Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.

ABSTRACT: In communities with high rates of consanguinity and consequently high prevalence of recessive phenotypes, homozygosity mapping with SNP arrays is an effective approach for gene discovery. In 20 Palestinian kindreds with prelingual nonsyndromic hearing loss, we generated homozygosity profiles reflecting linkage to the phenotype. Family sizes ranged from small nuclear families with two affected children, one unaffected sibling, and parents to multigenerational kindreds with 12 affected relatives. By including unaffected parents and siblings and screening 250 K SNP arrays, even small nuclear families yielded informative profiles. In 14 families, we identified the allele responsible for hearing loss by screening a single candidate gene in the longest homozygous region. Novel alleles included m

SUBMITTER: Shahin H 

PROVIDER: S-EPMC2987250 | biostudies-literature | 2010 Apr

REPOSITORIES: biostudies-literature