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Chapter 7 Patterns of Single-Gene Inheritance 第7章 单基因遗传病 Single-gene traits caused by mutations in genes in the nuclear genome are often called mendelian. The single-gene diseases known so far are listed in Victor A. McKusicks classic reference, Mendelian Inheritance in Man, which has been indispensable to medical geneticists for decades. The online version of Mendelian Inheritance in Man (OMIM), available on the Internet through the National Library of Medicine, currently lists more than 3917 diseases with mendelian patterns of inheritance. Of these, 3310, or about 84%, are known to be caused by mutations in 1990 genes. Of the approximately 25,000 human genes, about 8% have already been directly implicated in human genetic disease. 核基因组基因的突变导致的单基因病通常称为孟德尔遗传病。目前已知的单基因病都总结在 Victor A. McKusick的经典著作《人类的孟德尔遗传》里，几十年来它一直被誉为医学遗传学的《圣经》。《人类的孟德尔遗传》的在线版本（OMIM）在美国国立医学图书馆的网站上可免费查阅。OMIM现包括3917多种孟德尔遗传病，其中3310种（约84%）疾病由1990个基因的突变引起。在人类大约25000个基因中，8%已经被明确与遗传病直接相关。 As a whole, single-gene disorders are often considered to be primarily but by no means exclusively disorders. Although by no means the major contributory factor in causing these common diseases in the population at large, the mendelian forms are important in individual patients because of their significance for the health of other family members and because of the availability of genetic testing and detailed management options for many of them. 总体来看，单基因病占了病种的大多数，但并非多发的疾病。虽然孟德尔遗传方式并非群体中常见病的主要影响因素，但对于患者个体而言却极其重要，因为这牵扯到其他家族成员的健康，可以通过基因诊断予以检测，选择更好的治疗方案。 OVERVIEW AND CONCEPTS（概述） Variation in Genes（基因的变异） Inherited variation in the genome is the cornerstone of human and medical genetics. A segment of DNA occupying a particular position or location on a chromosome is a locus. If the segment contains a gene, that DNA segment is the locus for that gene. Alternative variants of a gene are called alleles. For many genes, there is a single prevailing allele, present in the majority of individuals, that geneticists call the wild-t