A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval.
A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval.
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负责显性神经感觉非综合征性耳聋的基因映射到 NSRD1 隐性耳聋基因间隔。
DOI：
10.1093/hmg/3.12.2219
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发表时间：
1994
影响因子：
3.5
通讯作者：
C. Petit
中科院分区：
文献类型：
--
作者：
H. Chaib;G. Lina;P. Guilford;H. Plauchu;J. Levilliers;A. Morgon;C. Petit
常染色体、神经感觉性、隐性耳聋的基因的首次定位最近将NSRD 1分配到人类13号染色体的着丝粒区域。我们现在报告的一个主要形式的感觉神经性耳聋发现在一个家庭的法国血统。耳聋是中度至重度的，在语前发病，主要影响高频。通过连锁分析发现，导致这种耳聋的基因与NSRD 1定位在13号染色体的同一区域。多点分析得到最大lod得分为4.66，最可能的位置接近基因座D13S175。这表明NSRD1的不同突变可能导致显性和隐性感觉神经性耳聋。
The first localization of a gene responsible for autosomal, neurosensory, recessive deafness recently assigned NSRD1 to the centromeric region of human chromosome 13. We now report on a dominant form of neurosensory deafness found in a family of French origin. The deafness is moderate to severe, has a prelingual onset and affects predominantly the high frequencies. The gene responsible for this form of deafness was found by linkage analysis to map to the same region of chromosome 13 as NSRD1. A multipoint analysis gave a maximum lod score of 4.66 with a most likely location close to locus D13S175. This suggests that different mutations in NSRD1 may cause both dominant and recessive neurosensory deafness.