What Is Medical Genetics?

Medical genetics is the forefront and emerging discipline in medicine. It is the main subject of studying life sciences of birth defects. Medical genetics mainly uses DNA technology to study the relationship between diseases and genes. Develop new diagnostic techniques and treatment methods. It can provide more efficient new medical services at the molecular level for early diagnosis of diseases, prevention of birth defects, and diagnosis and treatment of incurable diseases. Including gene diagnosis, gene therapy, etc.

Medical Genetics

(Books published by People's Medical Publishing House)

Medical genetics is the forefront and emerging discipline in medicine. It is the main subject of studying life sciences of birth defects. Medical genetics mainly uses DNA technology to study the relationship between diseases and genes. Develop new diagnostic techniques and treatment methods. It can provide more efficient new medical services at the molecular level for early diagnosis of diseases, prevention of birth defects, and diagnosis and treatment of incurable diseases. include

Diseases caused by the distortion of the next generation of genetic material caused by the fertilized egg or the mother's body due to environmental or genetic influences. These diseases have some weaknesses or incurables in drug treatment and surgery. Medical genetics technology is mainly applied to

Highlights in Medical Genetics (2nd Edition)

Structure and function of genes

chapter 2

Author: (US) Yunus

Title: Medical Genetics / 5 Year National Higher Medical School Textbook

ISBN: 754390656

Author:

Title: Medical legacy

"Medical Genetics" has a novel layout, compact layout, clear hierarchy, and reasonable structure. Each chapter consists of three major parts: the first part is a guide to inform students of the content and key difficulties to be mastered in this chapter, in order to facilitate teachers' teaching and students to learn related content purposefully; the second part is specific teaching content, and strive to reflect scientific , Applicability, and

Chapter 1 Introduction to Medical Genetics / 1

Section 1 Overview of Medical Genetics / 1

Section 2 Concept of Genetic Diseases / 2

Section 3 Major Types of Genetic Diseases / 2

Section 4 Methods for Recognizing the Genetic Basis of Diseases / 3

I. Census method / 3

Genealogical Analysis Methods / 3

Third, the twin method / 3

Four, chromosome analysis method / 4

V. Disease component analysis / 4

Six, correlation analysis method / 4

Animal Models / 4

Section 5 A Brief History of Medical Genetics and Its Development / 4

Section 6 Research Hotspots of Medical Genetics and Medical Students

Purpose of Studying Medical Genetics / 7

I. Research Hotspots in Medical Genetics / 7

The purpose of medical students studying medical genetics / 7

Chapter 2 The Cellular and Molecular Basis of Heredity / 10

Section 1 Human Chromatin and Chromosomes / 11

I. Chromatin / 11

Chromosome / 12

Cell division in the second quarter / 13

I. Mitosis / 14

Meiosis / 16

Gametogenesis and fertilization / 18

Section III Eukaryotic cell genome and genes / 19

I. The structure of the eukaryotic genome / 19

Second, the basic structure and function of eukaryotic cells genes / 24

Gene expression / 24

Section 4 Gene Mutations and Mutation Types / 26

I. Mutations / 26

Type of gene mutation / 26

Chapter 3 Single Gene Genetic Diseases / 32

Section 1 Basic Laws of Genetics / 33

I. Separation Law / 33

Second, the free combination law / 36

Law of Chain and Swap / 37

Section 2 Genetic Modes of Single Gene Diseases / 39

I. Pedigree and Pedigree Analysis / 40

Autosomal dominant inheritance / 40

Third, autosomal recessive inheritance / 47

X-linked inheritance / 51

Five, Y-linked inheritance / 53

Section 3 Transmission of Two Monogenic Diseases / 54

One or two independent transmissions of single gene disease / 54

Joint transmission of two single gene diseases

Section 4 Mitochondrial Genetic Diseases / 56

I. Structural features and genetic characteristics of mitochondrial DINA / 56

Common mitochondrial genetic diseases / 57

Chapter 4 Polygenic Genetic Diseases / 65

Section 1 Polygenic inheritance and quantitative traits / 66

I. Quality and quantitative traits / 66

Second, the characteristics of polygene inheritance / 67

Section 2 Susceptibility and Threshold Models of Polygenic Genetic Diseases / 68

I. Genetic basis of polygenic inherited diseases / 68

Threshold model for susceptibility to polygenic genetic diseases / 69

Third, heritability / 70

Section 3 Genetic Characteristics and Recurrence Risk Prediction of Polygenic Genetic Diseases / 71

I. Genetic characteristics of polygenic inherited diseases / 71

Second, the risk prediction of recurrence of polygenic genetic diseases / 71

Section 4 Research Strategy for Polygenic Genetic Diseases / 75

I. Group Association Studies / 75

Second, the family chain analysis / 75

Third, other research methods / 76

Chapter 5 Chromosome Disease / 79

The first section of chromosome research methods / 80

I. Morphology and banding technology of chromosomes / 80

Advances in cytogenetics technology / 86

Variations and polymorphisms in the second chromosome / 88

I. Overview / 88

Differences in chromosome length / 89

Third, satellite / 90

Fourth, the secondary dent / 90

V. Polymorphisms in Q, G, and C bands / 90

Section III Chromosome Aberrations / 91

I. Abnormal number of chromosomes and its mechanism of production / 91

Chromosome structural aberrations / 94

Harm of chromosome abnormalities / 104

I. Natural abortion / 104

Second, birth defects / 104

Third, autosomal abnormality syndrome / 105

Fourth, chromosome microdeletion (duplicate) syndrome / 111

Five, genetic imprinting and chromosome disease / 112

Six, sex chromosome abnormality syndrome / 112

7.Estimation of the risk of recurrence of chromosome disease / 125

Chapter 6 Population Genetics / 130

The first section Hardy-Weinberg equilibrium law and its application / 131

I. Gene frequency and genotype frequency / 131

Hardy-Weinberg's law of equilibrium / 131

Application of Hardy-Weinberg balance / 132

Factors Affecting Hardy-Weinberg Equilibrium

I. Non-random matchmaking / 135

Choice / 135

Third, mutation / 136

Fourth, small groups / 136

Five, gene flow / 137

Section III Close Marriage / 137

First, the recent marriage coefficient / 137

Second, the dangers of close marriage / 140

Section 4 Genetic Load / 141

Chapter VII Molecular Diseases and Hereditary Metabolic Diseases / 144

Section I Hemoglobinopathy / 145

I. Molecular structure and developmental evolution of hemoglobin / 145

Hemoglobinopathy / 148

Section 2 Hereditary Metabolic Diseases / 155

First, the mechanism of hereditary metabolic defects / 155

Types of hereditary metabolic diseases / 156

Chapter VIII Oncology / 171

The first section of the cytological basis of tumors / 172

I. Abnormal number of tumor chromosomes / 172

Structural abnormalities of tumor chromosomes / 172

Telomeres and tumorigenesis / 173

The molecular basis of the second section of the tumor / 173

I. Oncogene / 173

Tumor suppressor gene / 179

Section III Evidence of Genetic Factors for Tumors / 183

I. Genetic phenomenon of tumors / 183

Second, hereditary tumor syndrome / 183

Third, hereditary tumors / 184

Genetic susceptibility to tumors / 184

The fourth section of the genetic theory of tumorigenesis / 185

First, the theory of monoclonal origin / 185

Second, the Knudson hypothesis / 185

The theory of multi-stage genetic events in tumorigenesis / 186

Section 5 Molecular Diagnosis and Gene Therapy of Tumors / 188

I. Molecular diagnosis of tumors / 188

Gene therapy for tumors / 188

Chapter IX Molecular Biology Technology / 192

The first section of recombinant DNA technology / 193

I. Two important enzymes of recombinant DNA / 193

Carrier / 196

DNA clone / 200

Section 2 Gene Library / 202

I. Establishment of a gene library / 202

Screening of gene libraries / 203

Section III Molecular Hybridization / 203

I. Probe / 204

Second, Southern blot hybridization / 207

Third, Northern blot hybridization / 209

Fourth, Western blot hybridization / 210

Five, dot hybridization / 211

Allele-specific oligonucleotide hybridization / 211

Section 4 Polymerase Chain Reaction / 211

First, the principle and steps of PCR / 21l

Application of PCR / 212

Advantages and disadvantages of PCR / 212

Fourth, PCR related technology / 213

Section 5 DNA Sequencing / 216

First, the chemical cracking method / 216

Second, dideoxy chain termination method / 217

Third, automatic DNA sequencing / 218

Section 6 Genetically Modified Animals / 219

Section 7 Biochip / 220

Chapter 10 Genetic Diagnosis and Gene Therapy of Genetic Diseases / 225

Section 1 Genetic Diagnosis / 226

I. Genetic diagnosis concepts and characteristics / 226

Common techniques for gene diagnosis

Third, the genetic diagnosis method / 228

Section 2 Gene Therapy / 233

I. Gene Therapy Methods / 233

Gene therapy strategies / 234

Third, the procedure of gene therapy / 236

Clinical application of human gene therapy / 241

V. Problems and Challenges of Gene Therapy / 243

Reference answer / 248

References / 251