Advances in Human Genetics 1: Volume 17

ISBN-13: 9781461282792 / Angielski / Miękka / 2011 / 230 str.

Harry Harris; Kurt Hirschhorn

Spis treści

1 Chorionic Villus Sampling.- Early Trophoblast Development.- Historical Perspectives.- Techniques of Chorionic Villus Sampling.- Overview.- Transcervical Catheter Aspiration.- Transcervical Endoscopy.- Transcervical Biopsy Forceps.- Transabdominal Sampling.- Sample Processing.- Chromosomal Analysis.- Direct Karyotype Analysis.- Karyotype Analysis of Cultured Villi.- Results of Karyotype Analysis.- Metabolic Analysis of Chorionic Villi.- Overview.- Metabolic Disorders Diagnosed.- Pitfalls of Metabolic Diagnosis.- DNA Analysis of Chorionic Villi.- Overview.- DNA Disorders Diagnosed.- Pitfalls in DNA Diagnosis of Chorionic Villi.- Contraindications to Chorionic Villus Sampling.- Safety of Chorionic Villus Sampling.- Future Applications.- References.- 2 The Molecular Genetics of Hemophilia A and B in Man: Factor VIII and Factor IX Deficiency.- Hemophilia A. Factor VIII Gene.- Cloning and Characterization of Factor VIII Gene and the Deduced Protein Sequence.- Mutations in the Factor VIII Gene in Hemophilia A.- DNA Polymorphisms in the Factor VIII Gene.- Hemophilia B. Factor IX Gene.- Cloning and Characterization of Factor IX Gene.- Mutations in the Factor IX Gene in Hemophilia B.- DNA Polymorphisms in the Factor IX Gene.- X-Chromosome Mapping of Factor VIII and IX Genes.- Lessons from the Study of the Molecular Genetics of Hemophilia.- References.- 3 Cloning of the Duchenne/Becker Muscular Dystrophy Locus.- Background Information: Clinical Aspects of DMD.- Background Information: Biochemical Aspects of DMD.- Chromosomal Map Position.- Strategies to Approach the Gene.- Detection of Deletions in DMD and BMD Patients.- Identification of the DMD Transcript.- The DMD Locus.- The DMD/BMD Protein.- Future Prospects.- References.- 4 Trisomy 21: Molecular and Cytogenetic Studies of Nondisjunction.- Scope of the Problem.- Problems to Be Addressed.- Correct and Complete Ascertainment of Parental Origin of Nondisjunction.- The Maternal Age Conundrum: Is the Maternal Age Effect due to Increased Production of Abnormal Eggs or Decreased Destruction of Abnormal Embryos?.- Identification of Couples at High Risk for Trisomy 21 Offspring..- Is There a Correlation between Crossing Over and Nondisjunction on Chromosome 21?.- The Effect of the Parental Origin of Trisomy on the Phenotype of the Conceptus.- Molecular Cytogenetic Organization of Chromosome 21: Implications for Studies of Nondisjunction.- Organization of DNA Sequences on the Short Arms of the Acrocentric Chromosomes.- The Interspersed 724 Family on the Acrocentric Short Arms.- Isolation of a Large Number of Polymorphic Single-Copy DNA Probes That Span the Long Arm of Chromosome 21.- Lessons from a Pilot Study.- An Experimental Design to Answer the Basic Questions Related to Nondisjunction.- Complete Ascertainment of Parental Origin and Meiotic Stage of Nondisjunction.- The Maternal Age Conundrum: Is the Maternal Age Effect due to Increased Production of Abnormal Eggs or Decreased Destruction of Abnormal Embryos?.- Identification of Couples at High Risk for Trisomy 21 Offspring.- Is There a Correlation between Crossing Over and Nondisjunction on Chromosome 21?.- The Effect of the Parental Origin of Trisomy on the Phenotype of the Conceptus.- Overview.- References.- 5 Molecular Genetics of Human Salivary Proteins and Their Polymorphisms.- Salivary Protein Polymorphisms.- Salivary Amylase (Amy).- B12-Binding Protein (Rs).- Salivary Acid Phosphatase (s-AcP).- Genetic Polymorphisms of Proline-Rich Proteins (PRPs).- Salivary Peroxidase (SAPX).- Parotid Basic Proteins (Pb).- Other Polymorphisms in Human Saliva.- Molecular Genetic Studies.- The Proline-Rich Protein (PRP) Gene Family.- Statherin.- Amylase Gene Family.- Cystatin Gene Family.- References.- Addendum.