Suppr超能文献

一种显性非综合征性感音神经性耳聋(DFNA11)的基因定位于包含隐性耳聋基因DFNB2的区域内。

A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene.

作者信息

Tamagawa Y, Kitamura K, Ishida T, Ishikawa K, Tanaka H, Tsuji S, Nishizawa M

机构信息

Department of Otolaryngology, Jichi Medical School, Tochigi, Japan.

出版信息

Hum Mol Genet. 1996 Jun;5(6):849-52. doi: 10.1093/hmg/5.6.849.

Abstract

Hereditary hearing loss is divided into two groups, syndromic and non-syndromic, the latter being more common and highly heterogeneous. Linkage analyses were performed on a Japanese family showing a dominant form of non-syndromic progressive sensorineural hearing loss. This gene (DFNA11) was localized within the region of chromosome 11q which contains the second gene for a recessive form of non-syndromic sensorineural hearing loss (DFNB2). Since it has been reported that another gene for dominant non-syndromic hearing loss (DFNA3) has been mapped to the same region as the first gene for recessive hearing loss (DFNB1), it is possible that different mutations in the DFNB2 gene may result in either dominant or recessive hearing loss.

摘要

遗传性听力损失分为两组,综合征性和非综合征性,后者更为常见且高度异质性。对一个表现为显性非综合征性进行性感觉神经性听力损失的日本家庭进行了连锁分析。该基因(DFNA11)定位于11号染色体区域内,该区域包含隐性非综合征性感觉神经性听力损失的第二个基因(DFNB2)。由于已经报道另一个显性非综合征性听力损失基因(DFNA3)已定位到与隐性听力损失的第一个基因(DFNB1)相同的区域,因此DFNB2基因中的不同突变可能导致显性或隐性听力损失。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验