A novel locus DFNA59 for autosomal dominant nonsyndromic hearing loss maps at chromosome 11p14.2-q12.3.
Autosomal dominant nonsyndromic hearing loss (ADNSHL) accounts for about one-fifth of hereditary hearing loss in humans. In the present study, we have analyzed a three-generation family with 14 of its members manifesting ADNSHL, using a genome-wide linkage mapping approach. We found a novel locus DFNA59 between the D11S929 and D11S480 markers in the chromosome location 11p14.2-q12.3. The highest two-point lod score of 5.72 at recombination fraction = 0 was obtained for D11S4152, D11S4154, D11S1301, D11S905 and D11S1344. The critical genomic region comprising about 37 megabases of DNA is proposed to carry a gene for ADNSHL in the family. About 50 cochlear-expressed genes mapping to the region are strong candidates which we propose to examine to identify the gene responsible for the hearing impairment.
Chatterjee
Arunima
A
Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Bangalore, India.
Jalvi
Rajeev
R
Pandey
Nishtha
N
Rangasayee
R
R
Anand
Anuranjan
A
D000293:Adolescent; D001301:Audiometry, Pure-Tone; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005819:Genetic Markers; D006312:Hearing Loss, Bilateral / Q000151:congenital / Q000235:genetics / Q000503:physiopathology; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree
D005819:Genetic Markers