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© 1995 Oxford University Press

OTHER

Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q

Kunihiro Fukushima, Arabandi Ramesh1, C.R.Srikumari Srisailapathy1, Li Ni, Achih Chen, Marsha O'Neill, Guy Van Camp2, Paul Coucke2, Shelley D.Smith3, Judith B.Kenyon3, Pawain Jain4, Ed.R. Wilcox4, Ross I.S.Zbar and Richard J.H.Smith*

Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of lowa lowa City, IA, 52242, USA 1Department of Genetics, University of Madras Madras, India 2Department of Medical Genetics, University of Antwerp (UIA) 2610 Antwerpen, Belgium 3Boys Town National Research Hospital Omaha, NE 4National Institute on Deafness and Other Communication Disorders, National Institutes of Health Rockville, MD, USA

*To whom correspondence should be addressed

Received April 28, 1996; Accepted June 14, 1995

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).


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