Unknown

Dataset Information

0

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

Json Xml
altmetric image

Publications

<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]

Similar Datasets

Unknown A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q.
| S-EPMC3230366 | biostudies-literature
Unknown A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.
| S-EPMC1274489 | biostudies-literature
Unknown Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2.
| S-EPMC1288147 | biostudies-literature
Unknown Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32.
| S-EPMC1723146 | biostudies-literature
Unknown A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32.
| S-EPMC1377100 | biostudies-literature
Unknown Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.
| S-EPMC1226037 | biostudies-literature
Unknown A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.
| S-EPMC1288125 | biostudies-literature
Unknown Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.
| S-EPMC1235491 | biostudies-literature
Unknown DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.
| S-EPMC3312604 | biostudies-literature
Unknown Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families.
| S-EPMC5852608 | biostudies-literature