一个导致显性非综合征性耳聋的基因与19号染色体的连锁关系。
Linkage of a gene for dominant non-syndromic deafness to chromosome 19.
作者信息
Chen A H, Ni L, Fukushima K, Marietta J, O'Neill M, Coucke P, Willems P, Smith R J
机构信息
Department of Otolaryngology, University of Iowa, Iowa City 52242, USA.
出版信息
Hum Mol Genet. 1995 Jun;4(6):1073-6. doi: 10.1093/hmg/4.6.1073.
PMID:7655461
Abstract
Inherited hearing impairment can occur either in the presence of other clinical features (syndromic hearing loss, SHL) or in isolation (non-syndromic hearing loss, NSHL). The latter is more common and is highly heterogeneous. To date, six NSHL loci have been mapped. We report the identification of a seventh locus (DFNA4) on chromosome 19q13 and suggest DM kinase as a possible candidate gene.
摘要
遗传性听力障碍可伴有其他临床特征（综合征性听力损失，SHL）或单独出现（非综合征性听力损失，NSHL）。后者更为常见且具有高度异质性。迄今为止，已定位了6个NSHL基因座。我们报告在19号染色体q13上鉴定出第七个基因座（DFNA4），并提出DM激酶作为一个可能的候选基因。
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