Abstract
Hearing impairment is inherited most frequently as an autosomal recessive isolated clinical finding (non-syndromic 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).
Original language | English (US) |
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Pages (from-to) | 1643-1648 |
Number of pages | 6 |
Journal | Human Molecular Genetics |
Volume | 4 |
Issue number | 9 |
DOIs | |
State | Published - Sep 1995 |
Externally published | Yes |
ASJC Scopus subject areas
- Molecular Biology
- Genetics
- Genetics(clinical)