CONGENITAL NON-SYNDROMAL AUTOSOMAL RECESSIVE DEAFNESS IN BENGKALA, AN ISOLATED BALINESE VILLAGE

被引：29

作者：

WINATA, S

ARHYA, IN

MOELJOPAWIRO, S

HINNANT, JT

LIANG, Y

FRIEDMAN, TB

ASHER, JH

机构：

[1] MICHIGAN STATE UNIV,GRAD PROGRAM GENET,E LANSING,MI 48824

[2] MICHIGAN STATE UNIV,DEPT ZOOL,E LANSING,MI 48824

[3] UDAYANA UNIV,FAC MED,DEPT BIOCHEM,DENPASAR,INDONESIA

[4] UDAYANA UNIV,FAC MED,DEPT MICROSCOP ANAT,DENPASAR,INDONESIA

[5] GADJAH MADA UNIV,FAC BIOL,BIOL LAB,YOGYAKARTA,INDONESIA

[6] GADJAH MADA UNIV,INTER UNIV CTR BIOTECHNOL,YOGYAKARTA,INDONESIA

来源：

JOURNAL OF MEDICAL GENETICS | 1995年 / 32卷 / 05期

关键词：

D O I：

10.1136/jmg.32.5.336

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：336 / 343

页数：8

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