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Localization of a novel autosomal recessive non‐syndromic hearing impairment locus DFNB55 to chromosome 4q12‐q13.2
Author(s) -
Irshad S,
Santos RLP,
Muhammad D,
Lee K,
McArthur N,
Haque S,
Ahmad W,
Leal SM
Publication year - 2005
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2005.00492.x
Subject(s) - locus (genetics) , genetics , genetic linkage , biology , gene mapping , gene , quantitative trait locus , chromosome , lod score
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 c m on the Rutgers combined linkage‐physical map and contains 11.5 Mb. DFNB55 represents the third ARNSHI locus mapped to chromosome 4.