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本文主要讨论并分析了CHH,慢性脊肌萎缩、成骨不全、共济失调毛细血管扩张症等染色体隐性遗传病中产生低分离率的可能因素及其机制。常染色体隐性遗传病低分离率可能与双亲行为、观察误差、生物因素等有关。对于常染色体隐性遗传病的低分离率,一般认为有以下几方面的机制:不外显,在一些纯合个体中,外显率降低;早期致死率,纯合致死基因与CHH基因位点紧密连锁;配子选择;单亲二体性;由于缺失引起的单体性;遗传异质性。此外,一些病例是由于新的显性突变所致。
This article discusses and analyzes CHH, chronic atrophy of the spine, osteogenesis imperfecta, ataxia telangiectasia and other chromosomal recessive genetic diseases in the production of low-resolution possible factors and their mechanisms. The low rate of autosomal recessive genetic disease may be related to parental behavior, observation errors, biological factors and so on. For autosomal recessive disease, low isolation rate, generally considered to have the following mechanisms: no explicit, in some homozygous individuals, decreased penetrance; early lethality, homozygous lethal gene and CHH locus Closely linked; Gametes selection; Biparental sex; Monosomy due to loss; Genetic heterogeneity. In addition, some cases are due to a new dominant mutation.