《医学遗传学 Medical Genetics》课程PPT教学课件（英文版）Introduction

Medical, Genetics Introduction

Introduction Medical Genetics

Principles of Medical Genetics, 2nd Edition by TD Gelehrter, FS. Collins and D. Ginsburg Instant notes in genetics by PC. Winter, GI. Hickey and HL. Fletcher Instant Notes in molecular biology by Pc Turner, AG. McLennan Mendelian Inheritance in Man(MIM by VA McKusick

Principles of Medical Genetics, 2nd Edition by TD. Gelehrter, FS. Collins and D. Ginsburg Instant Notes in Genetics, by PC. Winter, GI. Hickey and HL. Fletcher Instant Notes in Molecular Biology, by PC. Turner，AG. McLennan Mendelian Inheritance in Man (MIM), by VA. McKusick

Medical genetics Medical Genetics is the application of genetics to medical practice. Genetic diseases are the diseases which are due to altered genetic materials(genes or chromosomes)

Medical Genetics is the application of genetics to medical practice. Medical Genetics Genetic diseases are the diseases which are due to altered genetic materials (genes or chromosomes)

Nature and nurture 12 4

Nature and Nurture 1 2 3 4

Several misunderstand fAmilial disease is genetic disease O Congenital disease is genetic disease

Several Misunderstand  “Familial disease” is genetic disease  “Congenital disease” is genetic disease

Major Types of Genetic Diseases X Monogenic Disease X Polygenic disease X Chromosome disease X Somatic cell genetic diseases

Major Types of Genetic Diseases  Monogenic Disease  Polygenic Disease  Chromosome Disease  Somatic Cell Genetic Diseases

the hazard of genetic Disease 15 million neonates 1.3 birth defect congenital malformation

the Hazard of Genetic Disease 15 million neonates 1.3% birth defect & congenital malformation

the hazard of genetic Disease 15 million neonates 70%~80%(130-150 thousands) relate to genetic factor 15%spontaneous abortion

70%～80% (130~150 thousands) relate to genetic factor the Hazard of Genetic Disease 15 million neonates 15% spontaneous abortion

the hazard of genetic Disease 15 million neonates 70%~80%(130~150 thousands) relate to genetic factor 50%(1.12 million relate to chromosomal aberration

70%~80% (130~150 thousands) relate to genetic factor the Hazard of Genetic Disease 15 million neonates 50% (1.12 million)relate to chromosomal aberration

the hazard of genetic Disease In the crowd. monogenic disease 3%~5% polygenic disease 15%-20% chromosome disease The first or the second in the death reason: Malignant tumor(somatic cell genetic disease 2.2% mental retardation more than 1 3 relate to genetic factor

In the crowd, monogenic disease 3%~5% polygenic disease 15%~20% chromosome disease 1% The first or the second in the death reason: Malignant tumor (somatic cell genetic disease) 2.2% mental retardation more than 1/3 relate to genetic factor the Hazard of Genetic Disease