【摘要】 应用分离分析及血缘分析的方法分析了271名聋哑学校学生的遗传异质性。两种方法均揭示先天性聋哑中有散发病例,经两种方法估计出的散发病例的比例数分别为0.127和0.165。先天性聋哑主要呈常染色体隐性遗传,且涉及多个不同的基因位点(至少43个),从而部分解释了大部分聋哑人相互婚配其后代不出现患者的现象。近亲结婚可使隐性遗传型先天性聋哑的发病率增高15倍。更多还原

【Abstract】 The methods of segregation and consanguinity analysis wereemployed to study the genetic heterogeneity of 271 cases of congenital deafnessascertained through the schools for deaf children.After the exclusion of knownexgenous factors,the fraction of sporadic cases from normal by normal matingsare 0.127 and 0.165 revealed by segregation and consanguinity analysis res-pectively.Segregation ratios are compatible with complete penetrant autosomalrecessive inheritance in both consanguineous marriage and multiplex families.No less than 89% of the hereditary caSeS are autosomal recessively inherited.The panmictic and inbred loads are 0.000415 and 0.1336 respectively,indicat-ing the least number of the detrimental genomic loci 43.The incidence amongthe offsprings of the first cousin marriages would be 16 times as high as inthe general population.更多还原