Localization of autosomal recessive congenital cataracts inconsanguineous Pakistani families to a new locus on chromosome 1p

[摘要] Purpose: To identify the disease locus for autosomal recessivecongenital cataracts in two consanguineous Pakistani families.Methods: Two Pakistani families were ascertained, ophthalmologicexamination including slit lamp biomicroscopy was performed on allmembers, blood samples were collected and DNA was extracted. Agenome-wide scan was performed using 382 polymorphic microsatellitemarkers on genomic DNA from affected and unaffected family members.Two-point logarithm of odds (LOD) scores were calculated using theLINKAGE program package.Results: All the affected individuals of family PKCC009 showbilateral membranous cataract, whereas the affected individuals offamily PKCC039 show bilateral posterior sub-capsular cataract. Otherocular abnormalities include corneal opacities, microcornea andnystagmus in the affected individuals of PKCC009. Maximum two point LODscores were obtained with D1S186 (4.14 at θ= 0), D1S432 (4.01 atθ= 0), D1S2892 (4.11 at θ= 0), and D1S2797 (4.07 at θ= 0)for family PKCC009 and with D1S496 (4.73 at θ= 0), D1S2892 (4.34 atθ= 0), D1S3721 (4.83 at θ= 0), and D1S2797 (4.32 at θ= 0)for family PKCC039. The common linked region, 20.76 cM (20.80 Mb), isflanked by markers D1S2729 and D1S2890 and co-segregates with thedisease in both families, placing the disease locus on chromosome1p34.3-p32.2.Conclusions: Linkage analysis of autosomal recessive cataracts intwo consanguineous Pakistani families localizes a novel locus forautosomal recessive congenital cataract on chromosome 1p.

[学科分类] 生物化学/生物物理