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DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34

被引：28
作者：
Mustapha, M
Chouery, E
Chardenoux, S
Naboulsi, M
Paronnaud, J
Lemainque, A
Mégarbané, A
Loiselet, J
Weil, D
Lathrop, M
Petit, C
机构：
[1] Inst Pasteur, Unite Genet Deficits Sensoriels, CNRS, URA 1968, F-75724 Paris 15, France
[2] Univ St Joseph, Fac Med, Mol Biol Lab, Beirut, Lebanon
[3] Ibn Al Haytham Hosp, ORL, Amman, Jordan
[4] Ctr Natl Genotypage, F-91057 Evry, France
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2002年 / 10卷 / 03期
关键词：
human deafness; homozygosity mapping; gene localisation; chromosome; 9;
D O I：
10.1038/sj.ejhg.5200780
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 the identification of a novel locus responsible for an autosomal recessive form of hearing loss (DFNB) segregating in a Palestinian consanguineous family from Jordan. The affected individuals suffer from profound prelingual sensorineural hearing impairment. A genetic linkage with polymorphic markers surrounding D9S1776 was detected, thereby identifying a novel deafness locus, DFNB31. This locus could be assigned to a 9q32-34 region of 15 cm between markers D9S289 and D9S1881. The whirler (wi) mouse mutant, characterised by deafness and circling behaviour, maps to the corresponding region on the murine chromosome 4, thus suggesting that DFNB31 and whirler may result from orthologous gene defects.
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收藏
页码：210 / 212
页数：3
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