300 Index. J Joubert syndrome, 53 Juvenile myelomonocytic leukemia (JMML), 53

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1 Index A Achondroplasia (ACH), 46 Acute lymphoid leukaemia HLA typing, 192, 194 pedigree, 197 Acyl-CoA dehydrogenase, 46 Adenomatous polyposis of colon (APC), 46, 102 Adenosine deaminase deficiency (ADA), 46 Adrenoleukodystrophy (ALD), 46, 162 Agammaglobulinemia, X-linked, 46, 162 Aicardi Goutieres syndrome, 46 Albinism, ocular, 46, 162, 276 Alcohol consumption, 1 Allele dropout (ADO), 17, 27 31, 80, , , 174 Alopecia universalis congenita (ALUNC), 46 Alpers disease, 46 Alpha-1 antitrypsin deficiency (AAT), 46 Alpha thalassemia, 62 Alport syndrome, 46, 79, 162 Alzheimer disease (AD), 46 amyloid precursor protein gene mutation, 127 early-onset, 49, preimplantation diagnosis, 129 primers and reaction conditions, 128 Amniocentesis, 151, 152, 291 Amyloidosis, 46 Amyloid precursor protein (APP), 127, 129 Amyotrophic lateral sclerosis, 46 Aneuploidies. See also Chromosomal disorders autosomal monosomy detection, embryos detection and avoidance, female meiosis, errors and aneuloidy rescue, mitotic errors, cleaving embryos, prediction inconsistensy, testing meiosis I and meiosis II errors, PCR-based, uniparental disomies, Angelman syndrome, 46 Angioedema, hereditary (HAE), 46 Argininosuccinic aciduria, 46 Array CGH analysis, 267 Arthrogryposis, 46 Artificial gametes, Ataxia-telangiectasia (AT), 47, 113, 182 Autosomal-dominant disorders CMT, PTD GAG deletion, DYT1 gene, pedigree and PGD outcome, 71, 72 phenotypic variability, 71 primer sequences and reaction conditions, 71, 74 Autosomal-dominant polycystic kidney disease (ADPKD) causes, 94 PKD-1 gene polar body and blastomere testing, preimplantation linked marker analysis, 95 primers and reaction conditions, 95, 97 PKD-2 gene polar body and blastomere testing, preimplantation linked marker analysis, 96 primers and reaction conditions, 95, 98 Autosomal-recessive diseases CFTR, familial disautonomia characteristic features, IKBKAP gene mutation, 65 pedigree, 64 primers and PCR conditions, 66, 67 hemoglobinopathies alpha thalassemia, 62 beta-globin gene mutations, 60, 61 clinical outcome, PGD, 61 SMA primers and PCR conditions, 68, 70 survival motor neuron gene, 68, 69 B Basal cell nevus syndrome, 47, 102 Becker muscular dystrophy, Beckwith Wiedemann syndrome, 231, 260 Beta-globin gene mutations, 60 Biopsy blastocyst, blastomere, 14, 34, 71, 141 embryo, PEGD (see Pre-embryonic genetic diagnosis (PEGD))polar body, Blastocyst biopsy, A. Kuliev, Practical Preimplantation Genetic Diagnosis, DOI / , Springer-Verlag London

2 298 Index Blastomere nuclear conversion, Blepharophimosis, ptosis and epicanthus inversus (BPES), 47 Blood group incompatibility, Bone marrow transplantation, 171 Brachydactyly, 47, 102 Brain tumor, 47, 102, 113, Breast cancer, 47, 113, 120, 121 Breast-ovarian cancer, 47 C Canavan disease, 47 Cancer predisposition breast cancer, 120, 121 colorectal cancer, familial posterior fossa brain tumor, 125, 126 neurofibromatosis, PGD experience for, 112, 113 primers and reaction conditions, 123 p53 tumor suppressor gene mutations, retinoblastoma, 125 VHL, Carbamoyl phosphate synthetase I deficiency, 47 Cardioencephalomyopathy, 47, 132, 133, 138 Cardiomyopathy dilated. See Dilated cardiomyopathy (CMD) familial hypertrophic, 47, 134, Carnitine deficiency, 47 Ceroid lipofuscinosis, 47 CFTR. See Cystic fibrosis (CFTR) Charcot-Marie-Tooth (CMT) disease, 48, Chemical conversion method, Cholestasis, 48 Chondrodysplasia punctata, 48 Chorionic villus sampling (CVS), 18, , 291 Choroideremia (CHM), 48, 79 Chromosomal disorders aneuploid embryos detection and avoidance, aneuploidy types prediction inconsistensy, autosomal monosomy detection, chromosomal rearrangements blastomere nuclear conversion, chemical conversion method, polar body approach, chromosome-specific meiotic error, female meiosis, errors and aneuloidy rescue, meiosis I and meiosis II errors testing abnormal oocytes types, 211, 212 array-cgh pattern, 217 chromosomal abnormalities, human oocytes, chromosome aneuploidy testing, 217, 218 chromosome segregation errors, 213 extra chromatid errors, 216 frequency and types, 212 missing chromatids, 214 monosomy 18, 216 PB2 FISH analysis, 213, 214 trisomy 21, 215 mitotic errors, cleaving embryos autosomal monosomies, 227 chromosome specific aneuploidy rates, 227 chromosome 13, 16, 18, 21 & 22 testing, 224, 225 mosaicism, 225 reproductive age, 225 sequential chromosome 21 errors, trisomy rescue, 225, 227 PB1 morphological grading ( see PB1, morphological grading) PCR-based aneuploidy testing, uniparental disomies, Chromosomal translocations blastomere nuclear conversion, chemical conversion method, limitations, 233 polar body approach, Chromosome aneuploidy testing, Chromosome-specific meiotic error, Chronic granulomatous disease, 111 Ciliary dyskinesia, primary, 48 Citrullinemia, 48 CMT disease. See Charcot-Marie-Tooth (CMT) disease Coenzyme Q10 deficiency, 48 Cohen syndrome, 48 Colorectal cancer, 48 Congenital adrenal hyperplasia (CAH), 48 Congenital disorder of glycosylation, 48, Congenital malformations Crouson syndrome, Currarino syndrome, sonic hedgehog gene mutation, Corneal dystrophy, 48, 102 Craniofacial dysostosis, 48 Crouson syndrome, Currarino syndrome (CS), 48, Cutis laxa, 48 Cystic fibrosis (CF), 11, 49, Cystinosis, 49 D Darier White disease, 49 D-bifunctional protein deficiency, 49 De novo mutations (DNM) autosomal-recessive DNM, benign mutant haplotype, 110 chronic granulomatous disease, 111 in NF1 gene, in NF2 gene, outcome of PGD, testing and clinical outcome, Designer babies, 294 Diamond-Blackfan anemia (DBA), 49, 195 Dihydroxyadenine urolithiasis, 49 Dilated cardiomyopathy (CMD), 47 characterization, 131 mutation in LMNA gene, 131, 133 polymorphic markers, 132 primers and reaction conditions, 132, 133 Disomies, DNA analysis, 27 30

3 Index 299 Donohue syndrome, 49 Down syndrome, prevention program, 2 Duchenne muscular dystrophy (DMD), 79, 80 Dynamic mutations Machado Joseph disease, myotonic dystrophy, 153, 156 Dyskeratosis congenita, 49 Dystrophia myotonica, 49 E Ectodermal dysplasia, 49 Ehlers Danlos syndrome, 49 Electrofusion, 34 Embryo biopsy, Embryonic stem cells (ESC). See Human embryonic stem cell (hesc) lines Embryo viability, 13, Emery-Dreiffus muscular dystrophy (EMD), 49, 133, 139 Epidermolysis bullosa, Epileptic encephalopathy, 50, 102 Epiphyseal dysplasia, 50 Exostoses, 50, 102 Expand long template (ELT) kit, 29, 153 F Fabry disease, 50, 101 Facioscapulohumeral muscular dystroph, 50, 102 Familial adenomatosis polyposis (FAP), Familial disautonomia (FD) characteristic features, IKBKAP gene mutation, 65 pedigree, 64 primers and PCR conditions, 66, 67 Familial Mediterranean fever, 50 Fanconi anemia (FA), 50 blastomere genotyping, 172 bone marrow transplantation, 171 HLA-A and HLA-B testing, 172 indications, 173 Fanconi anemia complementation group A (FANCA), Fetal ultrasound, 2 First polar body. See PB1 FISH analysis. See also individual conditions polar body sampling, 213, 214 single-cell genetic analysis, Fluorescence PCR, 29 FMR1. See Fragile-X syndrome (FMR1) Folate deficiency, 6 Folate intake, 6, 7 Folic acid, 1 Folic acid fortification, 7 8 and reduced incidence of congenital malformations, 7 Fragile site mental retardation 1, 50 Fragile-X syndrome (FMR1), 79, 80, Fraser syndrome, 50 Friedreich ataxia, 50 G Galactosemia, 50 Gangliosidosis, 39 40, 50 Gastric cancer, 51 Gaucher disease (GD), 51, 101 German Embryo Protection Act, 290 Geroderma osteodysplasticum, 51 Gerstmann Straussler disease (GSD), 51 Glaucoma, 51 Glucose-6-phosphate dehydrogenase, 51 Glucose transport defect, 51 Glutaric acidemia I, 51 Glycogen storage disease, 51 Gorlin syndrome, 102 Granulomatous disease, chronic, 51, 103, 111, 174 Griscelli syndrome, 51 H Haploidization, Hemochromatosis, 51 Hemoglobin alpha locus, 51 Hemoglobin beta locus, 51 Hemoglobinopathies alpha thalassemia, 62 beta-globin gene mutations, 60, 61 clinical outcome, PGD, 61 Hemolytic disease of newborn (HDN), , 143 Hemophagocytic lymphohistiocytosis, 51 Hemophilia, 51, 79 Hereditary motor and sensory neuropathy, 51 Hereditary nonpolyposis coli, 48 Heterokaryons, 34 HLA typing, 12 Fanconi anemia, 171 immunodeficiencies (see Severe congenital immunodeficiencies (SCID)) implications of, limitations and future aspects, preimplantation HLA matching without PGD, thalassemia, Holoprosencephaly (HPE), 144, 147 Holt Oram syndrome (HOS), 52, 130 Homocysteine, 5 Homocystinuria, 52 Hoyeraal Hreidarsson syndrome (HHS), 52 Human embryonic stem cell (hesc) lines with chromosomal disorders aneuploidy type, 274 chromosomally abnormal embryo, 273 cytogenetic abnormalities, 274, 275 de novo chromosomal abnormalities, karyotyping changes, 274 plating efficiency, sequential errors, 275 SNP analysis, 274 disease specific hesc lines, genetic specific hesc lines

4 300 Index Human embryonic stem cell (hesc) lines (cont.) autosomal dominant disorders, 276 autosomal recessive disorders, 276 Becker muscular dystrophy, fragile-x syndrome, Marfan syndrome, myotonic dystrophy, neufibromatosis type I, 280, 281 thalassemia, X-linked disorders, 276 HIV resistance CCR5del32 allele, 283, 284 HLA matching, naïve immunological features, 284 primers, 284 umbilical cord blood, 283 individual specific hesc lines cybrid cells, 283 fluorescence in-situ hybridization, HLA matched donor, 281 induced pluripotent stem cells, 283 nuclear reprogramming, stembrid technology, 282 sources for blastocyst, 272 ES cells differentiation, morula stage embryos, Hunter syndrome, 79 Huntington disease (HD), 52, 285 Hurler syndrome, 52 Hyalinosis, infantile systemic, 52 Hydrocephalus, 52 Hyperglycinemia, 52 Hyperhomocysteinemia, 5 Hyper-IgE recurrent infection syndrome, 52 Hyper IgM syndrome, 79 Hyperimmunoglobulin M syndrome (HIGM), 185, 189 Hyperinsulinemic hypoglycemia, 52 Hypertrophic cardyomyopathy, 134, Hypomagnesemia, 52 Hypophosphatasia, 52 Hypophosphatemic rickets, 52 I Ichthyosis, 52 IKBKAP gene mutation, 65 Immunodeficiency, 52 Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome, 52 Incontinentia pigmenti, 52, 79, 103 Inherited cardiac diseases cardioencephalomyopathy, 133, 138 dilated cardiomyopathy characterization, 131 mutation in LMNA gene, 131, 133 polymorphic markers, 132 primers and reaction conditions, Emery Dreiffus muscular dystrophy, 133, 139 Holt Oram syndrome, 130 hypertrophic cardyomyopathy, 134, Intracytoplasmic sperm insertion (ICSI), 79 Intrauterine growth retardation (IUGR), 260 Introcytoplasmic sperm injection (ICSI), 14 Isovaleric acidemia (IVA), 53 J Joubert syndrome, 53 Juvenile myelomonocytic leukemia (JMML), 53 K Kallmann syndrome, 53 Kell (KI) genotype family pedigree, 141 preimplantation genetic diagnosis, 142 primers and reaction conditions, 143 Kennedy disease, 46 Krabbe disease, 53 L Late-onset disorders with genetic predisposition Alzheimer disease, cancer predisposition breast cancer, 120, 121 colorectal cancer, familial posterior fossa brain tumor, 125, 126 neurofibromatosis, primers and reaction conditions, 123 p53 tumor-suppressor gene mutations, retinoblastoma, 125 VHL, inherited cardiac diseases ( see Inherited cardiac diseases) Leber congenital amaurosis, 53 Leigh syndrome, 53 Leri-Weill dyschondrosteosis (LWD), 53 Leukoencephalopathy, 53 Li-Fraumeni syndrome (LFS), 53, 113 Lipoid congenital adrenal hyperplasia, 53 Loeys Dietz syndrome, 53 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, 53 Lymphedema-distichiasis syndrome, 53 M Machado Joseph disease (MJD), 53, Marfan syndrome, 53, Meckel syndrome, 53 Mendelian disorders glycosylation, myotonic dystrophy, 164, 166 PB-based approach, X-linked adrenoleukodystrophy, Metachromatic leukodystrophy, 53 Metaphyseal chondrodysplasia, 53

5 Index Methionine, 5 Methylmalonic aciduria, 54 Methyl tetrahydrofolate reductase (MTHFR), 6 Microcephaly, 54 Microcoria-congenital nephrosis syndrome, 54 Microphthalmia, 54 Microtools, 15 Microtubule-associated protein tau, 54 Migraine, 54 Monosomy detection, Morquio syndrome, 54 Mosaic variegated aneuploidy syndrome, 54 MTMD. See Myotubular myotonic dystrophy (MTMD) Mucopolysaccharidosis, 54 Multiple acyl-coa dehydrogenase deficiency, 54 Multiple endocrine neoplasia, 54, 102 Multiple exostoses, 50, 102 Multiplex nested PCR, 17, 29 Multivitamins, 1 Muscular dystrophy, 54. See also Becker muscular dystrophy Mutations. See also individual gene mutations avoidance of, 1 in beta-globin gene, 60 in CFTR gene, 60, 62 paternally derived, Myoclonic epilepsy of Lafora, 54 Myopathy, 54 Myotonia congenita, 54 Myotonic dystrophy (DM), 153, 156, Myotubular myopathy, 54 Myotubular myotonic dystrophy (MTMD), 79, 80 N N-acetylglutamate synthase deficiency, 55 Nail patella syndrome, 55 NEMO gene mutations, Nephrogenic syndrome of inappropriate antidiuresis, 55 Nephrosis, 55 Neufibromatosis type I, 280, 281 Neural-tube defects (NTD), 1, 3 fall in prevalence of, 8 prevention of, 7, 8 reduction, global estimate of, 7 Neuraminidase deficiency, 55 Neurofibromatosis (NF), 55, 102, Neurofilament protein gene (NEFL), 76 Neuropathy, 55 Niemann Pick disease, 55 Noonan syndrome, 55 Norrie disease, 55, 79, 232 O Oculocutaneous albinism, 55 Omenn syndrome (OMS), 55, 178, Optic atrophy, 55, Ornithine transcarbamylase deficiency (OTC), 55, 80, 83 Osteogenesis imperfecta, 55 56, 102 Osteopetrosis, 56 P Pachygyria, 56 Pancreatitis, 56 Partial zona dissection, 25 Paternally derived mutations, PB1 aneuploidy testing, 33 biopsy, fragmentation, 209 grading, 206 chromosome abnormalities, 209 and implantation rates, 208 meiosis I and II errors morphological grading aneuploidy testing, 206 blastocyst stage, 207 blastomere analysis, 207 fertilization rates, 207, 208 hormonal stimulation, 206 ICSI, 206, 207 implantation rates, 208 IVF cycles, 206 monosomy 18 and trisomy 22, 209, 210 normal karyotype, 209, 210 oocyte and embryo chromosome abnormalities, 209 oocytes distribution, 207 viable oocyte and embryo preselection, 206 PB2 aneuploidy testing, 33 biopsy, 17 meiosis II errors, 214 Pelizaeus Merzbacher disease (PMLD), 56, 79, 83, 85 Peutz Jeghers syndrome, 56 Pfeiffer syndrome, 56, 102 Phenylalanine hydroxylase, 91 Phenylketonuria (PKU), 56, Polar body approach, Polar body sampling. See also PB1; PB2 first polar body, FISH analysis, 32 polycystic kidney disease, 99 second polar body, 17 Polycystic kidney disease, 56. See also Autosomaldominant polycystic kidney disease (ADPKD) Polymerase chain reaction (PCR), 13 aneuploidy testing, Charcot-Marie-Tooth disease, 79 familial disautonomia, 67 GAG deletion, 74 multiplex nested, 17, 29 spinal muscular atrophy, 70 Popliteal pterygium syndrome (PPS), 56 Porphyria, 56 Preconception genetic diagnosis, 8

6 302 Index Pre-embryonic genetic diagnosis (PEGD) embryo biopsy, with freezing at pronuclear stage, 15, haploidization, preconception testing, without pronuclear-stage freezing, Preimplantation genetic diagnosis (PGD) advantages, 11 aneuploidy origin, 266 application of, 11, 12 biopsy material advantages and disadvantages, 13 blastocyst-stage embryos, 13 blastomere biopsy method, 14 eight-cell cleavage-stage embryo, 13 matured and fertilized oocytes, 13 PEGD (see Pre-embryonic genetic diagnosis (PEGD)) polar body diagnosis, chromosome aneuploidy testing, congenital abnormalities after, 260 cystic fibrosis, 11 diagnostic accuracy of embryo biopsy, monogenic disorders, 261 polar body based approach, 260 FISH analysis, 11 HLA typing, 12 indications, 11 preimplantation aneuploidy testing aneuploidy-free embryo preselection, 262 cell loss, 262 DNA probes usage, 263 FISH technique, 262 inappropriate equipments usage, 263 single blastomere biopsy, reproductive outcomes in before and after PGD, IVF, pregnancy rate, 261 reciprocal translocations, 261 safety aspects clinical outcome data, 259 vs. ICSI, 260 intrauterine growth retardation, 260 PGD cycles, 259 single-cell genetic analysis DNA analysis, FISH analysis, microarray analysis, single-gene disorders (see Single-gene disorders) X-linked disorders, 11 Premature chromosome condensation (PCC), 34 Prenatal diagnosis, 1 Prevention of genetic disorders Down syndrome pregnancy outcomes, 3 pregnancy termination, 3, 4 prevention of, 2 fetal anomaly scanning, 5 fetal ultrasound, 2 folate deficiency, 6 folic acid food forti fi cation, 5, 7 genetic-nutrient interaction, 6 neural-tube defects, 1 preconception/preimplantation stage, 1, 8 pre-pregnancy vitamin supplementation, 3 single gene disorders, challenges, 5 strategies, 1 Primary torsion dystonia (PTD) GAG deletion, DYT1 gene, pedigree and PGD outcome, 71, 72 phenotypic variability, 71 primer sequences and reaction conditions, 71, 74 Pronuclear morphology scoring, 206 Propionic acidemia, 56 Prosaposin deficiency, 56 Pseudohypoparathyroidism, 56 Pseudovaginal perineoscrotal hypospadias, 56 p53 tumor-suppressor gene mutations, Pyridoxamine 5 -phosphate oxidase deficiency, 56 Pyruvate kinase deficiency, 56 R Reciprocal translocations, 35, , 251 Restrictive dermopathy, 56 Retinitis pigmentosa, 57 Retinoblastoma, 57, 102 Retinoschisis, 57 Rett syndrome, 57, 102 Rhabdoid tumors, 125 Rhesus blood group, 57 Rhesus incompatibility, 143 Robertsonian translocations, 240, 241, Rubella vaccination, 1 S Saethre Chotzen syndrome, 57 Sandhoff disease, 19, 21, 22, 57, 161 Second polar body. See PB2 Severe congenital immunodeficiencies (SCID), 57 ataxia telangiectasia, 182 FANCA, HED-ID, HIGM syndrome, 185, 189 Omen syndrome, 178, results and outcomes, 179 Wiscott-Aldrich syndrome, X-ALD, Short tandem repeat markers, 17, 141 Shwachman Diamond syndrome (SDS), 57 Sickle cell anemia, 57 Single-cell genetic analysis DNA analysis, FISH analysis, microarray analysis, Single-gene disorders, ADPKD, 94 96

7 Index autosomal-dominant disorders CMT, PTD (see Primary torsion dystonia (PTD)) autosomal-recessive diseases CFTR, familial disautonomia, hemoglobinopathies, SMA, blood group incompatibility, congenital malformations Crouson syndrome, Currarino syndrome, sonic hedgehog gene mutation, de novo mutations, dynamic mutations Machado-Joseph disease, myotonic dystrophy, 153, 156 homozygous/double heterozygous recessive conditions phenylketonuria, thalassemia, late-onset disorders with genetic predisposition Alzheimer disease, cancer (see Cancer predisposition) inherited cardiac diseases ( see Inherited cardiac diseases) Mendelian disorders glycosylation, myotonic dystrophy, 164, 166 PB-based approach, X-linked adrenoleukodystrophy, X-linked disorders DMD, 79, 80 FMR1, 79, 80, 83 gender determination, 77, 79 MTMD, 80 OTC, 80, 83 PMD, PMLD, 83 primers and PCR conditions, Single nucleotide polymorphism arrays (SNPa), 267 SMA. See Spinal muscular atrophy (SMA) Smith Lemli Opitz syndrome (SLOS), 57 Smoking, 1 Social and ethical issues embryo selection, embryo transfer, 291 genetic predispositions cancer, early or late onset disorders, inherited cardiac diseases, 293 Hantington s disease, 292 inherited predisposition, 292 late onset common disorders, 292 law restriction, 290 nonmedical use, sex selection, 294 PGD practice guidelines and standards, 290 polar body diagnosis, 290 pregnancy outcome, 291 pregnancy termination and prenatal diagnosis, 291 preimplantation HLA typing, Sonic hedgehog (SHH) gene mutation, 57, pedigree, 144 PGD for, 145 primers and reaction conditions, 146 Sotos syndrome, 57, 102 Spastic paraplegia, 57 Sperm duplication analysis, Spinal muscular atrophy (SMA), 57 primers and PCR conditions, 68, 70 survival motor neuron gene, 68, 69 Spinocerebellar ataxia, 57 Stickler syndrome, 58, 102 Succinic semialdehyde dehydrogenase deficiency, 58 Surfactant metabolism dysfunction, 58 Survival motor neuron (SMN) gene, Symphalangism, T Tay Sachs disease (TSD), 58, 101 Thalassemia, 92 93, Thrombasthenia, 58 Thrombotic thrombocytopenic purpura, 58 Treacher Collins Franceschetti syndrome, 58, 103, 152 Trisomy 21, 215 Trisomy 22, 210, 221 Tuberous sclerosis, 58, 103 Tyrosinemia, 58 U Ulnar-mammary syndrome (UMS), 58 Uniparental disomies, V Vitamin B12, 5 Von Hippel Lindau syndrome (VHL), 58, von Willebrand disease, 17 W Waardenburg syndrome, 58 Whole chromosome painting, 234 Wiskott Aldrich syndrome (WAS), 58, Wolfram syndrome, 58 Wolman disease, 58 X X-linked adrenoleukodystrophy (X-ALD), X-linked disorders, 276 DMD, 79, 80 FMR1, 79, 80, 83 gender determination, 77, 79

8 304 Index X-linked disorders ( cont. ) MTMD, 80 OTC, 80, 83 PMD aneuploidy testing, 84, 87 mutation and polymorphic markers, 85 primers and reaction conditions, 85, 86 uniparental disomy of chromosome 16, 88 PMLD, 83 primers and PCR conditions, X-linked hypohidrotic ectodermal displasia with immune deficiency (HED-ID), Z Zellweger syndrome, 58 Zona pellucida, 16 opening of (3D-PZD), 25