A new locus for autosomal recessive congenital cataract identified in a Pakistani family

[摘要] Purpose: To identify the disease locusfor autosomal recessive congenital cataract in a consanguineousPakistani family. Methods: All affected individualsunderwent detailed ophthalmologic and medical examination. Bloodsamples were collected and DNA was extracted. A genome-wide scan wasperformed with polymorphic microsatellite markers on genomic DNA fromaffected and unaffected family members, and logarithm of odds (LOD)scores were calculated. Results: The clinical records andophthalmological examinations suggested that all affected individualshave nuclear cataracts. Maximum LOD scores of 5.01, 4.38, and 4.17 atθ=0 were obtained with markers D7630, D7S657, and D7S515, respectively.Fine mapping refined the critical interval and suggested that markersin a 27.78 cM (27.96 Mb) interval are flanked by markers D7S660 andD7S799, which co-segregate with the disease phenotype in familyPKCC108. Conclusions: We have identified a newlocus for autosomal recessive congenital cataract, localized tochromosome 7q21.11-q31.1 in a consanguineous Pakistani family.

[学科分类] 生物化学/生物物理