title: [A heterozygous transversion of connexin 50 in a family with congenital nuclear cataract in the northeast of China].
abstract: OBJECTIVE
  To identify the genetic defect causing autosomal dominant congenital cataract (ADCC) in a five-generation family in the northeast of China.
  
  
  METHODS
  Linkage analysis was carried out with polymorphic microsatellites on the Human MapPairs marker set, special known loci. Mutation analysis of the candidate gene in the critical region was performed to detect the potential mutation.
  
  
  RESULTS
  The maximum Lod score (2.44 at recombination fraction theta=0) was obtained for markers D1S498,D1S305, and D1S2844. The cataract locus in this family constellation was mapped to 1q21.1 and 21.44 cM interval between D1S2344 and D1S2844, which were known to flank the gene coding Connexin 50 (Cx50) or gap junction protein alpha-8 (GJA8). Sequencing of the coding region of GJA8 gene showed a heterozygous transversion T>G in exon 2, which resulted in the substitution of glycine for valine at amino acid 64, and this position was in the first connexin signature region that characterized this protein.
  
  
  CONCLUSIONS
  This is the first report on a mutation in the first connexin signature region of the GJA8 and a different mutation within Cx50 revealed in this family, which might account for the phenotypic differences observed. Furthermore, this study confirmed that GJA8 plays a vital role in the maintenance of human lens transparency.
authors.affiliation: Tianjin Medical University Eye Center, Tianjin, 300070 PR China.
authors.forename: Jian-qiu
authors.initials: JQ
authors.lastname: Zheng
authors.forename: Zhi-wei
authors.initials: ZW
authors.lastname: Ma
authors.forename: Hui-min
authors.initials: HM
authors.lastname: Sun
mesh_terms: D001483:Base Sequence; D002386:Cataract / Q000151:congenital / Q000235:genetics*; D002681:China; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D000099264:Connexin 50
chemical_list: D017630:Connexins; D005136:Eye Proteins; D000099264:Connexin 50