 (20 test) Male control DNA Female control DNA Blank control. 4. Equipment and materials required but not provided Micropipette 1-10µl Micropipette µl Filter tips 1-10µl and µl Rack for 0.2 ml tubes Thermalcycler with block for 0.2 ml tubes 0,2 ml tubes 4% agarose gel Uv box Horizontal electrophoresis tank Power supply Vortex 5. STORAGE AND STABILITY Twelve months at 2 C 8 C. 6. Assay Procedure a) Save on your thermal cycler the following amplifi cation program: PI-EDP003024/r0/0106/424 3

4 Temperature Time Cycles 94 C 10 min C 1 minute 60 C 30 seconds C 60 seconds b) For every test run, prepare a PCR mix considering the two DNA controls included in the kit, one blank sample and a number of genomic DNA samples plus one. Mix all reagents together as follow: REAGENT VOLUME (µl) 2X Amplifi cation mix 10 Oligo Mix 10 DNA Template 5 (about 200ng) For genomic DNA extraction Euroclone strongly recommends the use of Fassst DNA Releaser. See Euroclone related products section (point 9). c) Prepare a PCR mix for every oligo mix. Dispense 10 ul of Amplifi cation Mix + 10ul of oligo mix in a PCR tube; add 5ul of DNA template (genomic DNA or control DNA or Blank) and insert the test tubes in the thermal cycler previously set and start the thermocycling program. d) At the end of the amplifi cation, remove the reaction tubes from the thermal cycler and put them in a tube-holder. e) Load 15 µl of the PCR products in a 2.0 % agarose gel stained with 50 µg/ml ethidium bromide. f) Run the gel for approximately minutes at 60-80V. At the end of electrophoretic run, put the gel on a UV transilluminator (λ=256 nm) and take a picture of the gel 7. Interpretation t of results Legend Lane 1: marker Lane 2: blank Lane 3: female DNA Lane 4: normal male DNA Lane 5: deleted in AZFb DNA sample Lane 6: deleted in AZFc DNA sample 4 PI-EDP003024/r0/0106/424

5 See below table 1 and 2 : for each possible genotype it is shown the combination of fragments that must be amplifi ed in each PCR. Table 1 PI-EDP003024/r0/0106/424 5

6 Table 2 8. REFERENCES 1- Tiepolo L, Zuffardi O. Hum Genet 1976; 34: Reijo R et al. Nat Genet 1995; 10: Reijo R et al. Lancet 1996; 347: Simoni M et al. Fertil Steril 1997; 67: Kostiner DR et al. Human Reproduction 1998; 13: Vogt PH et al. Molecular Genetics 1996; 5: Simoni M et al. Laboratory guidelines for the molecular diagnosis of Y-chromosomal microdeletions. 6 PI-EDP003024/r0/0106/424

7 EUROCLONE RELATED PRODUCTS EDP HFE mutation detection system 24 tests EMK HLA B27 detection system 50 tests EMR FASSST DNA RELEASER 100 reactions Genomic DNA extraction kit EUROCLONE S.p.A. Life Sciences Division Via Lombardia, Siziano (PV) Italy Tel Fax info@euroclone.net Local distributor Euroclone S.p.A. has a Quality System certifi ed Dasa-Raegister in compliance with EN ISO 9001 (2000)

Citation for published version (APA): Lutke Holzik, M. F. (2007). Genetic predisposition to testicular cancer s.n.

Citation for published version (APA): Lutke Holzik, M. F. (2007). Genetic predisposition to testicular cancer s.n. University of Groningen Genetic predisposition to testicular cancer Lutke Holzik, Martijn Frederik IMPORTANT NOTE: You are advised to consult the publisher's version (publisher's PDF) if you wish to cite

More information

Elucigene Male Factor Infertility Products Guide to Interpretation

Elucigene Male Factor Infertility Products Guide to Interpretation Elucigene Male Factor Infertility Products Guide to Interpretation Manufactured by: Elucigene Diagnostics Citylabs Nelson Street Manchester M13 9NQ For Sales, Customer Service and Technical Support:- T:

More information

SALSA MLPA probemix P360-A1 Y-Chromosome Microdeletions Lot A

SALSA MLPA probemix P360-A1 Y-Chromosome Microdeletions Lot A SALSA MLPA probemix P360-A1 Y-Chromosome Microdeletions Lot A1-1011. This SALSA MLPA probemix is for basic research and intended for experienced MLPA users only! This probemix enables you to quantify genes

More information

Genetics Aspects of Male infertility

Genetics Aspects of Male infertility Genetics Aspects of Male infertility A. Ebrahimi, Molecular Genetic SM Kalantar, Prof. Molecular Cytogenetic Research & Clinical Centre for Infertility, Reproductive & Genetic Unit, Yazd Medical Sciences

More information

GENETIC TESTING: IN WHOM AND WHEN

GENETIC TESTING: IN WHOM AND WHEN GENETIC TESTING: IN WHOM AND WHEN Robert D Oates, M.D. Boston University School of Medicine My background in this field I was the first to link Cystic Fibrosis Mutations with Congenital Absence of the

More information

Product # Kit Components

Product # Kit Components 3430 Schmon Parkway Thorold, ON, Canada L2V 4Y6 Phone: (905) 227-8848 Fax: (905) 227-1061 Email: techsupport@norgenbiotek.com Pneumocystis jirovecii PCR Kit Product # 42820 Product Insert Background Information

More information

S.J.Qureshi 1, A.R.Ross 1, K.Ma 1, H.J.Cooke 1, M.A.M c lntyre 2, A.C.Chandley 1 and T.B.Hargreave Introduction

S.J.Qureshi 1, A.R.Ross 1, K.Ma 1, H.J.Cooke 1, M.A.M c lntyre 2, A.C.Chandley 1 and T.B.Hargreave Introduction Molecular Human Reproduction vol. no. pp. 775779, 1996 Polymerase chain reaction screening for Y chromosome microdeletions: a first step towards the diagnosis of geneticallydetermined spermatogenic failure

More information

AZF, SRY Microdeletions and Hormonal Disturbances among Azoospermic Iraqi men

AZF, SRY Microdeletions and Hormonal Disturbances among Azoospermic Iraqi men 92 Moyet Al-Faisal et al. IJPS Vol. 6, No.2, May-Aug 2010 Original Article AZF, SRY Microdeletions and Hormonal Disturbances among Azoospermic Iraqi men Abdul Hussein Moyet Al-Faisal 1*, Ali Fadel Alnajar

More information

Molecular screening for Yq microdeletion in men with idiopathic oligozoospermia and azoospermia

Molecular screening for Yq microdeletion in men with idiopathic oligozoospermia and azoospermia Molecular screening for Yq microdeletion in men with idiopathic oligozoospermia and azoospermia RIMA DADA, N P GUPTA* and K KUCHERIA Department of Anatomy and *Department of Urology, All India Institute

More information

202002, India Author affiliations

202002, India Author affiliations Copy number variation and microdeletions of the Y chromosome linked genes and loci across different categories of Indian infertile males Anju Kumari 1, Sandeep Kumar Yadav 1, M.M. Misro 2, Jamal Ahmad

More information

Kit Components Product # EP42720 (24 preps) MDx 2X PCR Master Mix 350 µl Cryptococcus neoformans Primer Mix 70 µl Cryptococcus neoformans Positive

Kit Components Product # EP42720 (24 preps) MDx 2X PCR Master Mix 350 µl Cryptococcus neoformans Primer Mix 70 µl Cryptococcus neoformans Positive 3430 Schmon Parkway Thorold, ON, Canada L2V 4Y6 Phone: 866-667-4362 (905) 227-8848 Fax: (905) 227-1061 Email: techsupport@norgenbiotek.com Cryptococcus neoformans End-Point PCR Kit Product# EP42720 Product

More information

Y CHROMOSOME MICRODELETION Detection System v.4.0

Y CHROMOSOME MICRODELETION Detection System v.4.0 Y CHROMOSOME MICRODELETION Detection System v.4.0 India Contact: Life Technologies (India) Pvt. Ltd. 306, Aggarwal City Mall, Opposite M2K Pitampura, Delhi 110034 (INDIA). Ph: +91-11-42208000, 42208111,

More information

Norgen s HIV Proviral DNA PCR Kit was developed and validated to be used with the following PCR instruments: Qiagen Rotor-Gene Q BioRad T1000 Cycler

Norgen s HIV Proviral DNA PCR Kit was developed and validated to be used with the following PCR instruments: Qiagen Rotor-Gene Q BioRad T1000 Cycler 3430 Schmon Parkway Thorold, ON, Canada L2V 4Y6 Phone: 866-667-4362 (905) 227-8848 Fax: (905) 227-1061 Email: techsupport@norgenbiotek.com HIV Proviral DNA PCR Kit Product# 33840 Product Insert Intended

More information

Prevalence and patterns of Y chromosome microdeletion in infertile men with azoospermia and oligzoospermia in Northeast China

Prevalence and patterns of Y chromosome microdeletion in infertile men with azoospermia and oligzoospermia in Northeast China Iran J Reprod Med Vol. 12. No. 6. pp: 383-388, June 2014 Original article Prevalence and patterns of Y chromosome microdeletion in infertile men with azoospermia and oligzoospermia in Northeast China Fadlalla

More information

MRC-Holland MLPA. Description version 10; 06 April 2018

MRC-Holland MLPA. Description version 10; 06 April 2018 Description version ; 6 April 8 mix P36-B Y-Chromosome Microdeletions Lot B-5. As compared to version A (Lot A-), all probes f DPY9L, one probe f RBMYCP and one probe f KDM5D have been removed, and one

More information

Norgen s HIV proviral DNA PCR Kit was developed and validated to be used with the following PCR instruments: Qiagen Rotor-Gene Q BioRad icycler

Norgen s HIV proviral DNA PCR Kit was developed and validated to be used with the following PCR instruments: Qiagen Rotor-Gene Q BioRad icycler 3430 Schmon Parkway Thorold, ON, Canada L2V 4Y6 Phone: (905) 227-8848 Fax: (905) 227-1061 Email: techsupport@norgenbiotek.com HIV Proviral DNA PCR Kit Product # 33840 Product Insert Background Information

More information

Cytomegalovirus (CMV) End-Point PCR Kit Product# EP36300

Cytomegalovirus (CMV) End-Point PCR Kit Product# EP36300 3430 Schmon Parkway Thorold, ON, Canada L2V 4Y6 Phone: 866-667-4362 (905) 227-8848 Fax: (905) 227-1061 Email: techsupport@norgenbiotek.com Cytomegalovirus (CMV) End-Point PCR Kit Product# EP36300 Product

More information

Y Chromosome Microdeletions and Alterations of Spermatogenesis*

Y Chromosome Microdeletions and Alterations of Spermatogenesis* 0163-769X/01/$03.00/0 Endocrine Reviews 22(2): 226 239 Copyright 2001 by The Endocrine Society Printed in U.S.A. Y Chromosome Microdeletions and Alterations of Spermatogenesis* CARLO FORESTA, ENRICO MORO,

More information

Hepatitis B Virus Genemer

Hepatitis B Virus Genemer Product Manual Hepatitis B Virus Genemer Primer Pair for amplification of HBV Viral Specific Fragment Catalog No.: 60-2007-10 Store at 20 o C For research use only. Not for use in diagnostic procedures

More information

Molecular cytogenetic analysis of a ring-y infertile male patient

Molecular cytogenetic analysis of a ring-y infertile male patient Characterization of a ring-y infertile male patient 59 A case report Molecular cytogenetic analysis of a ring-y infertile male patient F.M. Carvalho 1*, E.V. Wolfgramm 1*, I. Degasperi 2, B.M. Verbeno

More information

THE Y-CHROMOSOME : Genetics of Male Infertility

THE Y-CHROMOSOME : Genetics of Male Infertility THE Y-CHROMOSOME : Genetics of Male Infertility Greeshma Gopalan***, Sadia Tabassum Khan**, Ketki Sharma** & Aparna Sarkar * *** Tutor at Physiology Department, Rama Medical College, Hapur, Ghaziabad.;**M.Sc

More information

PDF hosted at the Radboud Repository of the Radboud University Nijmegen

PDF hosted at the Radboud Repository of the Radboud University Nijmegen PDF hosted at the Radboud Repository of the Radboud University Nijmegen The following full text is a publisher's version. For additional information about this publication click this link. http://hdl.handle.net/2066/24403

More information

The New England Journal of Medicine MICRODELETIONS IN THE Y CHROMOSOME OF INFERTILE MEN. Study Subjects

The New England Journal of Medicine MICRODELETIONS IN THE Y CHROMOSOME OF INFERTILE MEN. Study Subjects MICRODELETIONS IN THE Y CHROMOSOME OF INFERTILE MEN JON L. PRYOR, M.D., MARIJO KENT-FIRST, PH.D., ARIEGE MUALLEM, B.S., ANDREW H. VAN BERGEN, B.S., WOLFRAM E. NOLTEN, M.D., LORRAINE MEISNER, PH.D., AND

More information

Y chromosome microdeletions in Brazilian fertility clinic patients

Y chromosome microdeletions in Brazilian fertility clinic patients Y chromosome microdeletions in Brazilian fertility clinic patients J.T. Arruda 1, B.M. Bordin 1, P.R. Santos 1, W.E.J.C. Mesquita 1, R.C.P.C. Silva 2, M.C.S. Maia 2, M.S. Approbato 2, R.S. Florêncio 2,

More information

Human Immunodeficiency Virus-1 (HIV-1) Genemer. Primer Pair for amplification of HIV-1 Specific DNA Fragment

Human Immunodeficiency Virus-1 (HIV-1) Genemer. Primer Pair for amplification of HIV-1 Specific DNA Fragment Product Manual Human Immunodeficiency Virus-1 (HIV-1) Genemer Primer Pair for amplification of HIV-1 Specific DNA Fragment Catalog No.: 60-2002-10 Store at 20 o C For research use only. Not for use in

More information

The frequency of Yq microdeletion in azoospermic and oligospermic Iranian infertile men

The frequency of Yq microdeletion in azoospermic and oligospermic Iranian infertile men Iran J Reprod Med Vol. 11. No. 6. pp: 453-458, June 2013 Original article The frequency of Yq microdeletion in azoospermic and oligospermic Iranian infertile men Mohammad Ali Zaimy 1, 2 M.Sc., Seyyed Mehdi

More information

Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter s syndrome

Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter s syndrome Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter s syndrome H.-G. Zhang, Z.-B. Zhang, R.-X. Wang, Y. Yu, X.-W. Yu, E. Fadlalla

More information

Genetic evaluation of infertile men

Genetic evaluation of infertile men Human Reproduction vol.14 no.1 pp.33 38, 1999 Genetic evaluation of infertile men S.E.Kleiman 1, L.Yogev, R.Gamzu, R.Hauser, A.Botchan, J.B.Lessing, G.Paz and H.Yavetz Institute for the Study of Fertility,

More information

Screening for microdeletions in human Y chromosome - AZF candidate genes and male infertility

Screening for microdeletions in human Y chromosome - AZF candidate genes and male infertility J.Cell.Mol.Med. Vol 7, No 1, 2003 pp. 43-48 Screening for microdeletions in human Y chromosome - AZF candidate genes and male infertility Florina Raicu a, L. Popa a, Pompilia Apostol a, D. Cimponeriu a,

More information

attomol HLA-B*27-Realtime LT 2 Assay for the detection of the human HLA-B*27-locus using LightCycler (Do not use for tissue typing!

attomol HLA-B*27-Realtime LT 2 Assay for the detection of the human HLA-B*27-locus using LightCycler (Do not use for tissue typing! attomol HLA-B*27-Realtime LT 2 Assay for the detection of the human HLA-B*27-locus using LightCycler (Do not use for tissue typing!) For in vitro diagnostic use only! 50 determinations Order number: 95

More information

HIV-1 Genemer Detection Kit Ready to Use Amplification Kit for HIV-1 Specific DNA Fragment Analysis

HIV-1 Genemer Detection Kit Ready to Use Amplification Kit for HIV-1 Specific DNA Fragment Analysis Product Manual HIV-1 Genemer Detection Kit Ready to Use Amplification Kit for HIV-1 Specific DNA Fragment Analysis For research use only. Not for use in diagnostic procedures for clinical purposes Catalog

More information

Routine screening for classical azoospermia factor deletions of the Y chromosome in azoospermic patients with Klinefelter syndrome

Routine screening for classical azoospermia factor deletions of the Y chromosome in azoospermic patients with Klinefelter syndrome Asian J Androl 2007; 9 (6): 815 820 DOI: 10.1111/j.1745-7262.2007.00315.x www.asiaandro.com. Original Article. Routine screening for classical azoospermia factor deletions of the Y chromosome in azoospermic

More information

Analysis of Yq microdeletions in infertile males by PCR and DNA hybridization techniques

Analysis of Yq microdeletions in infertile males by PCR and DNA hybridization techniques Molecular Human Reproduction vol.4 no.12 pp. 1116 1121, 1998 Analysis of Yq microdeletions in infertile males by PCR and DNA hybridization techniques Paola Grimaldi 1, Claudia Scarponi 1, Pellegrino Rossi

More information

Article Genetic association between AZF region polymorphism and Klinefelter syndrome

Article Genetic association between AZF region polymorphism and Klinefelter syndrome RBMOnline - Vol 19. No 4. 2009 547 551 Reproductive BioMedicine Online; www.rbmonline.com/article/3741 on web 21 August 2009 Article Genetic association between AZF region polymorphism and Klinefelter

More information

Y chromosome microdeletions are not associated with spontaneous recurrent pregnancy loss in a Sinhalese population in Sri Lanka

Y chromosome microdeletions are not associated with spontaneous recurrent pregnancy loss in a Sinhalese population in Sri Lanka Human Reproduction, Vol.25, No.12 pp. 3152 3156, 2010 Advanced Access publication on October 13, 2010 doi:10.1093/humrep/deq271 ORIGINAL ARTICLE Reproductive genetics Y chromosome microdeletions are not

More information

INFERTILITY GENETIC TESTING. Dr. Ahmad Ebrahimi Molecular Medical Genetics,PhD Yass Medical Genetics Lab. Tehran University of Medical Science

INFERTILITY GENETIC TESTING. Dr. Ahmad Ebrahimi Molecular Medical Genetics,PhD Yass Medical Genetics Lab. Tehran University of Medical Science INFERTILITY GENETIC TESTING Dr. Ahmad Ebrahimi Molecular Medical Genetics,PhD Yass Medical Genetics Lab. Tehran University of Medical Science INFERTILITY GENETIC TESTING It is estimated that genetics are

More information

RealLine HCV Qualitative Str-Format

RealLine HCV Qualitative Str-Format Instructions for use REAL TIME PCR DETECTION KIT FOR THE HEPATITIS C VIRUS RNA (HCV) Research Use Only (RUO) (Str-format) VBD0795 96 Tests valid from: October 2018 Rev05_1018_EN Page 1 of 8 Explanation

More information

For in vitro Veterinary Diagnostics only. Kylt Rotavirus A. Real-Time RT-PCR Detection.

For in vitro Veterinary Diagnostics only. Kylt Rotavirus A. Real-Time RT-PCR Detection. For in vitro Veterinary Diagnostics only. Kylt Rotavirus A Real-Time RT-PCR Detection www.kylt.eu DIRECTION FOR USE Kylt Rotavirus A Real-Time RT-PCR Detection A. General Kylt Rotavirus A products are

More information

Loss of the AZFc region due to a human Y-chromosome microdeletion in infertile male patients

Loss of the AZFc region due to a human Y-chromosome microdeletion in infertile male patients Loss of the AZFc region due to a human Y-chromosome microdeletion in infertile male patients L.K. Pandey 2, S. Pandey 2, J. Gupta 1 and A.K. Saxena 1 1 Human Cytogenetic and Molecular Genetic Laboratory,

More information

Uniform deletion junctions of complete azoospermia factor region c deletion in infertile men in Taiwan

Uniform deletion junctions of complete azoospermia factor region c deletion in infertile men in Taiwan DOI: 10.1111/j.1745-7262.2006.00109.x. Original Article. Uniform deletion junctions of complete azoospermia factor region c deletion in infertile men in Taiwan Chao-Chin Hsu 1, Pao-Lin Kuo 2, Louise Chuang

More information

Table S1. Primers and PCR protocols for mutation screening of MN1, NF2, KREMEN1 and ZNRF3.

Table S1. Primers and PCR protocols for mutation screening of MN1, NF2, KREMEN1 and ZNRF3. Table S1. Primers and PCR protocols for mutation screening of MN1, NF2, KREMEN1 and ZNRF3. MN1 (Accession No. NM_002430) MN1-1514F 5 -GGCTGTCATGCCCTATTGAT Exon 1 MN1-1882R 5 -CTGGTGGGGATGATGACTTC Exon

More information

Detection of the Microdeletions on Yq Chromosome in Egyptian Population with Idiopathic Male Infertility

Detection of the Microdeletions on Yq Chromosome in Egyptian Population with Idiopathic Male Infertility Detection of the Microdeletions on Yq Chromosome in Egyptian Population with Idiopathic Male Infertility Hesham Saeed * 1,2 Hesham Neamattallah 1, Taha Zaghloul 1, Khali Elmolla 3 and Amal Moustafa 4 1

More information

Role of Paired Box9 (PAX9) (rs ) and Muscle Segment Homeobox1 (MSX1) (581C>T) Gene Polymorphisms in Tooth Agenesis

Role of Paired Box9 (PAX9) (rs ) and Muscle Segment Homeobox1 (MSX1) (581C>T) Gene Polymorphisms in Tooth Agenesis EC Dental Science Special Issue - 2017 Role of Paired Box9 (PAX9) (rs2073245) and Muscle Segment Homeobox1 (MSX1) (581C>T) Gene Polymorphisms in Tooth Agenesis Research Article Dr. Sonam Sethi 1, Dr. Anmol

More information

Screening for microdeletions of Y chromosome genes in patients undergoing intracytoplasmic sperm injection

Screening for microdeletions of Y chromosome genes in patients undergoing intracytoplasmic sperm injection Human Reproduction vol.14 no.7 pp.1717 1721, 1999 Screening for microdeletions of Y chromosome genes in patients undergoing intracytoplasmic sperm injection C.Krausz 1,3,4, C.Bussani-Mastellone 2, S.Granchi

More information

Y chromosome microdeletion in a father and his four infertile sons

Y chromosome microdeletion in a father and his four infertile sons Human Reproduction vol.14 no.11 pp.2689 2694, 1999 OUTSTANDING CONTRIBUTION Y chromosome microdeletion in a father and his four infertile sons Peter L.Chang, Mark V.Sauer 1 and Stephen Brown of the Y chromosome

More information

Correlation between chromosomal polymorphisms and male infertility in a Northeast Chinese population

Correlation between chromosomal polymorphisms and male infertility in a Northeast Chinese population Correlation between chromosomal polymorphisms and male infertility in a Northeast Chinese population L.L. Li 1, D. Peng 1, R.X. Wang 1, H.B. Zhu 1, W.J. Wang 2 and R.Z. Liu 1 1 Center for Reproductive

More information

Leukemia BCR-ABL Fusion Gene Real Time RT-PCR Kit

Leukemia BCR-ABL Fusion Gene Real Time RT-PCR Kit Revision No.: ZJ0003 Issue Date: Aug 7 th, 2008 Leukemia BCR-ABL Fusion Gene Real Time RT-PCR Kit Cat. No.: TR-0126-02 For use with ABI Prism 7000/7300/7500/7900(96 well); Smart Cycler II; icycler iq 4/iQ

More information

Chapter 3 To investigate the Y chromosome AZFc partial deletion types and its association in spermatogenic impairment and male infertility

Chapter 3 To investigate the Y chromosome AZFc partial deletion types and its association in spermatogenic impairment and male infertility Chapter 3 To investigate the Y chromosome AZFc partial deletion types and its association in spermatogenic impairment and male infertility 3.1 Introduction Classically, infertility is defined as the inability

More information

Pneumocystis Carinii Real Time PCR Kit. For In Vitro Diagnostic Use Only User Manual

Pneumocystis Carinii Real Time PCR Kit. For In Vitro Diagnostic Use Only User Manual Revision No.: ZJ0003 Issue Date: Aug 7 th, 2008 Pneumocystis Carinii Real Time PCR Kit Cat. No.: QD-0082-02 For use with ABI Prism 7000/7300/7500/7900; Smart CyclerII; icycler iq 4/iQ 5; Rotor Gene 2000/3000;

More information

Quadruplex real-time polymerase chain reaction assay for molecular diagnosis of Y-chromosomal microdeletions

Quadruplex real-time polymerase chain reaction assay for molecular diagnosis of Y-chromosomal microdeletions Quadruplex real-time polymerase chain reaction assay for molecular diagnosis of Y-chromosomal microdeletions Qiwei Guo, M.S., a Fenghua Lan, M.D., b Liangpu Xu, B.S., c Yu Jiang, M.S., a Li Xiao, M.S.,

More information

Molecular Biology Research Communications 2016; 5(4):

Molecular Biology Research Communications 2016; 5(4): Molecular Biology Research Communications 2016; 5(4):247-255 Original Article Open Access Partial and complete microdeletions of Y chromosome in infertile males from South of Iran Raheleh Masoudi *, Liusa

More information

Y-chromosome microdeletions and recurrent pregnancy loss

Y-chromosome microdeletions and recurrent pregnancy loss RECURRENT PREGNANCY LOSS Y-chromosome microdeletions and recurrent pregnancy loss Sheri Dewan, M.S., a Elizabeth E. Puscheck, M.D., b Carolyn B. Coulam, M.D., c Alexander J. Wilcox, B.S., d and Rajasingam

More information

Schedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK

Schedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK NW Thames Regional Genetics Laboratory Northwick Park Hospital Watford Road Harrow HA1 3UJ United Kingdom Contact: Caroline Sullivan Tel:

More information

Elucigene Male Factor Infertility Products Instructions for Use

Elucigene Male Factor Infertility Products Instructions for Use Elucigene Male Factor Infertility Products Instructions for Use Product Size Catalogue Code Elucigene Male Factor Infertility 25 tests AZFXYB1 Elucigene MFI-Yplus 10 tests AZFPLBX For In-Vitro Diagnostic

More information

AmoyDx TM BRAF V600E Mutation Detection Kit

AmoyDx TM BRAF V600E Mutation Detection Kit AmoyDx TM BRAF V600E Mutation Detection Kit Detection of V600E mutation in the BRAF oncogene Instructions For Use Instructions Version: B3.1 Date of Revision: April 2012 Store at -20±2 o C 1/5 Background

More information

RealLine HIV qualitative Str-Format

RealLine HIV qualitative Str-Format Instructions for Use REAL TIME PCR DETECTION KIT FOR HUMAN IMMUNODEFICIENCY VIRUS RNA Research Use Only (RUO) RealLine HIV Qualitative (Str-format) VBD0196 96 Tests valid from July 2016 Rev01072016_EN

More information

cyndazla: a cynomolgus monkey homologue of the human autosomal DAZ gene*

cyndazla: a cynomolgus monkey homologue of the human autosomal DAZ gene* Molecular Human Reproduction vol.3 no.6 pp. 479 483, 1997 cyndazla: a cynomolgus monkey homologue of the human autosomal DAZ gene* Cesare Carani 1,Jörg Gromoll 2, Martin H.Brinkworth 2, Manuela Simoni

More information

Cytogenetic and Y chromosome microdeletion screening of a random group of infertile males

Cytogenetic and Y chromosome microdeletion screening of a random group of infertile males FERTILITY AND STERILITY VOL. 79, NO. 2, FEBRUARY 2003 Copyright 2003 American Society for Reproductive Medicine Published by Elsevier Science Inc. Printed on acid-free paper in U.S.A. Cytogenetic and Y

More information

AmpliX HBV Quantitative

AmpliX HBV Quantitative Instructions for use REAL TIME PCR DETECTION AND QUANTITATION KIT OF HEPATITIS B VIRUS DNA Research Use Only (RUO) (Lyo-format) VBD0595 96 rcs valid from May 2013 Explanation of symbols used in labeling

More information

RealLine Mycoplasma genitalium Str-Format

RealLine Mycoplasma genitalium Str-Format Instructions for use ASSAY KIT FOR THE QUALITATIVE DETECTION OF MYCOPLASMA GENITALIUM DNA BY REAL-TIME PCR METHOD In vitro Diagnostics () VBD4396 96 Tests valid from December 2018 Rev06_1218_EN Page 1

More information

Original Article Study of chromosome detection and influencing factors in infertile patients with varicocele

Original Article Study of chromosome detection and influencing factors in infertile patients with varicocele Int J Clin Exp Med 2018;11(7):7088-7095 www.ijcem.com /ISSN:1940-5901/IJCEM0074955 Original Article Study of chromosome detection and influencing factors in infertile patients with varicocele Bing Wang

More information

Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions

Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions international journal of andrology, 22:292±299 (1999) Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions M. SIMONI, 1 E. BAKKER, 2 M. C. M. EURLINGS, 2 G. MATTHIJS, 3 E. MORO,

More information

EXPRESSION PROFILING OF CREM GENE IN TESTIS WITH NORMAL AND IMPAIRED SPERMATOGENESIS IN EGYPTIAN MALES

EXPRESSION PROFILING OF CREM GENE IN TESTIS WITH NORMAL AND IMPAIRED SPERMATOGENESIS IN EGYPTIAN MALES EXPRESSION PROFILING OF CREM GENE IN TESTIS WITH NORMAL AND IMPAIRED SPERMATOGENESIS IN EGYPTIAN MALES MANAL O. EL HAMSHARY 1, ALIAA M. ISSA 2, M. K. KHALIFA 3, K. Z. SHAEER 4 1. 2. 3. Genetic Engineering

More information

Y Chromosome Microdeletions in Pakistani Infertile Men

Y Chromosome Microdeletions in Pakistani Infertile Men Open Access Fu l l L en gt h A r t i cl e ORIGINAL ART ICLE Y Chromosome Microdeletions in Pakistani Infertile Men Atif Mahmood 1, Syeda Nuzhat Nawab 2, Saima Ejaz 3, Masood Anwar Qureshi 4, Fauzia Imtiaz

More information

Asian J Androl 2006; 8 (2): DOI: /j x

Asian J Androl 2006; 8 (2): DOI: /j x Asian J Androl 2006; 8 (2): 213 218 DOI: 10.1111/j.1745-7262.2006.00107.x. Original Article. Associations of homologous RNA-binding motif gene on the X chromosome (RBMX) and its like sequence on chromosome

More information

SALSA MLPA probemix P185-C2 Intersex Lot C2-1015: As compared to the previous version C1 (lot C1-0611), the lengths of four probes have been adjusted.

SALSA MLPA probemix P185-C2 Intersex Lot C2-1015: As compared to the previous version C1 (lot C1-0611), the lengths of four probes have been adjusted. mix P185-C2 Intersex Lot C2-1015: As compared to the previous version C1 (lot C1-0611), the lengths of four s have been adjusted. The sex-determining region on chromosome Y (SRY) is the most important

More information

Deletion of azoospermia factor a (AZFa) regionof human Y chromosome caused by recombination between HERV15 proviruses

Deletion of azoospermia factor a (AZFa) regionof human Y chromosome caused by recombination between HERV15 proviruses 2000 Oxford University Press Human Molecular Genetics, 2000, Vol. 9, No. 15 2291 2296 Deletion of azoospermia factor a (AZFa) regionof human Y chromosome caused by recombination between HERV15 proviruses

More information

Urine - Based XMRV RT-PCR Detection Kit Product # 34700

Urine - Based XMRV RT-PCR Detection Kit Product # 34700 3430 Schmon Parkway Thorold, ON, Canada L2V 4Y6 Phone: 866-667-4362 (905) 227-8848 Fax: (905) 227-1061 Email: techsupport@norgenbiotek.com Urine - Based XMRV RT-PCR Detection Kit Product # 34700 Product

More information

Human chromosome deletions in Yq11, AZF candidate genes and male infertility: history and update

Human chromosome deletions in Yq11, AZF candidate genes and male infertility: history and update Molecular Human Reproduction vol.4 no.8 pp. 739 744, 1998 Human chromosome deletions in Yq11, AZF candidate genes and male infertility: history and update Peter H.Vogt Reproduction Genetics in Institute

More information

Inhibin B plasma concentrations in infertile patients with DAZ gene deletions treated with FSH

Inhibin B plasma concentrations in infertile patients with DAZ gene deletions treated with FSH European Journal of Endocrinology (2002) 146 801 806 ISSN 0804-4643 CLINICAL STUDY Inhibin B plasma concentrations in infertile patients with DAZ gene deletions treated with FSH Carlo Foresta, Andrea Bettella,

More information

Product Manual. Omni-Array Sense Strand mrna Amplification Kit, 2 ng to 100 ng Version Catalog No.: Reactions

Product Manual. Omni-Array Sense Strand mrna Amplification Kit, 2 ng to 100 ng Version Catalog No.: Reactions Genetic Tools and Reagents Universal mrna amplification, sense strand amplification, antisense amplification, cdna synthesis, micro arrays, gene expression, human, mouse, rat, guinea pig, cloning Omni-Array

More information

MATERIALS AND METHODS

MATERIALS AND METHODS www.kjurology.org http://dx.doi.org/1.4111/kju.213.54.2.111 Male Infertility Detection of Y Chromosome Microdeletion is Valuable in the Treatment of Patients With Nonobstructive Azoospermia and Oligoasthenoteratozoospermia:

More information

Homologous recombination between HERVs causes duplications in the AZFa region of men accidentally exposed to cesium-137 in Goiânia

Homologous recombination between HERVs causes duplications in the AZFa region of men accidentally exposed to cesium-137 in Goiânia Homologous recombination between HERVs causes duplications in the AZFa region of men accidentally exposed to cesium-137 in Goiânia J.T. Arruda 1, D.M. Silva 1,2, C.C. Silva 1,2, K.K.V.O. Moura 1 and A.D.

More information

Reduced copy number of DAZ genes in subfertile and infertile men

Reduced copy number of DAZ genes in subfertile and infertile men MALE FACTOR FERTILITY AND STERILITY VOL. 77, NO. 1, JANUARY 2002 Copyright 2002 American Society for Reproductive Medicine Published by Elsevier Science Inc. Printed on acid-free paper in U.S.A. Reduced

More information

MRC-Holland MLPA. Description version 08; 30 March 2015

MRC-Holland MLPA. Description version 08; 30 March 2015 SALSA MLPA probemix P351-C1 / P352-D1 PKD1-PKD2 P351-C1 lot C1-0914: as compared to the previous version B2 lot B2-0511 one target probe has been removed and three reference probes have been replaced.

More information

The Association between Y Chromosome Microdeletion and Recurrent Pregnancy Loss

The Association between Y Chromosome Microdeletion and Recurrent Pregnancy Loss Iranian Red Crescent Medical Journal ORIGINAL ARTICLE The Association between Y Chromosome Microdeletion and Recurrent Pregnancy Loss S Ghorbian 1, K Saliminejad 2, MR Sadeghi 3, GhR Javadi 1, K Kamali

More information

Asian J Androl 2006; 8 (1): DOI: /j x

Asian J Androl 2006; 8 (1): DOI: /j x Asian J Androl 2006; 8 (1): 39 44 DOI: 10.1111/j.1745-7262.2006.00100.x. Original Article. Y-chromosomal microdeletions and partial deletions of the Azoospermia Factor c (AZFc) region in normozoospermic,

More information

by nexttec TM 1 -Step

by nexttec TM 1 -Step Protocol DNA Isolation from Bacteria by nexttec TM 1 -Step - nexttec cleancolumns - Cat. No. 20N.010 Cat. No. 20N.050 Cat. No. 20N.250 Version 1.0 For research only Principle nexttec 1 -Step is the easiest

More information

RECENTLY, CONSIDERABLE attention has focused on

RECENTLY, CONSIDERABLE attention has focused on 0021-972X/01/$03.00/0 Vol. 86, No. 6 The Journal of Clinical Endocrinology & Metabolism Printed in U.S.A. Copyright 2001 by The Endocrine Society Double-Blind Y Chromosome Microdeletion Analysis in Men

More information

Single Cell Quantitative Polymer Chain Reaction (sc-qpcr)

Single Cell Quantitative Polymer Chain Reaction (sc-qpcr) Single Cell Quantitative Polymer Chain Reaction (sc-qpcr) Analyzing gene expression profiles from a bulk population of cells provides an average profile which may obscure important biological differences

More information

Technical Bulletin No. 98b

Technical Bulletin No. 98b CPAL Central Pennsylvania Alliance Laboratory Technical Bulletin No. 98b Chlamydia trachomatis and Neisseria gonorrhoeae Dual Target PCR Assay UPDATED Specimen Requirements October 13, 2016 Contact: Susan

More information

Validation Report: VERSA Mini PCR Workstation Reverse Transcription of Avian Flu RNA and Amplification of cdna & Detection of H5N1

Validation Report: VERSA Mini PCR Workstation Reverse Transcription of Avian Flu RNA and Amplification of cdna & Detection of H5N1 I. Objectives Validation Report: VERSA Mini PCR Workstation Reverse Transcription of Avian Flu RNA and Amplification of cdna & Detection of H5N1 1. To ensure stability of RNA (highly thermolabile and degradatively

More information

MRC-Holland MLPA. Description version 08; 07 May 2015

MRC-Holland MLPA. Description version 08; 07 May 2015 mix P185-C1 Intersex Lot C1-0611: As compared to the previous version B2 (lot B2-0311), s for CYP21A2 have been removed and s for the CXorf21 gene as well as additional s for NR0B1, NR5A1 and the Y chromosome

More information

Results of ICSI in severe oligozoospermic and azoospermic patients with AZF microdeletions

Results of ICSI in severe oligozoospermic and azoospermic patients with AZF microdeletions Iranian Journal of Reproductive Medicine Vol.7. No.2. pp: 79-84, Spring 2009 Results of ICSI in severe oligozoospermic and azoospermic patients with AZF microdeletions Sevtap Kilic 1 M.D., Ph.D., Beril

More information

Somatic cytogenetic and azoospermia factor gene microdeletion studies in infertile men

Somatic cytogenetic and azoospermia factor gene microdeletion studies in infertile men Brazilian Journal of Medical and Biological Research (2006) 39: 555-561 Cytogenetic and Y microdeletion studies of infertile men ISSN 0100-879X 555 Somatic cytogenetic and azoospermia factor gene microdeletion

More information

Indication criteria for disease: Non-obstructive azoospermia, severe oligozoospermia [AZFa, AZFb, AZFc]

Indication criteria for disease: Non-obstructive azoospermia, severe oligozoospermia [AZFa, AZFb, AZFc] deutsche gesellschaft für humangenetik e.v. Indication Criteria for Genetic Testing Evaluation of validity and clinical utility german society of human genetics www.gfhev.de Indication criteria for disease:

More information

Male infertility: analysis of the markers and genes on the human Y chromosome

Male infertility: analysis of the markers and genes on the human Y chromosome Human Reproduction vol.13 no.11 pp.3032 3038, 1998 Male infertility: analysis of the markers and genes on the human Y chromosome Dana R.Kostiner 1, Paul J.Turek 2 and Renee A.Reijo 1,2,3,4 1 Department

More information

MRC-Holland MLPA. Description version 30; 06 June 2017

MRC-Holland MLPA. Description version 30; 06 June 2017 SALSA MLPA probemix P081-C1/P082-C1 NF1 P081 Lot C1-0517, C1-0114. As compared to the previous B2 version (lot B2-0813, B2-0912), 11 target probes are replaced or added, and 10 new reference probes are

More information

Cytogenetic and Y Chromosome Microdeletions Screening in Tunisian Infertile Men

Cytogenetic and Y Chromosome Microdeletions Screening in Tunisian Infertile Men Donnish Journal of Genetics and Molecular Biology Vol 1(1) pp. 001-005 October, 2015. http:///djgmb Copyright 2015 Donnish Journals Original Research Article Cytogenetic and Y Chromosome Microdeletions

More information

CMV FEP ALA For nucleic acid amplification of CMV DNA and Fluorescence detection with End Point analysis (FEP) on Aladin (Sacace)

CMV FEP ALA For nucleic acid amplification of CMV DNA and Fluorescence detection with End Point analysis (FEP) on Aladin (Sacace) REF TV7-00FRT VER 3.0.06 CMV FEP ALA For nucleic acid amplification of CMV DNA and Fluorescence detection with End Point analysis (FEP) on Aladin (Sacace) Key to symbols used REF List Number Store at 2-8

More information

Yq MICRODELETIONS IN IDIOPATHIC MALE INFERTILITY

Yq MICRODELETIONS IN IDIOPATHIC MALE INFERTILITY Original Research Article Yq MICRODELETIONS IN IDIOPATHIC MALE INFERTILITY Dinesh Kumar. V * 1, Swetasmita Mishra 2, Rima Dada 2. ABSTRACT International Journal of Anatomy and Research, Int J Anat Res

More information

Molecular diagnosis of infectious disease - Method validation and environmental setting 傳染病的分子診斷 - 方法確認與環境背景. WC Yam 任永昌

Molecular diagnosis of infectious disease - Method validation and environmental setting 傳染病的分子診斷 - 方法確認與環境背景. WC Yam 任永昌 Molecular diagnosis of infectious disease - Method validation and environmental setting 傳染病的分子診斷 - 方法確認與環境背景 WC Yam 任永昌 Dept of Microbiology Queen Mary Hospital The University of Hong Kong Clinical and

More information

REVIEW The Y chromosome and male fertility and infertility 1

REVIEW The Y chromosome and male fertility and infertility 1 international journal of andrology, 26:70 75 (2003) REVIEW The Y chromosome and male fertility and infertility 1 CSILLA KRAUSZ,* G. FORTI* and KEN MCELREAVEY *Andrology Unit, Department of Clinical Physiopathology,

More information

Annals of RSCB Vol. XV, Issue 2

Annals of RSCB Vol. XV, Issue 2 COMPLEX CYTOGENETIC AND MOLECULAR EVALUATION IN MEN WITH OLIGO/AZOOSPERMIA IN THE WESTERN PART OF ROMANIA Cristina Gug 1, 2, Delia Huţanu 3, L. Tămaş 4, Anda Alexa 4, A. Anghel 4 1 GENETICS DEPARTMENT,

More information

MRC-Holland MLPA. Description version 29; 31 July 2015

MRC-Holland MLPA. Description version 29; 31 July 2015 SALSA MLPA probemix P081-C1/P082-C1 NF1 P081 Lot C1-0114. As compared to the previous B2 version (lot 0813 and 0912), 11 target probes are replaced or added, and 10 new reference probes are included. P082

More information

Chlamydia pneumoniae PCR reagents Detection with real time PCR reagents

Chlamydia pneumoniae PCR reagents Detection with real time PCR reagents Chlamydia pneumoniae PCR reagents Detection with real time PCR reagents Overview:... 1 Products... 2 C. pneumoniae FAM-BHQ1 Primer-probe PP3400 0.055ml... 2 AttoMaster 2X Mix for qpcr AM10 1.25 ml... 2

More information

Sperm gamete screening

Sperm gamete screening Sperm gamete screening Juan G. Alvarez, M.D, Ph.D Instituto Marquès, Barcelona Harvard Medical School, Boston Sperm screening Standard semen analysis Sperm capacitation Oocyte activating factor (PLC zeta

More information

XTRAKT FFPE Kit / Manual

XTRAKT FFPE Kit / Manual XTRAKT FFPE Kit / Manual For manual extraction of RNA, mirna and/or DNA from Formalin Fixed Paraffin Embedded (FFPE) tissue samples Catalog No. # XTK2.0-96 For research use only. Not intended for diagnostic

More information

MODERN TRENDS. Edward E. Wallach, M.D. Associate Editor. Mark D. Johnson, M.D.

MODERN TRENDS. Edward E. Wallach, M.D. Associate Editor. Mark D. Johnson, M.D. FERTILITY AND STERILITY VOL. 70, NO. 3, SEPTEMBER 1998 Copyright 1998 American Society for Reproductive Medicine Published by Elsevier Science Inc. Printed on acid-free paper in U.S.A. MODERN TRENDS Edward

More information