Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32.
Autosomal recessive nonsyndromic hearing impairment (ARNSHI) is the most frequent form of prelingual hereditary hearing loss in humans. Between 75 and 80% of all nonsyndromic deafness is inherited in an autosomal recessive pattern. Using linkage analysis, we have mapped a novel gene responsible for this form of nonsyndromic hearing impairment, DFNB65, in a consanguineous family from the Azad Jammu and Kashmir regions, which border Pakistan and India. A maximum multipoint LOD score of 3.3 was obtained at marker D20S840. The three-unit support interval is contained between markers D20S902 and D20S430, while the region of homozygosity is flanked by markers D20S480 and D20S430. The novel locus maps to a 10.5-cM region on chromosome 20q13.2-q13.32 and corresponds to a physical map distance of 4.3 Mb. DFNB65 represents the first ARNSHI locus to map to chromosome 20.
Tariq
Aamira
A
Department of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.
Santos
Regie Lyn P
RL
Khan
Mohammad Nasim
MN
Lee
Kwanghyuk
K
Hassan
Muhammad Jawad
MJ
Ahmad
Wasim
W
Leal
Suzanne M
SM
D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D005819:Genetic Markers; D034381:Hearing Loss / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007194:India; D008126:Lod Score; D010154:Pakistan; D010375:Pedigree; D020161:Physical Chromosome Mapping
D005819:Genetic Markers