A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22
A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22
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DOI：
10.1136/jmg.34.12.1015
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发表时间：
1997-12-01
影响因子：
4
通讯作者：
Mueller, RF
中科院分区：
文献类型：
--
作者：
Campbell, DA;McHale, DP;Mueller, RF
非综合征性隐性耳聋 (NSRD) 是人类遗传性耳聋或听力障碍的最常见形式。 NSRD 具有遗传异质性，据估计可能涉及多达 35 个不同的基因座。我们报告了来自巴基斯坦和中东的三个近亲家庭中常染色体隐性遗传非综合征性耳聋（DFNB16）的新基因座的定位。使用多点分析 (HOMOZ/MAPMAKER)，D15S1039-D15S123 区间的最大组合 lod 得分为 6.5。重组事件和单倍型分析定义了染色体 15q15-q21 上标记 D15S1039 和 D15S155 之间的 12-14 cM 关键区域。
Non-syndromal, recessive deafness (NSRD) is the most common form of inherited deafness or hearing impairment in humans. NSRD is genetically heterogeneous and it has been estimated that as many as 35 different loci may be involved. We report the mapping of a novel locus for autosomal recessive, non-syndromal deafness (DFNB16) in three consanguineous families originating from Pakistan and the Middle East. Using multipoint analysis (HOMOZ/MAPMAKER) a maximum combined lod score of 6.5 was obtained for the interval D15S1039-D15S123. Recombination events and haplotype analysis define a 12-14 cM critical region between the markers D15S1039 and D15S155 on chromosome 15q15-q21.