Journal
AMERICAN JOURNAL OF OPHTHALMOLOGY
Volume 149, Issue 5, Pages 861-866Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.ajo.2009.12.034
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- HIGHER EDUCATION COMMISSION AND MINISTRY OF SCIENCE AND TECHNOLOGY, ISLAMABAD, Pakistan
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OBJECTIVE: To identify a disease locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. DESIGN: Prospective linkage study. METHODS: Blood samples were collected and genomic DNA was extracted. A genome-wide scan was performed using 382 polymorphic microsatellite markers on genomic DNA from 4 affected and 5 unaffected family members, and logarithm of odds scores were calculated. RESULTS: A maximum 2-point logarithm of odds score of 3.14 at 0 = 0 was obtained for marker D2S165 during the genome-wide scan. Fine mapping markers identified a 20.92-cM (19.98-Mb) interval flanked by D2S149 and D2S367 that cosegregates with the disease phenotype. Haplotype analyses further refined the critical interval, distal to D2S220 in a 12.31-cM (13.35-Mb) region that does not harbor any genes that previously have been associated with retinitis pigmentosa. CONCLUSIONS: Linkage analysis identified a new locus for autosomal recessive retinitis pigmentosa that maps to chromosome 2p22.3-p24.1 in a consanguineous Pakistani family. (Am J Ophthalmol 2010;149:861-866. (C) 2010 by Elsevier Inc. All rights reserved.)
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