3 Atypical Mendelian Inheritance-第1部分-上传课件.pptVIP

Digenic inheritance 双基因遗传 Triallelic inheritance 三等位基因遗传 Bardet–Biedl syndrome (MIM 209900). This disorder is characterized by obesity, retinitis pigmentosum, and renal anomalies, among other features, and is inherited as an autosomal recessive trait. Mitochondrial inheritance 线粒体遗传 Pedigree of a mitochondrially-determined condition Consequences of the mitochondrial bottleneck Buccal tissue Blood Conditions caused by mtDNA mutations are extremely variable Conditions caused by mtDNA mutations are extremely variable Mitochondria are not precisely partitioned between daughter cells at mitosis. In a heteroplasmic person the proportion of mutant mitochondrial genomes can vary between tissues and over time. * * * * * * * * * * * * * * * * * * * * Atypical Mendelian Inheritance-1 Department of Medical Genetics Yaping Liu (刘雅萍) ypliu@ibms.pumc.edu.cn Key Topics Pseudoautosomal inheritance Pseudodomiant inheritance X-linked dominant inheritance with male lethality Mosaicism Genetic anticipation Uniparental disomy Imprinting disorders Digenic inheritance Triallelic inheritance Mitochondrial inheritance Modifier genes Pseudodominant inheritance in hemochromatosis (carrier freq is as high as 1/10 in individuals of Celtic ancestry). A heterozygous male and homozygous female transmit a recessive disorder to their daughter, giving the appearance of dominant transmission. This is most likely to occur when the mutant allele is common in the population. Aa Aa aa aa Pseudodominant 假显性 AR: Pseudodominant inheritance X-linked dominant inheritance with male lethality. Pedigree illustrating X-linked dominant transmission. Only females are affected. Males who inherit the mutant allele a die in utero. a a Aa Aa aa A A X-linked dominant inheritance with male lethality X连锁显性遗传（男性致死型） Pedigree of a pseudoautosomal condition. The allele causing this dominant condition is on the Y chromosome in affected males marked Y, but on the X chromosome in all other affected individuals. The thre