A new locus for inherited nuclear cataract mapped to the long armof chromosome 1

[摘要] Purpose: To identify the disease-associated locus in a Chinesefamily with autosomal-dominant inherited nuclear cataract.Methods: Genomic DNAs were obtained from 17 family members in afour-generation Chinese family, who had eight members affected withcataract. Exclusive linkage analysis of known candidate inheritedcataract loci was performed. A genome-wide scanning was carried outusing the ABI PRISM Linkage Mapping set MD-10. For fine mapping,additional markers flanking the most promising region on chromosome 1were also analyzed. Two-point linkage analysis was performed with theMLINK program of the Linkage software package version 5.1. Haplotype wasconstructed using Cyrillic version 2.1.Results: After genome-wide scanning, we found significant evidenceof linkage for disease loci of nuclear cataract on 1q25-q31 withZmax=3.21 at marker D1S3470. Haplotype analysis and recombinationevents defined a critical interval spanning 4 cM between markers D1S222and D1S2823 at the long arm of chromosome 1.Conclusions: We identified a new locus for autosomal dominantinherited nuclear cataract on chromosome 1q in a Chinese family.

[学科分类] 生物化学/生物物理