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首页> 外文期刊>Advances in oto-rhino-laryngology >The genetics of otosclerosis: pedigree studies and linkage analysis.
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The genetics of otosclerosis: pedigree studies and linkage analysis.

机译：耳硬化症的遗传学：谱系研究和连锁分析。

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摘要

Otosclerosis is one of the commonest causes of hearing loss in adults. The hereditary nature of the disease has been acknowledged for over a century but the precise genetic basis of the disorder has as yet not been characterised. It is currently recognised that familial otosclerosis exhibits autosomal dominant inheritance with variable penetrance and expression. More recently, family linkage studies have identified three chromosomal regions that can be ascribed to this disorder: otosclerosis 1 on chromosome 15, otosclerosis 2 on chromosome 7 and a third locus on chromosome 6. The genes responsible for the disease within these regions remain to be defined. The work presented in this paper firstly examined the familial nature of the disease in a cohort of individuals that had undergone surgery for otosclerosis. Following detailed ascertainment, pedigrees were constructed for subsequent genetic analysis. The laboratory analysis included linkage analysis of the candidate region on the long arm of chromosome 15, linkage analysis of the aggrecan protein gene within the 15q region and linkage analysis to chromosome 7q. The pedigree studies confirmed the hereditary nature of otosclerosis and the recognised mode of inheritance. Linkage to the chromosome 15 locus, the candidate aggrecan gene and the chromosome 7 locus was excluded, confirming that otosclerosis exhibits locus heterogeneity.
机译：耳硬化症是成年人听力损失的最常见原因之一。该疾病的遗传性质已经有一个多世纪的历史了，但该疾病的确切遗传基础尚未得到鉴定。目前认识到家族性耳硬化症具有常染色体显性遗传，具有渗透性和表达可变。最近，家庭联系研究已经确定了可归因于该疾病的三个染色体区域：染色体15上的耳硬化1，染色体7上的耳硬化2和染色体6上的第三个基因座。定义。本文介绍的工作首先在一组接受耳硬化症手术的个体中检查了该疾病的家族性质。详细确定后，构建谱系以用于后续的遗传分析。实验室分析包括对15号染色体长臂上候选区域的连锁分析，对15q区域内聚集蛋白聚糖蛋白基因的连锁分析和对7q染色体的连锁分析。系谱研究证实了耳硬化症的遗传性质和公认的遗传方式。与染色体15位点，候选聚集蛋白聚糖基因和染色体7位点的连锁被排除在外，这证实耳硬化症具有位点异质性。

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