第七章 多基因遗传病15-10-13课件.pptxVIP

第七章 多基因遗传病 Polygenic inheritance disorders Multifactorial inheritance Complex disorders Multifactorial inheritance l 多基因遗传的阈值模型 l 多基因病的遗传特点和再显风 险的估计 l 多基因遗传病的研究方法 Definition of MF l遗传因素与环境因素共同作用。其中 遗传因素由多个基因决定，环境因素 为该病的诱发因素。 l Multifactorial or polygenic inherited disorders result from a combination of genetic and environmental factors. Features of polygenes l等显性(co-dominant) l不连锁性(non-linkage) l微效基因(minor gene) l累加效应(additive effect) l主基因(major gene)效应 Classification of MF l Common diseases (常见病) l diabetes mellitus, hypertension, schizophrenia, peptic ulcer, asthma … l Congenital malformations (先天畸形) l cleft lip, cleft palate, neural tube defects, congenital heart disease, anencephaly … 中国心血管病2009报告 中国心血管病人至少有2.3亿，高血压患 者两亿，脑卒中患者700万，心肌梗死患 者200万，心力衰竭患者420万，先心病 患者200万，平均每10个成年人中就有两 个人患心血管病。该报告还预估我国每 年心血管病死亡人数大约在300万人，平 均每10秒就有1人死于心血管病。 Congenital malformation Qualitative traits (质量性状) ● 属交替性状变异，呈双峰或三峰性，表现 为有或无，符合Mendel 遗传规律，子代发 生率为1/2或1/4。 Quantitative traits (数量性状) ● 属连续性状变异，呈 正态分布，单峰性， 不符合Mendel遗传 规律，子代发生率为 1%～10%。 Pedigree of a family with retinitis pigmentosa (色素沉着 性视网膜炎) due to digenic inheritance. Peripherin(外 周蛋白) locus at first line. ROM1 locus at second line. Filled symbols are affected.+: normal; mut: mutant allele. +/+ +/+ +/+ +/mut +/+ +/+ +/mut +/mut +/+ +/mut +/+ +/mut +/mut +/mut +/+ +/mut +/+ +/mut +/mut +/+ +/+ +/+ Genotype: peripherin:+ or mut ROM1:+ or mut +/mut +/mut +/+ +/+ +/mut +/mut +/+ +/+ +/mut +/mut +/mut +/+ +/mut +/mut +/mut +/mut +/mut +/mut +/mut +/mut +/mut +/mut +/mut +/+ +/+ +/mut +/mut +/+ +/+ +/mut +/mut +/+ +/+ +/+ Hirschsprungs disease, or congenital aganglionic megacolon. Trigenic or more genic inheritance? Loci showing allele sharing in 67 sibpairs