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Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p.

ABSTRACT: PURPOSE: To identify the disease locus for autosomal recessive congenital cataracts in a consanguineous Pakistani family. METHODS: All affected individuals underwent a detailed ophthalmologic examination. Blood samples were collected and genomic DNA was extracted. A genome-wide scan was completed with fluorescently-labeled microsatellite markers on genomic DNA from affected and unaffected family members. Logarithms of odds (LOD) scores were calculated under a fully penetrant autosomal recessive model of inheritance. RESULTS: Ophthalmic examination suggested that affected individuals have bilateral cataracts. Linkage analysis localized the critical interval to chromosome 8p with LOD scores of 3.19, and 3.08 at ?=0, obtained with markers D8S549 and D8S550, respectively. Haplotype analyses refined the critical interval to 37.92 cM (16.28 Mb) region, flanked by markers, D8S277 proximally and D8S1734 distally. CONCLUSIONS: Here, we report a new locus for autosomal recessive congenital cataract mapped to chromosome 8p in a consanguineous Pakistani family.

SUBMITTER: Sabir N 

PROVIDER: S-EPMC3013063 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature

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<h4>Purpose</h4>To identify the disease locus for autosomal recessive congenital cataracts in a consanguineous Pakistani family.<h4>Methods</h4>All affected individuals underwent a detailed ophthalmologic examination. Blood samples were collected and genomic DNA was extracted. A genome-wide scan was completed with fluorescently-labeled microsatellite markers on genomic DNA from affected and unaffected family members. Logarithms of odds (LOD) scores were calculated under a fully penetrant autosom  ...[more]

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