A HUMAN RECESSIVE NEUROSENSORY NONSYNDROMIC HEARING IMPAIRMENT LOCUS IS A POTENTIAL HOMOLOG OF THE MURINE DEAFNESS (DN) LOCUS

被引：55

作者：

JAIN, PK

FUKUSHIMA, K

DESHMUKH, D

RAMESH, A

THOMAS, E

LALWANI, AK

KUMAR, S

PLOPLIS, B

SKARKA, H

SRISAILAPATHY, CRS

WAYNE, S

ZBAR, RIS

VERMAN, EC

SMITH, RJH

WILCOX, ER

机构：

[1] NIDOCD, GENET MOLEC LAB, ROCKVILLE, MD 20850 USA

[2] UNIV IOWA, DEPT OTOLARYNGOL, MOLEC OTOLARYNGOL RES LABS, IOWA CITY, IA 52242 USA

[3] ROTARY DEF SCH, KOLHAPUR 416115, MAHARASHTRA, INDIA

[4] UNIV MADRAS, DEPT GENET, MADRAS, TAMIL NADU, INDIA

[5] ALL INDIA INST MED SCI, NEW DELHI 110029, INDIA

[6] EPSTEIN LABS, MOLEC ONCOL LAB, SAN FRANCISCO, CA 94143 USA

来源：

HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 12期

关键词：

D O I：

10.1093/hmg/4.12.2391

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：

A locus for recessive neurosensory nonsyndromic hearing impairment maps to chromosome 9q13-q21 in two regionally separate consanguineous families from India. Each family demonstrates a LOD score greater than 4.5 to this region, D9S15, tightly linked to the Friedreich's ataxia locus, a region that has been defined with over 1 Mb of YAC contig information and several expressed sequences, is one of the flanking markers, In mice, the deafness (dn) locus maps to mouse chromosome 19 and flanking loci are syntenic to human chromosome 9q11-q21. The dn mouse is a potential model for the hearing impairment found in both these families.

引用

页码：2391 / 2394

页数：4

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