Dataset Information
A novel locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family maps to chromosome 2p.
Ontology highlight
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.
SUBMITTER: Naz S
PROVIDER: S-EPMC3399686 | biostudies-literature | 2010 May
REPOSITORIES: biostudies-literature
Publications
A novel locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family maps to chromosome 2p.
American journal of ophthalmology 20100315 5
<h4>Objective</h4>To identify a disease locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.<h4>Design</h4>Prospective linkage study.<h4>Methods</h4>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.<h4>Results</h4>A maximum 2-point logarithm of odds score of 3.14 at ...[more]