Wilcox S A, Osborn A H, Allen-Powell D R, Maw M A, Dahl H H, Gardner R J
Murdoch Institute, Royal Children's Hospital, Melbourne, Australia.
J Med Genet. 1999 May;36(5):383-5.
Mutations in the connexin26 gene are the basis of much autosomal recessive sensorineural deafness. There is a high frequency of mutant alleles, largely accounted for by one common mutation, 35delG. We have studied a group of families, who had been brought together through marriages between Deaf persons, in which there are more than 30 Deaf people in four generations. We show that many of the several cases of deafness are the result of 35delG homozygosity or 35delG/Q57X compound heterozygosity at the connexin26 locus. A considerable range of audiographic phenotypes was observed. The combined effects of a high population frequency of mutant alleles, and of positive assortative marriage among the Deaf, led to an infrequently observed recessive pedigree pattern.
连接蛋白26基因的突变是许多常染色体隐性遗传性感觉神经性耳聋的病因。突变等位基因的频率很高，主要是由一个常见突变即35delG引起的。我们研究了一组因聋人之间通婚而聚集在一起的家族，其中四代内有30多名聋人。我们发现，连接蛋白26位点上的耳聋病例中有许多是35delG纯合子或35delG/Q57X复合杂合子导致的。观察到相当广泛的听力图型。突变等位基因在人群中的高频率以及聋人之间的正向选型婚配共同作用，导致了一种罕见的隐性谱系模式。
