DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34
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DOI：
10.1038/sj.ejhg.5200780
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发表时间：
2002-03-01
影响因子：
5.2
通讯作者：
Petit, C
中科院分区：
文献类型：
--
作者：
Mustapha, M;Chouery, E;Petit, C
我们报告了一个新的基因座的鉴定负责常染色体隐性形式的听力损失（DFNB）分离在巴勒斯坦的近亲家庭从约旦。受影响的个体患有严重的语前感音神经性听力障碍。检测到与D9S1776周围多态性标记的遗传连锁，从而确定了一个新的耳聋位点DFNB31。该位点位于标记D9S289和D9S1881之间15 cm的9q32-34区域。以耳聋和旋转行为为特征的whirler （wi）小鼠突变体，映射到小鼠4号染色体上的相应区域，从而表明DFNB31和whirler可能是由同源基因缺陷引起的。
We report the identification of a novel locus responsible for an autosomal recessive form of hearing loss (DFNB) segregating in a Palestinian consanguineous family from Jordan. The affected individuals suffer from profound prelingual sensorineural hearing impairment. A genetic linkage with polymorphic markers surrounding D9S1776 was detected, thereby identifying a novel deafness locus, DFNB31. This locus could be assigned to a 9q32-34 region of 15 cm between markers D9S289 and D9S1881. The whirler (wi) mouse mutant, characterised by deafness and circling behaviour, maps to the corresponding region on the murine chromosome 4, thus suggesting that DFNB31 and whirler may result from orthologous gene defects.