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Mol Vis. 2010 Dec 8;16:2634-8.

Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q.

Author information

1
National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.

Abstract

PURPOSE:

To localize the disease interval for autosomal recessive congenital cataracts in a consanguineous Pakistani family.

METHODS:

All affected individuals underwent detailed ophthalmologic examination. Blood samples were collected and genomic DNA was extracted. A genome-wide scan was performed with fluorescently-labeled microsatellite markers on genomic DNA from affected and unaffected family members and logarithm of odds (LOD) scores were calculated.

RESULTS:

Clinical records and ophthalmological examinations suggested that affected individuals have bilateral congenital cataracts. Genome-wide linkage analysis localized the critical interval to chromosome 3q with a maximum LOD score of 3.87 at θ=0; with marker D3S3609. Haplotype analyses refined the critical interval to a 23.39 cM (18.01 Mb) interval on chromosome 3q, flanked by D3S1614 proximally and D3S1262, distally.

CONCLUSIONS:

Here, we report a new locus for autosomal recessive congenital cataract localized to chromosome 3q in a consanguineous Pakistani family.

PMID:
21179239
PMCID:
PMC3002966
[Indexed for MEDLINE]
Free PMC Article

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