A new locus for inherited nuclear cataract mapped to the long arm of chromosome 1.
OBJECTIVE
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.
Wang
Li
L
Department of Ophthalmology, the Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang PR China.
Lin
Hui
H
Shen
Yan
Y
Huang
Shangzhi
S
Gu
Jingzhi
J
Su
Hong
H
Qi
Yanhua
Y
D002386:Cataract / Q000235:genetics*; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005260:Female; D030342:Genetic Diseases, Inborn; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree