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

Authors
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
Citation
K. Fukushima et al., CONSANGUINEOUS NUCLEAR FAMILIES USED TO IDENTIFY A NEW LOCUS FOR RECESSIVE NON-SYNDROMIC HEARING-LOSS ON 14Q, Human molecular genetics, 4(9), 1995, pp. 1643-1648
Citations number
32
Categorie Soggetti
Genetics & Heredity",Biology
Journal title
Human molecular genetics → ACNP
ISSN journal
09646906
Volume
4
Issue
9
Year of publication
1995
Pages
1643 - 1648
Database
ISI
SICI code
0964-6906(1995)4:9<1643:CNFUTI>2.0.ZU;2-6
Abstract
Hearing impairment is inherited most frequently as an autosomal recess ive isolated clinical finding (nonsyndromic hearing loss, NSHL). Extre me heterogeneity and phenotypic variability in the audiometric profile preclude pooling of affected families and severely hamper gene mappin g by conventional linkage analysis. However, in instances of consangui nity, homozygosity mapping can be used to identify disease loci in sma ll nuclear families. This report demonstrates the power of this techni que by identifying a locus for recessive NSHL on 14q (DFNB4).