Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2.
Hereditary hearing impairment (HI) is the most genetically heterogeneous trait known in humans. So far, 54 autosomal recessive non-syndromic hearing impairment (ARNSHI) loci have been mapped, and 21 ARNSHI genes have been identified. Here is reported the mapping of a novel ARNSHI locus, DFNB55, to chromosome 4q12-q13.2 in a consanguineous Pakistani family. A maximum multipoint LOD score of 3.5 was obtained at marker D4S2638. The region of homozygosity and the 3-unit support interval are flanked by markers D4S2978 and D4S2367. The region spans 8.2 cm on the Rutgers combined linkage-physical map and contains 11.5 Mb. DFNB55 represents the third ARNSHI locus mapped to chromosome 4.
Irshad
S
S
Department of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.
Santos
R L P
RL
Muhammad
D
D
Lee
K
K
McArthur
N
N
Haque
S
S
Ahmad
W
W
Leal
S M
SM
D002874:Chromosome Mapping / Q000379:methods; D002894:Chromosomes, Human, Pair 4; D003241:Consanguinity; D005808:Genes, Recessive; D005838:Genotype; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D010375:Pedigree