title: A new locus for inherited nuclear cataract mapped to the long arm of chromosome 1.
abstract: 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.
authors.affiliation: Department of Ophthalmology, the Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang PR China.
authors.forename: Li
authors.initials: L
authors.lastname: Wang
authors.forename: Hui
authors.initials: H
authors.lastname: Lin
authors.forename: Yan
authors.initials: Y
authors.lastname: Shen
authors.forename: Shangzhi
authors.initials: S
authors.lastname: Huang
authors.forename: Jingzhi
authors.initials: J
authors.lastname: Gu
authors.forename: Hong
authors.initials: H
authors.lastname: Su
authors.forename: Yanhua
authors.initials: Y
authors.lastname: Qi
mesh_terms: 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