1967
1968
Interpretation of the genetic code
Holley RW Khorana HG Nirenberg MW
1977, Sanger F DNA sequencing
198011
Sanger F
1979, Kan YW 简悦威 Gene diagnosis (RFLP)
alkaptonuria(AR)(尿黑酸尿）
1908, Hardy GH & Weinberg W
Law of Genetic Equilibrium
1909, Nilsson-Ehle H
Multifactorial inheritance
（多因子遗传）
1910, Morgan TH & his students
1953, Watson JD & Crick FHC DNA double helix structure 21962
DNA double helix structure
1952, Hsu TC 徐道觉 hypotonic shock
1956, Tjio JH（蒋有兴）; A.Levan
首次正确地确定了人类染色体数为46
Medical Genetics
1
❖ Few areas of science and medicine are seeing advances at the pace we are experiencing in the related fields of genetics and genomics.
--Thompson & Thompson Genetics in
Medicine - Elsevier 8th ed.,
Introduction
❖ The history of medical genetics
❖ The advances of research tools in medical genetic studies
genetic basis of disease gene regulation
❖ To discover and define the functional elements encoded in the human genome, including genes, transcripts, and transcriptional regulatory regions, together with their attendant chromatin states and DNA methylation patterns
Medical Genetics is the application of genetics to medical practice. Diseases — Inheritance
Clinical Genetics Diagnosis Prevention Counseling Treatment
Laboratory in China for 1% Sequencing
Post-Genome Project
functional genomics（功能基因组学） comparative genomics（比较基因组学） environmental genomics（环境基因组学） Proteomics（蛋白质组学） model-organism genomics(模式生物基因组学） ………
The History of Medical Genetics
1866年，奥地利遗传学家G.T.Mendel根据他坚持10年的豌豆杂交试 验，提出了分离定律，自由组合定律等。这些工作的重要性在于辩明了 遗传不是性状本身，而是决定性状的遗传因子。
9
1902, Garrod AE
Inborn errors of metabolism: （先天性代谢缺陷）
❖ Application of medical genetics to Personalized Health Care
Genetics（遗传学）
Heredity and Variation— all living organisms
heredif Gene
国际人类基因组单体型图计划
Laboratory in China for 10% work
ENCODE PROJECT
Encyclopedia Of DNA Elements
❖ Identify all candidate functional elements in the genome
❖ Make resource freely available to community for use in studies of:
Law of Linkage and Crossing Over
1933
Theory of Gene (1926)
1944, Avery OT, et al DNA is the genetic material
1949,Pauling L
Sickle cell disease; molecular disease
Sickle cell disease, Thalassemia
1984 , Mullis F
1993
The Polymerase Chain Reaction (PCR)
1991, Anderson WF Gene therapy
ADA（腺苷酸脱氨酶）基因缺 陷
导致严重免疫缺损的4岁女孩
Human Genome Project
➢The term ‘genetics’ was coined by W. Batesmanin in 1905. ➢It is derived from the Greek word ‘genesis’ meaning grow into
or to become.
Human Genetics
Medical Genetics
2002.10～2005.10
➢To determine the common patterns of DNA sequence variation in the human genome and to make this information freely available in the public domain.