title: Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31.
abstract: Hereditary nonsyndromic deafness (NSD) is extremely heterogeneous. Autosomal recessive (AR) forms account for approximately 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.
authors.affiliation: Department of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.
authors.forename: Asif
authors.initials: A
authors.lastname: Mir
authors.forename: Muhammad
authors.initials: M
authors.lastname: Ansar
authors.forename: Maria H
authors.initials: MH
authors.lastname: Chahrour
authors.forename: Thanh L
authors.initials: TL
authors.lastname: Pham
authors.forename: Muhammad
authors.initials: M
authors.lastname: Wajid
authors.forename: Sayedul
authors.initials: S
authors.lastname: Haque
authors.forename: Kai
authors.initials: K
authors.lastname: Yan
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
authors.forename: Suzanne M
authors.initials: SM
authors.lastname: Leal
mesh_terms: D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D003638:Deafness / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree