CONSANGUINEOUS NUCLEAR FAMILIES USED TO IDENTIFY A NEW LOCUS FOR RECESSIVE NON-SYNDROMIC HEARING-LOSS ON 14Q

被引：49
作者：
FUKUSHIMA, K
RAMESH, A
SRISAILAPATHY, CRS
NI, L
CHEN, A
ONEILL, M
VANCAMP, G
COUCKE, P
SMITH, SD
KENYON, JB
JAIN, P
WILCOX, ER
ZBAR, RIS
SMITH, RJH
机构：
[1] UNIV IOWA, DEPT OTOLARYNGOL, MOLEC OTOLARYNGOL RES LABS, IOWA CITY, IA 52242 USA
[2] UNIV MADRAS, DEPT GENET, MADRAS, TAMIL NADU, INDIA
[3] UNIV ANTWERP, DEPT MED GENET, B-2610 ANTWERP, BELGIUM
[4] BOYS TOWN NATL RES HOSP, OMAHA, NE USA
[5] NIDOCD, ROCKVILLE, MD USA
来源：
HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 09期
关键词：
D O I：
10.1093/hmg/4.9.1643
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：
Hearing impairment is inherited most frequently as an autosomal recessive isolated clinical finding (nonsyndromic hearing loss, NSHL). Extreme heterogeneity and phenotypic variability in the audiometric profile preclude pooling of affected families and severely hamper gene mapping by conventional linkage analysis. However, in instances of consanguinity, homozygosity mapping can be used to identify disease loci in small nuclear families. This report demonstrates the power of this technique by identifying a locus for recessive NSHL on 14q (DFNB4).
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页码：1643 / 1648
页数：6
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