医学遗传学绪论 2.pptVIP

Human genome project Collective name (Human Genome Initiative ) for several projects begun in 1986 to create an ordered set of DNA segments from known chromosomal locations, develop new computational methods for analyzing genetic map and DNA sequence data, and develop new techniques and instruments for detecting and analyzing DNA. Begun formally in 1990, the U.S. Human Genome Project was a 13-year effort coordinated by the U.S. Department of Energy and the National Institutes of Health. The project originally was planned to last 15 years, but rapid technological advances accelerated the completion date to 2003. identify all the approximately 20,000-25,000 genes in human DNA, determine the sequences of the 3 billion chemical base pairs that make up human DNA, store this information in databases, improve tools for data analysis, transfer related technologies to the private sector, and address the ethical, legal, and social issues (ELSI) that may arise from the project. structural genomics functional genomics Human genome project A structural genomics Genetic map Physical map Transcription map Sequence map 遗传图（genetic map）又称连锁图（linkage map）：以具有遗传多态性的遗传标记为位标，以遗传学距离为图距的基因组图。 遗传学距离以厘摩（centi-Morgan,cM）表示。连锁的遗传标志之间的重组频率为1% 时，它们的相对距离为1cM， 相当于106 bp(1Mb)。 遗传多态性标记为：RFLP、MS/STR、SNP。 a b c 当 ab + bc = ac 时 三点在一条直线上 红眼V（Vermilion eyes）--a 翅无横脉 Cv（crossveinless）--b 截翅Ct（cut, or snipped wing edges）--c 结 果 表型 实得数 比例(%) 重组发生位点 a-b a-c c-b a + + 580 80.9 + b c 592 a b c 45 5.9 √ √ + + + 40 a b + 89 12.6 √ √ + + c 94 a + c 3 0.6 √ √ + b + 5 合计 1448 100 18.