title: The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23.
abstract: Autosomal recessive non-syndromic hearing impairment (ARNSHI) is the most common form of prelingual inherited hearing impairment (HI). Here is described the mapping of a novel ARNSHI locus in a consanguineous Pakistani family with profound congenital HI. Two-point and multipoint linkage analyses were performed for the genome scan and fine mapping markers. Haplotypes were constructed to determine the region of homozygosity. At theta = 0, the maximum two-point LOD score of 4.0 was obtained at marker AAC040. A maximum multipoint LOD score of 5.3 was derived at marker D12S320, with the three-unit support interval demarcated by D12S89 and D12S1042. The region of homozygosity is flanked by markers D12S358 and D12S1042, which corresponds to 22.4 cM according to the Rutgers combined linkage-physical map of the human genome and spans 15.0 Mb on the sequence-based physical map. A novel ARNSHI locus DFNB62 was mapped to chromosome 12p13.2-p11.23. DFNB62 represents the second ARNSHI locus to map to chromosome 12.
authors.affiliation: Department of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.
authors.forename: G
authors.initials: G
authors.lastname: Ali
authors.forename: R L P
authors.initials: RL
authors.lastname: Santos
authors.forename: P
authors.initials: P
authors.lastname: John
authors.forename: M A L
authors.initials: MA
authors.lastname: Wambangco
authors.forename: K
authors.initials: K
authors.lastname: Lee
authors.forename: W
authors.initials: W
authors.lastname: Ahmad
authors.forename: Sm
authors.initials: S
authors.lastname: Leal
mesh_terms: D002881:Chromosomes, Human, Pair 12; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D006239:Haplotypes; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D020161:Physical Chromosome Mapping