title: A new locus in chromosome 2q37-qter is associated with posterior polar cataract.
abstract: OBJECTIVE
  To study the genetic basis of autosomal dominant posterior polar cataracts in two Chinese pedigrees.
  
  
  METHODS
  Peripheral blood samples were collected and genomic DNA was isolated. A genome-wide scan, using microsatellite markers at approximately 10-cm intervals and additional microsatellite markers for the positive region, was performed. Haplotype data were processed using Cyrillic software (version 2.1) to define the region of the disease gene. Mutation analysis was carried out for candidate genes. Sequencing data were analyzed with the software Sequence Scanner v1.0.
  
  
  RESULTS
  A maximum two-point LOD score (Z (max)) of 2.53 and 2.03 was obtained at marker D2S125 with recombination θ = 0.00 in the two families. The possible disease genes were located at approximately 8.44-cM between the marker D2S125 and the terminal of chromosome 2q, namely, 2q37-qter. Candidate genes, such as Gamma-crystallins (CRYGA-D), septin 2 (SEPT2), aquaporin 12B (AQP12B), and chemokine orphan receptor 7 (CXCR7), were sequenced but no causative mutations were found.
  
  
  CONCLUSIONS
  Our results suggest that an unidentified gene in chromosome 2q37-qter is associated with posterior polar cataract, which may have an implication in understanding the genetic and molecular mechanisms of cataracts.
authors: Eye Hospital, The First Affiliated Hospital, Harbin Medical University, 23 Youzheng Road, Harbin 150001, China.
authors: Shan
authors: S
authors: Ouyang
authors: Linhan
authors: L
authors: Gao
authors: Lu
authors: L
authors: Zhang
authors: Yi
authors: Y
authors: Zheng
authors: Wenping
authors: W
authors: Cao
authors: Guoyin
authors: G
authors: Feng
authors: Lin
authors: L
authors: He
authors: Ping
authors: P
authors: Liu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002386:Cataract / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D008040:Genetic Linkage; D056426:Genetic Loci; D055106:Genome-Wide Association Study; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D055815:Young Adult