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
收藏
页码：1047 / 1050
页数：4
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