论文部分内容阅读
采用本室编写的计算机程序对山东省群体调查中发现的283个单纯性先天性聋哑家系进行了分离分析和血缘分析。结果表明,先天性聋哑有广泛的遗传异质性:夫妇双方均正常(U×U)主要为常染色体隐性遗传,有散发病例,用分离分析和血缘分析估计的散发病例比例分别为0.177和0.24,夫妇一方患病(U×A)和U×U(f)(夫妇双方均正常,但一方的父母或同胞患病)主要为常染色体显性遗传,外显不全,外显率为70%～75%,AXA(夫妇双方均患病)既有常染色体显性遗传又有常染色体隐性遗传。在整个样本中,散发病例占15.64%,常染色体隐性遗传占72.70%,常染色体显性遗传占11.66%。
Using the computer program written in this room, 283 simple congenital deaf-mute pedigrees found in the population survey of Shandong Province were isolated and analyzed. The results showed that congenital deafness has a wide range of genetic heterogeneity: the two sides of the couple were normal (U × U) are autosomal recessive, with sporadic cases, with analysis of separation and analysis of blood distribution estimated cases were 0.177 And 0.24, respectively. The prevalence of U × A and U × U (f) (both couples were normal, but the parents or siblings of one side were affected) were mainly autosomal dominant with incomplete appearance and penetrance 70% to 75%, AXA (both husband and wife are sick) both autosomal dominant and autosomal recessive inheritance. In the whole sample, sporadic cases accounted for 15.64%, autosomal recessive accounted for 72.70%, autosomal dominant 11.66%.