Outline of Medical Genetics
Chapter 1:
Introduction
1.1. What is Medical Genetics?
1.2. Why is knowledge of Medical Genetics important for today’s health care
practitioner?
1.3. A brief history
1.4. Types of genetic diseases
1.5. The clinical impact of genetic disease
Chapter 2:
Basic Disciplines in Genetics
2.1 Law of Segregation
2.2 Law of Independent Assortment
2.3 Law of linkage and crossing-over
2.4 Law of sex-linked inheritance
Chapter 3:
Chromosomal Basis of Heredity
3.1. The Human Chromosomes
-Number of human chromosomes
-The human karyotype
3.2. The life cycle of a somatic cell
-Mitosis
-Meiosis
3.3. Human gametogenesis and fertilization
Chapter 4:
The Human Genome: Structure and function of Genes and Chromosomes
4.1 DNA Structure: a brief review
4.2 The Central Dogma: DNA
RNA
Protein
4.3 Fundamentals of gene expression
4.4 Structure of human chromosomes
4.5 Organization of the human genome
4.6 Variation in gene expression and its relevance to medicine
Chapter 5:
Tools of Human Molecular Genetics
5.1 Analysis of Individual DNA and RNA Sequences
-molecular cloning
-a brief review: enzymes; vectors
-construction of libraries
-polymerase chain reaction (PCR)
5.2 Methods of Nucleic Acid Analysis
-southern blotting
-allele-specific oligonucleotide (ASO) analysis
-Northern blotting
-In Situ Hybridization to Chromosomes
-Methods of Protein Analysis: Western blotting
5.3 DNA Sequence Analysis
Chapter 6:
Patterns of Single Gene Inheritance
6.1 Terminology
6.2 Genetic disorders with classical Mendelian inheritance
-Autosomal recessive inheritance
-Patterns of autosomal dominant inheritance
-X-linked inheritance
-Patterns of pseudoautosomal inheritance
6.3 Atypical patterns of Inheritance
6.4 Determining inheritance pattern based on a pedigree
6.5 Genetic heterogeneity
6.6 Estimating recurrence risks
Chapter 7:
Genetic Variation in Individuals: Mutation and Polymorphism
7.1. Mutation
7.2. The Molecular Basis of Mutations and Their Detection
7.3. Human Genetic Diversity
7.4. Inherited Variation and Polymorphism in Proteins
7.5. Inherited Variation and Polymorphism in DNA
7.6. Uses of Polymorphisms in Medical Genetics
Chapter 8:
Genetic Variation in Populations: population genetics
8.1 Genetic Diversity in Human Populations
8.2 Phenotypes, Genotypes, and Gene Frequencies
8.3 The Hardy-Weinberg Law
8.4 Frequency of X-Linked Genes and Genotypes
8.5 Factors That Disturb Hardy-Weinberg Equilibrium
-exception to random mating: stratification; assortative mating;
consanguinity
-exception to constant allele frequency
-genetic drift and gene flow
8.6 Conclusion
Chapter 9:
Gene Mapping and the Human Genome Project
9.1 Physical Mapping of Human Genes
9.2 Mapping Human Genes by Linkage Analysis
9.3 Application of Human Gene Mapping
9.4 The Human Genome Project
Chapter 10:
Principles of Clinical Cytogenetics
10.1 Introduction to Cytogenetics
-Clinical indications for chromosome analysis
-Chromosome identification
10.2 Chromosomal Abnormalities
-Numerical abnormalities
-Structural abnormalities
10.3 Parent-of-Origin Effects
-Genomic Imprinting
-Cytogenetics of Hydatidiform Moles and Ovarian Teratomas
-Confined Placental Mosaicism
10.4 Studies of chromosomes in human meiosis
10.5 Mendelian disorders with cytogenetic effects
10.6 Cytogenetic analysis in cancer
Chapter11:
Clinical Cytogenetics: Disorders of the Autosomes and the Sex
Chromosomes
11.1 Autosomal Disorders
-Down Syndrome
-Trisomy18
-Trisomy13
-Cri Du Chat Syndrome
-Microdeletion Syndromes
11.2 The Sex Chromosomes and their Abnormalities
-The Y chromosome and Sex Determination
-The X chromosome and X-inactivation
-Cytogenetic abnormalities of the sex chromosomes
-Klinefelter syndrome
-47,XYY syndrome
-Trisomy X
-Turner syndrome
Chapter 12:
Principles of Molecular Disease: Lessons from the Hemoglobinopathies
12.1 The effect of mutation on protein function
-Loss-of-function Mutations
-Gain-of-function Mutations
-Novel Property Mutations
-Mutation Associated with Heterochronic or Ectopic Gene Expression
12.2 How Mutations Disrupt the Formation of Biologically Normal Proteins
12.3 Hemoglobins and Their Diseases
-Structure and Function of Hemoglobin
-Developmental Expression of Globin Genes and Globin Swintching
12.4 Genetic Disorders of Hemoglobin
-Hemoglobin Structural Variants
-Hemolytic Anemias
-Sickle Cell Disease
-Thalassemia: An Imbalance of Globin-Chain Synthesis
-The Alpha-Thalassemias
-The Beta- Thalassemias
Chapter 13:
Genetic Disorders with Complex Inheritance
13.1 Genetic analysis of qualitative disease traits and quantitative traits
13.2 Diseases with complex inheritance
13.3 Heritability and the threshold model
13.4 Estimating recurrence risks
Chapter 14: Genetics Counseling
14.1 The process of Genetics Counseling
14.2 Case Management in Genetic Counseling