在巴厘岛一个与世隔绝的村庄本卡拉，先天性非综合征性常染色体隐性耳聋。
Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.
作者信息
Winata S, Arhya I N, Moeljopawiro S, Hinnant J T, Liang Y, Friedman T B, Asher J H
机构信息
Department of Microscopic Anatomy, Faculty of Medicine, Udayana University, Denpasar, Bali, Indonesia.
出版信息
J Med Genet. 1995 May;32(5):336-43. doi: 10.1136/jmg.32.5.336.
Abstract
Bengkala is an Indonesian village located on the north shore of Bali that has existed for over 700 years. Currently, 2.2% of the 2185 people in this village have profound congenital deafness. In response to the high incidence of deafness, the people of Bengkala have developed a village specific sign language which is used by many of the hearing and deaf people. Deafness in Bengkala is congenital, sensorineural, non-syndromal, and caused by a fully penetrant autosomal recessive mutation at the DFNB3 locus. The frequency of the DFNB3 mutation is estimated to be 9.4% among hearing people who have a 17.2% chance of being heterozygous for DFNB3.
摘要
本卡拉是印度尼西亚的一个村庄，位于巴厘岛北岸，已有700多年的历史。目前，这个村庄2185人中2.2%患有严重先天性耳聋。为应对耳聋的高发病率，本卡拉人发展出了一种特定的乡村手语，许多听力正常和失聪的人都使用这种手语。本卡拉的耳聋是先天性、感音神经性、非综合征性的，由DFNB3位点的一个完全显性常染色体隐性突变引起。在听力正常的人群中，DFNB3突变的频率估计为9.4%，他们携带DFNB3杂合基因的几率为17.2%。
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