上海聋哑症的患病率及遗传学方面
Prevalence and genetic aspects of deaf mutism in Shanghai.
作者信息
Hu D N, Qiu W Q, Wu B T, Fang L Z, Zhou F, Gu Y P, Zhang Q H, Yan J H
机构信息
Department of Medical Genetics, Tiedao Medical College, Shanghai, China.
出版信息
J Med Genet. 1987 Oct;24(10):589-92. doi: 10.1136/jmg.24.10.589.
Two hundred and eighty-five cases of congenital deaf mutism were ascertained in a population of 483,611 in Zhabei District in Shanghai. The prevalence was 0.059% (1:1697). Inherited cases accounted for 84.83% of all cases. The mode of inheritance was autosomal recessive with complete penetrance and heterogeneity (consisting of at least five different loci). The fitness was 77.63%, the coefficient of selection was 0.2237, the mutation rate was 1.119 x 10(-4) mutation/gamete, and no heterozygote advantage was proven.
在上海闸北区483,611人的人群中，确诊了285例先天性聋哑病例。患病率为0.059%（1:1697）。遗传病例占所有病例的84.83%。遗传方式为常染色体隐性遗传，具有完全外显率和异质性（至少由五个不同位点组成）。适合度为77.63%，选择系数为0.2237，突变率为1.119×10⁻⁴突变/配子，未证实存在杂合子优势。
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