Genetic Counseling. Brook Croke, M.S., M.P.H. Genetic Counselor, CooperGenomics UIUC MCB Workshop Series November 13, 2017

Size: px
Start display at page:

Download "Genetic Counseling. Brook Croke, M.S., M.P.H. Genetic Counselor, CooperGenomics UIUC MCB Workshop Series November 13, 2017"

Transcription

1 Genetic Counseling Brook Croke, M.S., M.P.H. Genetic Counselor, CooperGenomics UIUC MCB Workshop Series November 13, /13/2017 1

2

3 OVERVIEW CELL ANATOMY GENETICS OF HUMAN DISEASE EVALUATING GENETIC RISK THE PATH TO GENETIC COUNSELING 11/13/2017 3

4 CHROMOSOMES ARE INSIDE THE NUCLEUS OF OUR CELLS 11/13/2017 4

5 CHROMOSOME STRUCTURE p Arm p Arm Centromere Centromere Two Identical Sister Chromatids q Arm q Arm ONE CHROMOSOME BEFORE REPLICATION ONE CHROMOSOME AFTER REPLICATION 11/13/2017 5

6 DNA STORAGE Genes within our DNA provide the instructions for the body to create proteins. Proteins help our body grow, function, and repair itself. 11/13/2017 6

7 GENETICS OF HUMAN DISEASE 11/13/2017 7

8 MUTATIONS ARE CHANGES IN GENES Mutations can be passed down from parents or they can happen sporadically. 11/13/2017 8

9 SOME MUTATIONS MAKE US UNIQUE Humans are >99% alike. The remaining ~1% is what makes us each unique. Mutations in some genes lead to differences in traits like hair and eye color. However, some mutations can cause genetic disease. 11/13/2017 9

10 TYPES OF GENETIC DISEASE + Single-gene Disorder X X Y Chromosome Abnormality Multifactorial Condition 11/13/

11 AUTOSOMAL DOMINANT INHERITANCE 11/13/

12 AUTOSOMAL RECESSIVE INHERITANCE 11/13/

13 X-LINKED INHERITANCE 11/13/

14 TYPES OF GENETIC DISEASE + Single-gene Disorder X X Y Chromosome Abnormality Multifactorial Condition 11/13/

15 TYPES OF GENETIC DISEASE Variations of chromosomal material X X Y Chromosome Abnormality 11/13/

16 NONDISJUNCTION Normal Meiosis II Normal Meiosis I Oocytes containing the correct number of chromosomes Oocytes containing the incorrect number of chromosomes Nondisjunction in Meiosis II 11/13/

17 MONOSOMY 11/13/

18 TRISOMY 11/13/

19 TRIPLOIDY 11/13/

20 COPY NUMBER VARIATION (CNV) 0 copies Abnormal 1 copy Normal 2 copies Abnormal 11/13/

21 RECIPROCAL TRANSLOCATION 11/13/

22 ROBERTSONIAN TRANSLOCATION Breakage and Rejoining NORMAL NONHOMOLOGOUS, ACROCENTRIC CHROMOSOMES ROBERTSONIAN TRANSLOCATION 11/13/

23 PARACENTRIC INVERSION (Does not include centromere) INVERSION PERICENTRIC INVERSION (Includes centromere) 11/13/

24 TYPES OF GENETIC DISEASE + Single-gene Disorder X X Y Chromosome Abnormality Multifactorial Condition 11/13/

25 MULTIFACTORIAL CONDITIONS + 11/13/

26 GENOTYPE TO PHENOTYPE Penetrance How often a genotype correlates to a phenotype Variable Expressivity The same condition has differing symptoms & severity in different people X-inactivation Random inactivation of one X chromosome in each cell Mosaicism Genetic makeup varies among cells 11/13/

27 MOSAICISM NORMAL CELLS CELLS WITH GENETIC CHANGE MOSAIC TISSUE CELL DIVISION 11/13/

28 EVALUATING GENETIC RISK 11/13/

29 FAMILY HISTORY 11/13/

30 EMPIRIC RISKS: SCHIZOPHRENIA General Population Risk of Schizophrenia: ~1% Your risk is increased if you have a family member affected with schizophrenia. Affected Relative Recurrence Risk (%) Sibling 7-10 Both Parents 45 One Parent 7-16 Identical Twin Fraternal Twin First Cousin 1-2 Data from: Harper PS. Practical Genetic Counseling. 7th ed. Boca Raton: CRC Press; and March of Dimes. Empiric recurrence risks for common multifactorial conditions. Genetics & Your Practice. 11/13/

31 ENVIRONMENTAL RISKS Advanced Maternal & Paternal Age (AMA & APA) Teratogens 11/13/

32 THE PATH TO GENETIC COUNSELING 11/13/

33 Why Genetic Counseling? 13 million Americans have a genetic disorder 10% of chronic diseases, such as heart conditions, cancer, diabetes, and arthritis, have a significant genetic component 31% of the time, physicians misinterpret results of genetic testing (NEJM (12): ) 11/13/

34 Is this the right career for you? Genetic counselors work in a variety of settings Room for movement within the field There is flexibility in work schedule (work from home options becoming more common) Patient interaction whether in clinic or working in a laboratory setting 11/13/

35 My Experiences Private laboratory (CooperGenomics, NxGen MDx) University clinics (SIUSOM, UICOMP) Illinois Department of Public Health Newborn Screening Program Blog writer ataxic CP, radiation 11/13/

36 Graduate Programs Almost 40 genetic counseling graduate programs in the US and Canada Several new programs under review, online program starting next Fall. Number of students matriculating in 2016 (including Canadian schools): 317 No additional clinical training, residency etc., go directly into the job market following graduation from ~2 yr. program 11/13/

37 Applying 3 letters of recommendation GRE scores Shadowing GCs Volunteer experience (crisis counseling, hospice, special olympics, etc.) 11/13/

38 Preparing for the interview Become familiar with hot topics in genetics Familiarize yourself with health care laws surrounding genetics (GINA, state laws surrounding NBS) Take a look at 23andme website (good intro to direct to consumer testing) National Society of Genetic Counselors (NSGC) Genetic Task Force of Illinois (GTFI) 11/13/

39 SUMMARY Our understanding of molecular genetics has rapidly increased and molecular genetics is becoming an increasingly relevant and integral part of reproductive medicine Genetic counseling may be the right career for you! 11/13/

40 Thanks for attending! Brook Croke, M.S., M.P.H. Genetic Counselor, CooperGenomics UIUC MCB Workshop Series November 13, /13/

41 Pioneers and Global Leaders Advancing Reproductive Genetics 2017 CooperSurgical, Inc. All Rights Reserved.

Genetic Counseling. Brook Croke, MS, MPH Genetic Counselor (cell)

Genetic Counseling. Brook Croke, MS, MPH Genetic Counselor (cell) Genetic Counseling Brook Croke, MS, MPH Genetic Counselor brook.croke@illinois.gov 618-581-9098 (cell) Overview Genetics a Growing Field Genetic Counseling Applying to Programs Northwestern University

More information

Chromosome Abnormalities

Chromosome Abnormalities Chromosome Abnormalities Chromosomal abnormalities vs. molecular mutations Simply a matter of size Chromosomal abnormalities are big errors Two types of abnormalities 1. Constitutional problem present

More information

Lecture 17: Human Genetics. I. Types of Genetic Disorders. A. Single gene disorders

Lecture 17: Human Genetics. I. Types of Genetic Disorders. A. Single gene disorders Lecture 17: Human Genetics I. Types of Genetic Disorders A. Single gene disorders B. Multifactorial traits 1. Mutant alleles at several loci acting in concert C. Chromosomal abnormalities 1. Physical changes

More information

Chromosome Mutations

Chromosome Mutations Chromosome Mutations Variation in Chromosome Number Euploidy: having full sets of chromosomes Haploid Diploid Triploid Aneuploidy: having anything other than full sets of chromosomes Monosomy Trisomy Variation

More information

BIOLOGY - CLUTCH CH.15 - CHROMOSOMAL THEORY OF INHERITANCE

BIOLOGY - CLUTCH CH.15 - CHROMOSOMAL THEORY OF INHERITANCE !! www.clutchprep.com Chromosomal theory of inheritance: chromosomes are the carriers of genetic material. Independent Assortment alleles for different characters sort independently of each other during

More information

CYTOGENETICS Dr. Mary Ann Perle

CYTOGENETICS Dr. Mary Ann Perle CYTOGENETICS Dr. Mary Ann Perle I) Mitosis and metaphase chromosomes A) Chromosomes are most fully condensed and clearly distinguishable during mitosis. B) Mitosis (M phase) takes 1 to 2 hrs and is divided

More information

The Chromosomal Basis of Inheritance

The Chromosomal Basis of Inheritance The Chromosomal Basis of Inheritance Factors and Genes Mendel s model of inheritance was based on the idea of factors that were independently assorted and segregated into gametes We now know that these

More information

The Living Environment Unit 3 Genetics Unit 11 Complex Inheritance and Human Heredity-class key. Name: Class key. Period:

The Living Environment Unit 3 Genetics Unit 11 Complex Inheritance and Human Heredity-class key. Name: Class key. Period: Name: Class key Period: Chapter 11 assignments Pages/Sections Date Assigned Date Due Topic: Recessive Genetic Disorders Objective: Describe some recessive human genetic disorders. _recessive_ alleles are

More information

Lab Activity 36. Principles of Heredity. Portland Community College BI 233

Lab Activity 36. Principles of Heredity. Portland Community College BI 233 Lab Activity 36 Principles of Heredity Portland Community College BI 233 Terminology of Chromosomes Homologous chromosomes: A pair, of which you get one from mom, and one from dad. Example: the pair of

More information

The Chromosomal Basis of Inheritance

The Chromosomal Basis of Inheritance LECTURE PRESENTATIONS For CAMPBELL BIOLOGY, NINTH EDITION Jane B. Reece, Lisa A. Urry, Michael L. Cain, Steven A. Wasserman, Peter V. Minorsky, Robert B. Jackson Chapter 15 The Chromosomal Basis of Inheritance

More information

Meiosis, Karyotypes, & Nondisjunction. Ch 11 & 14

Meiosis, Karyotypes, & Nondisjunction. Ch 11 & 14 Meiosis, Karyotypes, & Nondisjunction Ch 11 & 14 WORDS (AND CONCEPTS) TO KNOW Human somatic cells have chromosomes (replicated) homologous chromosomes = two chromosomes w/ same genes (tetrad) sister chromatids

More information

Genetics Review. Alleles. The Punnett Square. Genotype and Phenotype. Codominance. Incomplete Dominance

Genetics Review. Alleles. The Punnett Square. Genotype and Phenotype. Codominance. Incomplete Dominance Genetics Review Alleles These two different versions of gene A create a condition known as heterozygous. Only the dominant allele (A) will be expressed. When both chromosomes have identical copies of the

More information

Variations in Chromosome Structure & Function. Ch. 8

Variations in Chromosome Structure & Function. Ch. 8 Variations in Chromosome Structure & Function Ch. 8 1 INTRODUCTION! Genetic variation refers to differences between members of the same species or those of different species Allelic variations are due

More information

Gene Expression and Mutation

Gene Expression and Mutation Gene Expression and Mutation GENE EXPRESSION: There are hormonal and environmental factors that may cause the expression of some genetic information. Some examples are: 1. The two- colour pattern of some

More information

Genetics in Primary Care Curriculum Statement 6. Dr Dave Harniess PCME Stockport

Genetics in Primary Care Curriculum Statement 6. Dr Dave Harniess PCME Stockport Genetics in Primary Care Curriculum Statement 6 Dr Dave Harniess PCME Stockport Learning Objectives Understanding of genetic component of disease Screening for genetic conditions and risk assessment in

More information

Human Heredity: The genetic transmission of characteristics from parent to offspring.

Human Heredity: The genetic transmission of characteristics from parent to offspring. Human Heredity: The genetic transmission of characteristics from parent to offspring. Karyotype : picture of the actual chromosomes arranged in pairs, paired and arranged from largest to smallest. Human

More information

The Chromosomal Basis Of Inheritance

The Chromosomal Basis Of Inheritance The Chromosomal Basis Of Inheritance Chapter 15 Objectives Explain the chromosomal theory of inheritance and its discovery. Explain why sex-linked diseases are more common in human males than females.

More information

The Chromosomal Basis of Inheritance

The Chromosomal Basis of Inheritance Chapter 15 The Chromosomal Basis of Inheritance PowerPoint Lecture Presentations for Biology Eighth Edition Neil Campbell and Jane Reece Lectures by Chris Romero, updated by Erin Barley with contributions

More information

The Chromosomal Basis of Inheritance

The Chromosomal Basis of Inheritance Chapter 15 The Chromosomal Basis of Inheritance PowerPoint Lecture Presentations for Biology Eighth Edition Neil Campbell and Jane Reece Lectures by Chris Romero, updated by Erin Barley with contributions

More information

Pedigree Analysis. Genetic disorders. Dominant inheritance. Recessive inheritance. Autosomal vs. sex-linked traits. X-linked recessive inheritance

Pedigree Analysis. Genetic disorders. Dominant inheritance. Recessive inheritance. Autosomal vs. sex-linked traits. X-linked recessive inheritance Genetic disorders 4.2 Errors During Meiosis 5.3 Following Patterns of Human nheritance Pedigree Analysis 2005 Lee Bardwell Autosomal vs. sex-linked traits Autosomal traits are caused by genes on autosomes

More information

MULTIPLE CHOICE QUESTIONS

MULTIPLE CHOICE QUESTIONS SHORT ANSWER QUESTIONS-Please type your awesome answers on a separate sheet of paper. 1. What is an X-linked inheritance pattern? Use a specific example to explain the role of the father and mother in

More information

CURRENT GENETIC TESTING TOOLS IN NEONATAL MEDICINE. Dr. Bahar Naghavi

CURRENT GENETIC TESTING TOOLS IN NEONATAL MEDICINE. Dr. Bahar Naghavi 2 CURRENT GENETIC TESTING TOOLS IN NEONATAL MEDICINE Dr. Bahar Naghavi Assistant professor of Basic Science Department, Shahid Beheshti University of Medical Sciences, Tehran,Iran 3 Introduction Over 4000

More information

A. Incorrect! Cells contain the units of genetic they are not the unit of heredity.

A. Incorrect! Cells contain the units of genetic they are not the unit of heredity. MCAT Biology Problem Drill PS07: Mendelian Genetics Question No. 1 of 10 Question 1. The smallest unit of heredity is. Question #01 (A) Cell (B) Gene (C) Chromosome (D) Allele Cells contain the units of

More information

Chromosomes and Gene Expression. Exceptions to the Rule other than sex linked traits

Chromosomes and Gene Expression. Exceptions to the Rule other than sex linked traits Chromosomes and Gene Expression Exceptions to the Rule other than sex linked traits Chromosome Inactivation If girls have two X chromosomes, do they produce more proteins than boys with only one X chromosome???

More information

Chromosomal Mutations

Chromosomal Mutations Notes 2/17 Chromosomal Mutations A chromosome mutation is an unpredictable change that occurs in a chromosome. These changes are most often brought on by problems that occur during meiosis or by mutagens

More information

The form of cell division by which gametes, with half the number of chromosomes, are produced. Chromosomes

The form of cell division by which gametes, with half the number of chromosomes, are produced. Chromosomes & Karyotypes The form of cell division by which gametes, with half the number of chromosomes, are produced. Homologous Chromosomes Pair of chromosomes (maternal and paternal) that are similar in shape,

More information

The questions below refer to the following terms. Each term may be used once, more than once, or not at all.

The questions below refer to the following terms. Each term may be used once, more than once, or not at all. The questions below refer to the following terms. Each term may be used once, more than once, or not at all. a) telophase b) anaphase c) prometaphase d) metaphase e) prophase 1) DNA begins to coil and

More information

Biology Unit III Exam» Form C

Biology Unit III Exam» Form C Directions: For each of the following questions, decide which of the choices is best and fill in the corresponding space on the answer document. 1. Which of these sets of chromosomes is found in a single

More information

MUCOM Medical Genetics. Prepared by: Dr. Mohammed Hussein Assi M.B.Ch.B M.Sc DCH (UK) MRCPCH

MUCOM Medical Genetics. Prepared by: Dr. Mohammed Hussein Assi M.B.Ch.B M.Sc DCH (UK) MRCPCH MUCOM 2017-2018 Medical Genetics Prepared by: Dr. Mohammed Hussein Assi M.B.Ch.B M.Sc DCH (UK) MRCPCH Single-Gene Disorders Basic Definitions Chromosomes There are two types of chromosomes: autosomes (1-22)

More information

Genetic basis of inheritance and variation. Dr. Amjad Mahasneh. Jordan University of Science and Technology

Genetic basis of inheritance and variation. Dr. Amjad Mahasneh. Jordan University of Science and Technology Genetic basis of inheritance and variation Dr. Amjad Mahasneh Jordan University of Science and Technology Segment 1 Hello and welcome everyone. My name is Amjad Mahasneh. I teach molecular biology at Jordan

More information

Genetics, Mendel and Units of Heredity

Genetics, Mendel and Units of Heredity Genetics, Mendel and Units of Heredity ¾ Austrian monk and naturalist. ¾ Conducted research in Brno, Czech Republic from 1856-1863 ¾ Curious about how traits were passed from parents to offspring. Gregor

More information

Heredity and Genetics (8%)

Heredity and Genetics (8%) I. Basic Vocabulary a. G Phase Heredity and Genetics (8%) M G2 i. Chromosomes: Threadlike linear strands of DNA and associated proteins in the nucleus of eukaryotic cells that carry the genes and functions

More information

The Chromosomal Basis of Inheritance

The Chromosomal Basis of Inheritance Chapter 15 The Chromosomal Basis of Inheritance PowerPoint Lectures for Biology, Seventh Edition Neil Campbell and Jane Reece Lectures by Chris Romero Overview: Locating Genes on Chromosomes A century

More information

NOTES- CHAPTER 6 CHROMOSOMES AND CELL REPRODUCTION

NOTES- CHAPTER 6 CHROMOSOMES AND CELL REPRODUCTION NOTES- CHAPTER 6 CHROMOSOMES AND CELL REPRODUCTION Section I Chromosomes Formation of New Cells by Cell Division New cells are formed when old cells divide. 1. Cell division is the same as cell reproduction.

More information

Single Gene (Monogenic) Disorders. Mendelian Inheritance: Definitions. Mendelian Inheritance: Definitions

Single Gene (Monogenic) Disorders. Mendelian Inheritance: Definitions. Mendelian Inheritance: Definitions Single Gene (Monogenic) Disorders Mendelian Inheritance: Definitions A genetic locus is a specific position or location on a chromosome. Frequently, locus is used to refer to a specific gene. Alleles are

More information

A gene is a sequence of DNA that resides at a particular site on a chromosome the locus (plural loci). Genetic linkage of genes on a single

A gene is a sequence of DNA that resides at a particular site on a chromosome the locus (plural loci). Genetic linkage of genes on a single 8.3 A gene is a sequence of DNA that resides at a particular site on a chromosome the locus (plural loci). Genetic linkage of genes on a single chromosome can alter their pattern of inheritance from those

More information

Name Class Date. Complete each of the following sentences by choosing the correct term from the word bank. sex cells genotype sex chromosomes

Name Class Date. Complete each of the following sentences by choosing the correct term from the word bank. sex cells genotype sex chromosomes Skills Worksheet Chapter Review USING KEY TERMS Complete each of the following sentences by choosing the correct term from the word bank. sex cells genotype sex chromosomes alleles phenotype meiosis 1.

More information

Human Genetic Disorders

Human Genetic Disorders Human Genetic Disorders HOMOLOGOUS CHROMOSOMES Human somatic cells have 23 pairs of homologous chromosomes 23 are inherited from the mother and 23 from the father HOMOLOGOUS CHROMOSOMES Autosomes o Are

More information

Mutations Quick Questions and Notes (#1) QQ#1: What do you know about mutations?

Mutations Quick Questions and Notes (#1) QQ#1: What do you know about mutations? Mutations Quick Questions and Notes (#1) QQ#1: What do you know about mutations? mutation basics Definition: a change in the genetic material of a cell Note: not all mutations are bad Can occur in 2 types

More information

The Chromosomal Basis of Inheritance

The Chromosomal Basis of Inheritance LECTURE PRESENTATIONS For CAMPBELL BIOLOGY, NINTH EDITION Jane B. Reece, Lisa A. Urry, Michael L. Cain, Steven A. Wasserman, Peter V. Minorsky, Robert B. Jackson Chapter 15 The Chromosomal Basis of Inheritance

More information

12.1 X-linked Inheritance in Humans. Units of Heredity: Chromosomes and Inheritance Ch. 12. X-linked Inheritance. X-linked Inheritance

12.1 X-linked Inheritance in Humans. Units of Heredity: Chromosomes and Inheritance Ch. 12. X-linked Inheritance. X-linked Inheritance Units of Heredity: Chromosomes and Inheritance Ch. 12 12.1 in Humans X-chromosomes also have non genderspecific genes Called X-linked genes Vision Blood-clotting X-linked conditions Conditions caused by

More information

Karyotypes Detect Chromosome Mutations

Karyotypes Detect Chromosome Mutations Karyotypes Detect Chromosome Mutations Chromosomes may become altered during meiosis. These mutations involve large sections that involve many genes. Chromosome may have sections deleted, duplicated, inverted,

More information

The Chromosomal Basis of Inheritance

The Chromosomal Basis of Inheritance LECTURE PRESENTATIONS For CAMPBELL BIOLOGY, NINTH EDITION Jane B. Reece, Lisa A. Urry, Michael L. Cain, Steven A. Wasserman, Peter V. Minorsky, Robert B. Jackson Chapter 15 The Chromosomal Basis of Inheritance

More information

Chromosome Structure & Recombination

Chromosome Structure & Recombination Chromosome Structure & Recombination (CHAPTER 8- Brooker Text) April 4 & 9, 2007 BIO 184 Dr. Tom Peavy Genetic variation refers to differences between members of the same species or those of different

More information

3. What law of heredity explains that traits, like texture and color, are inherited independently of each other?

3. What law of heredity explains that traits, like texture and color, are inherited independently of each other? Section 2: Genetics Chapter 11 pg. 308-329 Part 1: Refer to the table of pea plant traits on the right. Then complete the table on the left by filling in the missing information for each cross. 6. What

More information

Ch. 15 The Chromosomal Basis of Inheritance

Ch. 15 The Chromosomal Basis of Inheritance Ch. 15 The Chromosomal Basis of Inheritance Nov 12 12:58 PM 1 Essential Question: Are chromosomes the basis of inheritance? Nov 12 1:00 PM 2 1902 Walter S. Sutton, Theodor Boveri, et al Chromosome Theory

More information

Problem set questions from Final Exam Human Genetics, Nondisjunction, and Cancer

Problem set questions from Final Exam Human Genetics, Nondisjunction, and Cancer Problem set questions from Final Exam Human Genetics, Nondisjunction, and ancer Mapping in humans using SSRs and LOD scores 1. You set out to genetically map the locus for color blindness with respect

More information

Chromosomes and Human Inheritance. Chapter 11

Chromosomes and Human Inheritance. Chapter 11 Chromosomes and Human Inheritance Chapter 11 11.1 Human Chromosomes Human body cells have 23 pairs of homologous chromosomes 22 pairs of autosomes 1 pair of sex chromosomes Autosomes and Sex Chromosomes

More information

Meiosis and Introduction to Inheritance

Meiosis and Introduction to Inheritance Meiosis and Introduction to Inheritance Instructions Activity 1. Getting Started: Build a Pair of Bead Chromosomes Materials bag labeled diploid human genome (male) bag labeled diploid human genome (female)

More information

Biology Final Exam Review. SI Leader Taylor (Yeargain, MWF 1:30-2:20)

Biology Final Exam Review. SI Leader Taylor (Yeargain, MWF 1:30-2:20) Biology Final Exam Review SI Leader Taylor (Yeargain, MWF 1:30-2:20) General Information Review Session Please fill in any available space, and move to the front of the room! Thank you for coming Exam

More information

Chapter 15: The Chromosomal Basis of Inheritance

Chapter 15: The Chromosomal Basis of Inheritance Name Period Chapter 15: The Chromosomal Basis of Inheritance Concept 15.1 Mendelian inheritance has its physical basis in the behavior of chromosomes 1. What is the chromosome theory of inheritance? 2.

More information

Lesson Overview Human Chromosomes

Lesson Overview Human Chromosomes Lesson Overview 14.1 Human Chromosomes Human Genome To find what makes us uniquely human, we have to explore the human genome, which is the full set of genetic information carried in our DNA. This DNA

More information

Chromosomal Basis of Inherited Disorders

Chromosomal Basis of Inherited Disorders Chromosomal Basis of Inherited Disorders Bởi: OpenStaxCollege Inherited disorders can arise when chromosomes behave abnormally during meiosis. Chromosome disorders can be divided into two categories: abnormalities

More information

Topic 4 Year 10 Biology

Topic 4 Year 10 Biology Topic 4 Year 10 Biology TOPIC 4 CHROMOSOMES & CELL DIVISION Things to cover: 1. Chromosomes 2. Karyotypes inc. chromosomal disorders 3. Cell division inc. mitosis, meiosis & fertilisation Work to do: 1.

More information

Structural Chromosome Aberrations

Structural Chromosome Aberrations Structural Chromosome Aberrations 2 Structural chromosome aberrations or chromosome mutations represent apart from aneuploidies the most frequent pathologic findings in applied chromosome diagnostics.

More information

Introduction to genetic variation. He Zhang Bioinformatics Core Facility 6/22/2016

Introduction to genetic variation. He Zhang Bioinformatics Core Facility 6/22/2016 Introduction to genetic variation He Zhang Bioinformatics Core Facility 6/22/2016 Outline Basic concepts of genetic variation Genetic variation in human populations Variation and genetic disorders Databases

More information

8/31/2017. Biology 102. Lecture 10: Chromosomes and Sex Inheritance. Independent Assortment. Independent Assortment. Independent Assortment

8/31/2017. Biology 102. Lecture 10: Chromosomes and Sex Inheritance. Independent Assortment. Independent Assortment. Independent Assortment Biology 102 Lecture 10: Chromosomes and Sex Inheritance All of our examples of inheritance patterns have focused on single genes Humans have 25,000 genes! Genes on the same chromosome are inherited together

More information

MULTIFACTORIAL DISEASES. MG L-10 July 7 th 2014

MULTIFACTORIAL DISEASES. MG L-10 July 7 th 2014 MULTIFACTORIAL DISEASES MG L-10 July 7 th 2014 Genetic Diseases Unifactorial Chromosomal Multifactorial AD Numerical AR Structural X-linked Microdeletions Mitochondrial Spectrum of Alterations in DNA Sequence

More information

AS90163 Biology Describe the transfer of genetic information Part 1 - DNA structure & Cell division

AS90163 Biology Describe the transfer of genetic information Part 1 - DNA structure & Cell division AS90163 Biology Describe the transfer of genetic information Part 1 - DNA structure & Cell division This achievement standard involves the description of the transfer of genetic information. Achievement

More information

Today s Topics. Cracking the Genetic Code. The Process of Genetic Transmission. The Process of Genetic Transmission. Genes

Today s Topics. Cracking the Genetic Code. The Process of Genetic Transmission. The Process of Genetic Transmission. Genes Today s Topics Mechanisms of Heredity Biology of Heredity Genetic Disorders Research Methods in Behavioral Genetics Gene x Environment Interactions The Process of Genetic Transmission Genes: segments of

More information

GENETICS - NOTES-

GENETICS - NOTES- GENETICS - NOTES- Warm Up Exercise Using your previous knowledge of genetics, determine what maternal genotype would most likely yield offspring with such characteristics. Use the genotype that you came

More information

The Chromosomal Basis of Inheritance

The Chromosomal Basis of Inheritance LECTURE PRESENTATIONS For CAMPBELL BIOLOGY, NINTH EDITION Jane B. Reece, Lisa A. Urry, Michael L. Cain, Steven A. Wasserman, Peter V. Minorsky, Robert B. Jackson Chapter 15 The Chromosomal Basis of Inheritance

More information

AGENDA for 03/06/14 AGENDA: HOMEWORK: Due Fri, 03/07 OBJECTIVES: Unit 3 Exam on Tues, What is the Probability?

AGENDA for 03/06/14 AGENDA: HOMEWORK: Due Fri, 03/07 OBJECTIVES: Unit 3 Exam on Tues, What is the Probability? AGENDA for 03/06/14 AGENDA: 1. 3.4.2. What is the Probability? OBJECTIVES: 1. Use pedigrees and Punnett squares to calculate the probability than an individual will inherit sickle cell disease HOMEWORK:

More information

Learning Outcomes: The following list provides the learning objectives that will be covered in the lectures, and tutorials of each week:

Learning Outcomes: The following list provides the learning objectives that will be covered in the lectures, and tutorials of each week: Course Code Course Title ECTS Credits MED-306 Medical Genetics 6 School Semester Prerequisites Medical School Spring (Semester 6) MED-103 Biology I MED-109 Biology II MED-204 Biochemistry I MED-209 Biochemistry

More information

10/26/2015. ssyy, ssyy

10/26/2015. ssyy, ssyy Biology 102 Lecture 10: Chromosomes and Sex Inheritance All of our examples of inheritance patterns have focused on single genes Humans have 25,000 genes! Genes on the same chromosome are inherited together

More information

GENETIC VARIATION AND PATTERNS OF INHERITANCE. SOURCES OF GENETIC VARIATION How siblings / families can be so different

GENETIC VARIATION AND PATTERNS OF INHERITANCE. SOURCES OF GENETIC VARIATION How siblings / families can be so different 9/22/205 GENETIC VARIATION AND PATTERNS OF INHERITANCE SOURCES OF GENETIC VARIATION How siblings / families can be so different Independent orientation of chromosomes (metaphase I of meiosis) Random fertilization

More information

Mutations. A2 Biology For WJEC

Mutations. A2 Biology For WJEC 12. Mutation is a change in the amount, arrangement or structure in the DNA of an organism. 13. There are two types of mutations, chromosome mutations and gene mutations. Mutations A2 Biology For WJEC

More information

Mutations. Any change in DNA sequence is called a mutation.

Mutations. Any change in DNA sequence is called a mutation. Mutations Mutations Any change in DNA sequence is called a mutation. Mutations can be caused by errors in replication, transcription, cell division, or by external agents. Mutations Mutations can be harmful.

More information

12 Biology Revision Notes - Term 3

12 Biology Revision Notes - Term 3 QCE Biology Year 2016 Mark 0.00 Pages 21 Published Jan 24, 2017 Revision Notes - Term 3 By Sophie (1 ATAR) Powered by TCPDF (www.tcpdf.org) Your notes author, Sophie. Sophie achieved an ATAR of 1 in 2016

More information

Unit 5 Review Name: Period:

Unit 5 Review Name: Period: Unit 5 Review Name: Period: 1 4 5 6 7 & give an example of the following. Be able to apply their meanings: Homozygous Heterozygous Dominant Recessive Genotype Phenotype Haploid Diploid Sex chromosomes

More information

Inheritance. Children inherit traits from both parents.

Inheritance. Children inherit traits from both parents. Have you ever been told you have your mother s eyes or your father s smile? Have you ever noticed you share your grandfather s eye color or possibly your grandmother s curly hair, and yet your parents

More information

Recessive Genetic Disorders! A recessive trait is expressed when the individual is homozygous recessive for the trait.

Recessive Genetic Disorders! A recessive trait is expressed when the individual is homozygous recessive for the trait. Section 1 Basic Patterns of Human Inheritance Recessive Genetic Disorders! A recessive trait is expressed when the individual is homozygous recessive for the trait. Section 1 Section 1 Table 11.2 Recessive

More information

Mendelian Genetics. Activity. Part I: Introduction. Instructions

Mendelian Genetics. Activity. Part I: Introduction. Instructions Activity Part I: Introduction Some of your traits are inherited and cannot be changed, while others can be influenced by the environment around you. There has been ongoing research in the causes of cancer.

More information

Chapter 11 Patterns of Chromosomal Inheritance

Chapter 11 Patterns of Chromosomal Inheritance Inheritance of Chromosomes How many chromosomes did our parents gametes contain when we were conceived? 23, 22 autosomes, 1 sex chromosome Autosomes are identical in both male & female offspring For the

More information

Section Chapter 14. Go to Section:

Section Chapter 14. Go to Section: Section 12-3 Chapter 14 Go to Section: Content Objectives Write these Down! I will be able to identify: The origin of genetic differences among organisms. The possible kinds of different mutations. The

More information

Diploma in Equine Science

Diploma in Equine Science The process of meiosis is summarised in the diagram below, but it involves the reduction of the genetic material to half. A cell containing the full number of chromosomes (two pairs) is termed diploid,

More information

Semester 2- Unit 2: Inheritance

Semester 2- Unit 2: Inheritance Semester 2- Unit 2: Inheritance heredity -characteristics passed from parent to offspring genetics -the scientific study of heredity trait - a specific characteristic of an individual genes -factors passed

More information

Chapter 10 Notes Patterns of Inheritance, Part 1

Chapter 10 Notes Patterns of Inheritance, Part 1 Chapter 10 Notes Patterns of Inheritance, Part 1 I. Gregor Mendel (1822-1884) a. Austrian monk with a scientific background b. Conducted numerous hybridization experiments with the garden pea, Pisum sativum,

More information

The bases on complementary strands of DNA bond with each other in a specific way A-T and G-C

The bases on complementary strands of DNA bond with each other in a specific way A-T and G-C 1 Bio 1101 Lecture 6 (Guided Notes) Ch. 8: Cellular Basis of Reproduction 2 3 4 5 6 Cellular Basis of Reproduction & Inheritance In order for an organism to replace dead cells or to grow and produce new

More information

Chapter 15 Notes 15.1: Mendelian inheritance chromosome theory of inheritance wild type 15.2: Sex-linked genes

Chapter 15 Notes 15.1: Mendelian inheritance chromosome theory of inheritance wild type 15.2: Sex-linked genes Chapter 15 Notes The Chromosomal Basis of Inheritance Mendel s hereditary factors were genes, though this wasn t known at the time Now we know that genes are located on The location of a particular gene

More information

A. Incorrect! All the cells have the same set of genes. (D)Because different types of cells have different types of transcriptional factors.

A. Incorrect! All the cells have the same set of genes. (D)Because different types of cells have different types of transcriptional factors. Genetics - Problem Drill 21: Cytogenetics and Chromosomal Mutation No. 1 of 10 1. Why do some cells express one set of genes while other cells express a different set of genes during development? (A) Because

More information

14 2 Human Chromosomes

14 2 Human Chromosomes 14-2 Human Chromosomes 1 of 25 Sex-Linked Genes Sex-Linked Genes The X chromosome and the Y chromosomes determine sex. Genes located on these chromosomes are called sex-linked genes. More than 100 sex-linked

More information

CONTROL OF CELL DIVISION

CONTROL OF CELL DIVISION CONTROL OF CELL DIVISION Regulation of cell division is necessary to determine when and how cells should divide. Types of Regulators: Internal regulators: Cyclins proteins that regulate the timing of the

More information

Chromosomal Aberrations

Chromosomal Aberrations Chromosomal Aberrations Chromosomal Aberrations Abnormalities of chromosomes may be either numerical or structural and may involve one or more autosomes, sex chromosomes, or both simultaneously. Numerical

More information

GENE EXPRESSION. Amoeba Sisters video 3pk9YVo. Individuality & Mutations

GENE EXPRESSION. Amoeba Sisters video   3pk9YVo. Individuality & Mutations Amoeba Sisters video https://www.youtube.com/watch?v=giez 3pk9YVo GENE EXPRESSION Individuality & Mutations Complete video handout http://www.amoebasisters.com/uploads/ 2/1/9/0/21902384/video_recap_of_muta

More information

Chapter 4 PEDIGREE ANALYSIS IN HUMAN GENETICS

Chapter 4 PEDIGREE ANALYSIS IN HUMAN GENETICS Chapter 4 PEDIGREE ANALYSIS IN HUMAN GENETICS Chapter Summary In order to study the transmission of human genetic traits to the next generation, a different method of operation had to be adopted. Instead

More information

Ch 7 Extending Mendelian Genetics

Ch 7 Extending Mendelian Genetics Ch 7 Extending Mendelian Genetics Studying Human Genetics A pedigree is a chart for tracing genes in a family. Used to determine the chances of offspring having a certain genetic disorder. Karyotype=picture

More information

Biology 105: Introduction to Genetics Midterm EXAM. Part1. Definitions. 1 Recessive allele. Name. Student ID. 2 Homologous chromosomes

Biology 105: Introduction to Genetics Midterm EXAM. Part1. Definitions. 1 Recessive allele. Name. Student ID. 2 Homologous chromosomes Biology 105: Introduction to Genetics Midterm EXAM Part1 Definitions 1 Recessive allele Name Student ID 2 Homologous chromosomes Before starting, write your name on the top of each page Make sure you have

More information

MR. DALLINGA S BIOLOGY

MR. DALLINGA S BIOLOGY MR. DALLINGA S BIOLOGY Gregor Mendel Facts Born July 22 nd 1822 in Czechoslovakia A region of Austria. Today is Czech republic. Life of Poverty Entered a monastery to get an education The monastery was

More information

Classifications of genetic disorders disorders

Classifications of genetic disorders disorders Classifications of genetic disorders Dr. Liqaa M. Sharifi Human diseases in general can roughly be classified in to: 1-Those that are genetically determined. 2-Those that are almost entirely environmentally

More information

The basic methods for studying human genetics are OBSERVATIONAL, not EXPERIMENTAL.

The basic methods for studying human genetics are OBSERVATIONAL, not EXPERIMENTAL. Human Heredity Chapter 5 Human Genetics 5:1 Studying Human Genetics Humans are not good subjects for genetic research because: 1. Humans cannot ethically be crossed in desired combinations. 2. Time between

More information

Chromosomes, Mapping, and the Meiosis-Inheritance Connection. Chapter 13

Chromosomes, Mapping, and the Meiosis-Inheritance Connection. Chapter 13 Chromosomes, Mapping, and the Meiosis-Inheritance Connection Chapter 13 Chromosome Theory Chromosomal theory of inheritance - developed in 1902 by Walter Sutton - proposed that genes are present on chromosomes

More information

Chapter 8. The Cellular Basis of Reproduction and Inheritance. Lecture by Mary C. Colavito

Chapter 8. The Cellular Basis of Reproduction and Inheritance. Lecture by Mary C. Colavito Chapter 8 The Cellular Basis of Reproduction and Inheritance PowerPoint Lectures for Biology: Concepts & Connections, Sixth Edition Campbell, Reece, Taylor, Simon, and Dickey Copyright 2009 Pearson Education,

More information

Meiosis. 4. There are multiple alleles for the ABO blood group. Why are there only two of these alleles normally present in any one individual?

Meiosis. 4. There are multiple alleles for the ABO blood group. Why are there only two of these alleles normally present in any one individual? Name: ate: 1. The diagram shown represents a cell that will undergo mitosis. Which diagrams below best illustrate the nuclei of the daughter cells that result from a normal mitotic cell division of the

More information

Chapter 15 Chromosomes

Chapter 15 Chromosomes Chapter 15 Chromosomes Chromosome theory of inheritance Genes located on chromosomes = gene locus Thomas Hunt Morgan, Columbia Univ. Fly room Drosophila 100s of offspring 2n = 8 3 prs autosomes X and Y

More information

THE CHROMOSOMAL BASIS OF INHERITANCE CHAPTER 15

THE CHROMOSOMAL BASIS OF INHERITANCE CHAPTER 15 THE CHROMOSOMAL BASIS OF INHERITANCE CHAPTER 15 What you must know: Inheritance in sex-linked genes. Inheritance of linked genes and chromosomal mapping. How alteration of chromosome number or structurally

More information

Chapter 1 : Genetics 101

Chapter 1 : Genetics 101 Chapter 1 : Genetics 101 Understanding the underlying concepts of human genetics and the role of genes, behavior, and the environment will be important to appropriately collecting and applying genetic

More information

General Embryology. School of Medicine Department of Anatomy and Histology School of medicine The University of Jordan

General Embryology. School of Medicine Department of Anatomy and Histology School of medicine The University of Jordan General Embryology 2019 School of Medicine Department of Anatomy and Histology School of medicine The University of Jordan https://www.facebook.com/dramjad-shatarat What is embryology? Is the science that

More information

VOCABULARY somatic cell autosome fertilization gamete sex chromosome diploid homologous chromosome sexual reproduction meiosis

VOCABULARY somatic cell autosome fertilization gamete sex chromosome diploid homologous chromosome sexual reproduction meiosis SECTION 6.1 CHROMOSOMES AND MEIOSIS Study Guide KEY CONCEPT Gametes have half the number of chromosomes that body cells have. VOCABULARY somatic cell autosome fertilization gamete sex chromosome diploid

More information

Chromosomes. Bacterial chromosomes are circular. Most higher organisms have linear chromosomes with a centromere that attaches them to the spindle

Chromosomes. Bacterial chromosomes are circular. Most higher organisms have linear chromosomes with a centromere that attaches them to the spindle 1 Chromosomes Bacterial chromosomes are circular Most higher organisms have linear chromosomes with a centromere that attaches them to the spindle Centromere can be in the center (metacentric), off-center

More information