Linkage Studies of Non-Syndromic Recessive Deafness (NSRD) in a Family Originating from the Mirpur Region of Pakistan Maps DFNB1 Centromeric to D13S175

Autosomal recessive non-syndromal hearing impairment (NSRD) is genetically heterogeneous. Five loci have been identified to date which map to chromosomes 13 (DFNB1), 11 (DFNB2), 17 (DFNB3), 7 (DFNB4) and 14 (DFBN5). We report definite linkage of NSRD to the locus DFNB1 in a single family of 27 famil...

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Bibliographic Details
Published in:Human molecular genetics 1996-01, Vol.5 (1), p.169-173
Main Authors: Brown, K. A., Janjua, A. H., Karbani, G., Parry, G., Noble, A., Crockford, G., Bishop, D. T., Newton, V. E., Markham, A. F., Mueller, R. F.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Child
Chromosome Mapping
Chromosomes, Human, Pair 13
Connexins
Consanguinity
Deafness - ethnology
Deafness - genetics
Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
Female
Genes, Recessive
Genotype
Humans
Lod Score
Male
Medical sciences
Non tumoral diseases
Otorhinolaryngology. Stomatology
Pakistan - ethnology
Pedigree
United Kingdom - epidemiology
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Summary:Autosomal recessive non-syndromal hearing impairment (NSRD) is genetically heterogeneous. Five loci have been identified to date which map to chromosomes 13 (DFNB1), 11 (DFNB2), 17 (DFNB3), 7 (DFNB4) and 14 (DFBN5). We report definite linkage of NSRD to the locus DFNB1 in a single family of 27 families studied of Pakistani origin. Haplotype analysis of markers in the pericentromeric region of chromosome 13q revealed a recombination event which maps DFNB1 proximal to the marker D13S175 and in the vicinity of D13S143.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/5.1.169