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

Namerah Sabir, S. Amer Riazuddin, Haiba Kaul, 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 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 θ=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.

Original languageEnglish (US)
Pages (from-to)2911-2915
Number of pages5
JournalMolecular vision
Volume16
StatePublished - Dec 1 2010

ASJC Scopus subject areas

  • Ophthalmology

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