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The mapping of DFNB62, a new locus for autosomal recessive non‐syndromic hearing impairment, to chromosome 12p13.2‐p11.23
Author(s) -
Ali G,
Santos RLP,
John P,
Wambangco MAL,
Lee K,
Ahmad W,
Leal SM
Publication year - 2006
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.1399-0004.2006.00611.x
Subject(s) - locus (genetics) , genetics , genetic linkage , gene mapping , biology , haplotype , lod score , disease gene identification , chromosome , gene , phenotype , allele , exome sequencing
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 θ = 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.