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A novel locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family maps to chromosome 2p

Am J Ophthalmol. 2010 May;149(5):861-6. doi: 10.1016/j.ajo.2009.12.034. Epub 2010 Mar 15.

Abstract

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 theta = 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosome Mapping
  • Chromosomes, Human, Pair 2 / genetics*
  • Consanguinity*
  • Electroretinography
  • Female
  • Genes, Recessive*
  • Genetic Linkage
  • Genetic Loci*
  • Humans
  • Male
  • Microsatellite Repeats / genetics
  • Odds Ratio
  • Pakistan
  • Pedigree
  • Prospective Studies
  • Retinitis Pigmentosa / genetics*
  • Young Adult