Chapter 9 Genetic Variation in Individuals and Populations Mutation and Polymorphism精品PPT.ppt

The Rh System（Rh血型） The name Rh comes from Rhesus monkeys that were used in the experiments that led to the discovery of the system. In simplest terms, the population is separated into Rh-positive individuals, who express, on their red blood cells, the antigen Rh D, a polypeptide encoded by a gene (RHD) on chromosome 1, and Rh-negative individuals, who do not express this antigen. The Rh-negative phenotype usually originates from homozygosity for a nonfunctional allele of the RHD gene. The frequency of Rh-negative individuals varies enormously in different ethnic groups. For example, 17% of whites and 7% of African Americans are Rh-negative, whereas the frequency among Japanese is 0.5%. 之所以称为Rh，是因为在恒河猴 (Rhesus Monkey) 中首次发现了这种血型。简言之，人类分为Rh阳性个体和Rh阴性个体，阳性个体的红细胞上有Rh D抗原，是由1号染色体上RHD基因编码的多肽链；阴性个体没有抗原，通常是RHD无功能等位基因的纯合子。各种种族或民族的Rh阴性个体比例相差很大。如白人为17%，非裔美国人为7%，而日本人只有0.5%。 Hemolytic Disease of the Newborn（新生儿溶血症） Clinically, the chief significance of the Rh system is that Rh-negative persons can readily form anti-Rh antibodies after exposure to Rh-positive red blood cells. This is especially a problem when an Rh-negative pregnant woman is carrying an Rh-positive fetus. Normally during pregnancy, small amounts of fetal blood cross the placental barrier and reach the maternal blood stream. If the mother is Rh-negative and the fetus Rh-positive, the mother will form antibodies that return to the fetal circulation and damage the fetal red blood cells, causing hemolytic disease of the newborn with consequences that can be severe if not treated. Rh阴性个体在接触Rh阳性血之后，会形成抗Rh抗体，可能产生临床后果。尤其当Rh阴性女性孕育一个Rh阳性胎儿时。在正常妊娠中，少量的胎儿血细胞可透过胎盘屏障，进入母体的血液循环系统。若母体为Rh阴性，胎儿为Rh阳性，则母体形成的抗Rh抗体会重新进入胎儿循环，破坏胎儿的红细胞，造成新生儿溶血症。若不及时处理，后果将很严重。 * Chapter 9 Genetic Variation in Individuals and Populations: Mutation and Polymorphism 第9章 个体和群体的遗传变异： 突变及多态性 This chapter is one of several in which we explore the nature of genetically determined differences among individuals. The sequence of nuclear DNA is nearly 99.9% ident