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Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32‐p11.31
Author(s) -
Mir Asif,
Ansar Muhammad,
Chahrour Maria H.,
Pham Thanh L.,
Wajid Muhammad,
Haque Sayedul,
Yan Kai,
Ahmad Wasim,
Leal Suzanne M.
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30516
Subject(s) - genetics , locus (genetics) , microsatellite , biology , lod score , gene mapping , chromosome , genetic marker , gene , allele
Hereditary nonsyndromic deafness (NSD) is extremely heterogeneous. Autosomal recessive (AR) forms account for ∼75% of genetic cases. To date, over 40 ARNSD loci have been mapped. A novel locus (DFNB46) for ARNSD was mapped to chromosome 18p11.32‐p11.31 in a five‐generation Pakistani family. A 10 cM genome‐wide scan and fine mapping was carried out using microsatellite markers. A maximum multipoint LOD score of 3.8 was obtained at two markers, D18S481 and D18S1370. The three‐unit support interval is flanked by markers D18S59 and D18S391, corresponds to a 17.6 cM region according to the deCode genetic map and spans 5.8 Mb on the sequence‐based physical map. © 2005 Wiley‐Liss, Inc.