A novel locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family maps to chromosome 2p.
OBJECTIVE
To identify a disease locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.


METHODS
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.
National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
Shagufta
S
Naz
S Amer
SA
Riazuddin
Lin
L
Li
Mariam
M
Shahid
Samra
S
Kousar
Paul A
PA
Sieving
J Fielding
JF
Hejtmancik
Sheikh
S
Riazuddin
D000328:Adult; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D003241:Consanguinity; D004596:Electroretinography; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D056426:Genetic Loci; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D016017:Odds Ratio; D010154:Pakistan; D010375:Pedigree; D011446:Prospective Studies; D012174:Retinitis Pigmentosa / Q000235:genetics*; D055815:Young Adult