TY  - BOOK
AU  - Jorde,Lynn B.
AU  - Carey,John C.
AU  - White,Raymond L.
TI  - Medical genetics
SN  - 0801664144
AV  - RB155 .J67 1995
U1  - 616.042 JOR 22
PY  - 1995///
CY  - St. Louis
PB  - Mosby
KW  - Medical genetics
KW  - Genetic Diseases, Inborn
KW  - genetics
N1  - Includes bibliographical references and index; 1. Introduction. What is Medical Genetics? Why is a Knowledge of Medical Genetics Important for Today's Practicing Physician? A Brief History. Types of Genetic Diseases. Clinical Impact of Genetic Disease -- 2. Basic Cell Biology: Structure and Function of Genes and Chromosomes. DNA, RNA, and Proteins: Heredity at the Molecular Level. The Structure of Genes and the Genome. The Cell Cycle -- 3. Genetic Variation: Its Origin and Detection. Mutation: The Source of Genetic Variation. Detection and Measurement of Genetic Variation -- 4. Autosomal Dominant and Recessive Inheritance. Basic Concepts of Formal Genetics. Autosomal Dominant Inheritance. Autosomal Recessive Inheritance. Factors that may Complicate Inheritance Patterns. Consanguinity in Human Populations -- 5. Sex-Linked and Mitochondrial Inheritance. X Inactivation. Sex-Linked Inheritance. Sex-Limited and Sex-Influenced Traits. Mitochondrial Inheritance -- 6. Clinical Cytogenetics: The Chromosomal Basis of Human Disease; Cytogenetic Technology and Nomenclature. Abnormalities of Chromosome Number. Chromosome Abnormalities and Pregnancy Loss. Abnormalities of Chromosome Structure. Chromosome Abnormalities and Clinical Phenotypes. Cancer Cytogenetics. Chromosome Instability Syndromes -- 7. Gene Mapping. Genetic Mapping. Physical Mapping. Progress Toward a Complete Human Map -- 8. Immunogenetics. The Immune Response: Basic Concepts. Immune Response Proteins: Genetic Basis of Structure and Diversity. The Major Histocompatibility Complex. The ABO and Rh Blood Groups. Immunodeficiency Diseases -- 9. Cancer Genetics. Causes of Cancer. Inherited Cancer Genes. Identification of Inherited Cancer Genes. Molecular Basis of Cancer. Is Genetic Inheritance Important in Common Cancers? -- 10. Multifactorial Inheritance and Common Disease. Principles of Multifactorial Inheritance. Nature and Nurture: Disentangling the Effects of Genes and Environment. The Genetics of Common Diseases; 11. Genetic Screening, Genetic Diagnosis, and Gene Therapy. Population Screening for Genetic Disease. Molecular Tools for Screening and Diagnosis. Prenatal Diagnosis of Genetic Disorders and Congenital Defects. Fetal Treatment. Gene Therapy -- 12. Clinical Genetics and Genetic Counseling. The Principles and Practices of Clinical Genetics. Dysmorphology and Clinical Teratology
ER  -