A new gene locus for an autosomal-dominant non-syndromic hearing impairment (DFNA 33) is situated on chromosome 13q34-qter

被引：9
|
作者：
Boensch, D. [2 ]
Schmidt, C. -M. [1 ]
Scheer, P. [1 ]
Bohlender, J. [1 ]
Neumann, C. [3 ]
Zehnhoff-Dinnesen, A. Am [1 ]
Deufel, T. [3 ]
机构：
[1] Univ Klinikum Munster, Klin & Poliklin Phoniatrie & Padaudiol, D-48129 Munster, Germany
[2] Kliniken Essen Mitte, Abt Psychiat Psychotherapie & Suchtmed, Essen, Germany
[3] Univ Jena, Klin Chem Abt, D-6900 Jena, Germany
来源：
HNO | 2009年 / 57卷 / 04期
关键词：
Hereditary hearing impairment; Linkage analysis; Chromosome; 13q34-qter; DFNA33; Non-syndromic hearing impairment; LINKAGE ANALYSIS; MUTATIONS; DEAFNESS;
D O I：
10.1007/s00106-008-1832-9
中图分类号：
R76 [耳鼻咽喉科学];
学科分类号：
100213 ;
摘要：
By investigation of a German family pedigree with non-syndromic hearing impairment of early onset and autosomal-dominant mode of inheritance, linkage to known DFNA loci was excluded, and the existence of a new locus (DFNA33) was revealed. In a subsequent genomic scan the phenotype was mapped to a 6 cM interval on chromosome 13q34-qter. A maximum two-point lod score of 2.96 was obtained for the marker D13S285 with a maximum lod score in the multipoint analysis of 3.28 at 124.56 cM.
引用
收藏
页码：371 / 376
页数：6
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