A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13

被引：95

作者：

Manolis, EN

Yandavi, N

Nadol, JB

Eavey, RD

McKenna, M

Rosenbaum, S

Khetarpal, U

Halpin, C

Merchant, SN

Duyk, GM

MacRae, C

Seidman, CE

Seidman, JG

机构：

[1] HARVARD UNIV,SCH MED,DEPT GENET,BOSTON,MA 02115

[2] HARVARD UNIV,SCH MED,HOWARD HUGHES MED INST,BOSTON,MA 02115

[3] HARVARD UNIV,SCH MED,MASSACHUSETTS EYE & EAR INFIRM & OTOL & LARYNGOL,DEPT OTOLARYNGOL,BOSTON,MA 02114

[4] BRIGHAM & WOMENS HOSP,DEPT MED,BOSTON,MA 02115

[5] BRIGHAM & WOMENS HOSP,HOWARD HUGHES MED INST,BOSTON,MA 02115

[6] HARVARD UNIV,SCH MED,BOSTON,MA 02115

[7] SCH MED,DEPT PEDIAT,BOSTON,MA 02115

来源：

HUMAN MOLECULAR GENETICS | 1996年 / 5卷 / 07期

关键词：

D O I：

10.1093/hmg/5.7.1047

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

We report a novel locus responsible for postlingual progressive sensorineural hearing loss (designated DFNA9) that maps to chromosome 14q12-13. A large kindred with autosomal dominant transmission of non-syndromic hearing loss was clinically studied. Hearing in affected individuals deteriorated at similar to 20 years of age and progressed to anacusis in the fifth decade. A random genome-wide search using polymorphic short tandem repeats demonstrated linkage with D14S121 (maximum two point LOD score = 6.19, theta = 0). Haplotype analysis of recombination events defined a 9 cM disease interval, between D14S252 and D14S49.

引用

页码：1047 / 1050

页数：4

共 16 条

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