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Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26

机译:映射一个新的常染色体显性非综合征性听力损失基因座(DFNA30)到染色体15q25-26

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摘要

Hearing impairment is the most common inherited human sensory defect. Nonsyndromic Hearing Impairment (NSHI) is the most genetically heterogeneous trait known. Over 70 loci have been mapped and a total of 19 genes have been identified. We report here a novel locus (DFNA 30) for autosomal dominant NSHI that we mapped to chromosome 15q25-26 in an Italian four-generation family. The haplotype analysis has identified a critical interval of 18 cM between markers D15S151 and D15S130. This region does not overlap with DFNB16 locus but partially coincides with the otosclerosis (OTS) locus. Localisation of the locus DFNA30 is a first step towards the identification of the gene.
机译:听力障碍是人类最普遍遗传的感觉缺陷。非综合征性听力障碍(NSHI)是已知的遗传上最异质的性状。已经绘制了70多个基因座,共鉴定出19个基因。我们在这里报告了一个常染色体显性NSHI的新基因座(DFNA 30),我们将其定位于意大利四代家庭的染色体15q25-26。单倍型分析已鉴定出标记D15S151和D15S130之间的关键间隔为18 cM。该区域与DFNB16基因座不重叠,但与耳硬化症(OTS)基因座部分重合。 DFNA30基因座的定位是鉴定基因的第一步。

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