PURPOSE: To identify the disease-associated locus in a Chinese family with autosomal-dominant inherited nuclear cataract. METHODS: Genomic DNAs were obtained from 17 family members in a four-generation Chinese family, who had eight members affected with cataract. Exclusive linkage analysis of known candidate inherited cataract loci was performed. A genome-wide scanning was carried out using the ABI PRISM Linkage Mapping set MD-10. For fine mapping, additional markers flanking the most promising region on chromosome 1 were also analyzed. Two-point linkage analysis was performed with the MLINK program of the Linkage software package version 5.1. Haplotype was constructed using Cyrillic version 2.1. RESULTS: After genome-wide scanning, we found significant evidence of linkage for disease loci of nuclear cataract on 1q25-q31 with Z(max)=3.21 at marker D1S3470. Haplotype analysis and recombination events defined a critical interval spanning 4 cM between markers D1S222 and D1S2823 at the long arm of chromosome 1. CONCLUSIONS: We identified a new locus for autosomal dominant inherited nuclear cataract on chromosome 1q in a Chinese family.
PURPOSE: To identify the disease-associated locus in a Chinese family with autosomal-dominant inherited nuclear cataract. METHODS: Genomic DNAs were obtained from 17 family members in a four-generation Chinese family, who had eight members affected with cataract. Exclusive linkage analysis of known candidate inherited cataract loci was performed. A genome-wide scanning was carried out using the ABI PRISM Linkage Mapping set MD-10. For fine mapping, additional markers flanking the most promising region on chromosome 1 were also analyzed. Two-point linkage analysis was performed with the MLINK program of the Linkage software package version 5.1. Haplotype was constructed using Cyrillic version 2.1. RESULTS: After genome-wide scanning, we found significant evidence of linkage for disease loci of nuclear cataract on 1q25-q31 with Z(max)=3.21 at marker D1S3470. Haplotype analysis and recombination events defined a critical interval spanning 4 cM between markers D1S222 and D1S2823 at the long arm of chromosome 1. CONCLUSIONS: We identified a new locus for autosomal dominant inherited nuclear cataract on chromosome 1q in a Chinese family.
Authors: Salil A Lachke; Joshua W K Ho; Gregory V Kryukov; Daniel J O'Connell; Anton Aboukhalil; Martha L Bulyk; Peter J Park; Richard L Maas Journal: Invest Ophthalmol Vis Sci Date: 2012-03-21 Impact factor: 4.799