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

Namerah Sabir, S. Amer Riazuddin, Tariq Butt, Farheena Iqbal, Idrees A. Nasir, Ahmad U. Zafar, Zaheeruddin A. Qazi, Nadeem H. Butt, Shaheen N. Khan, Tayyab Husnain, J. Fielding Hejtmancik, Sheikh Riazuddin

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)2634-2638
Number of pages5
JournalMolecular vision
Volume16
StatePublished - Dec 1 2010

ASJC Scopus subject areas

  • Ophthalmology

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