title: [Mutation analysis of the PAX6 gene in a family with congenital aniridia and cataract].
abstract: OBJECTIVE
  To identify the mutation in the PAX6 gene in a family with congenital aniridia and cataract.
  
  
  METHODS
  Total genomic DNA was extracted from peripheral blood leukocytes of 12 family members including three living affected members and 96 unrelated healthy controls. The coding exons 4-13 of the PAX6 gene with intronic flanking sequences were amplified by polymerase chain reaction (PCR). By comparing sequences of the affected members with that of normal individuals, the disease-causing mutation was detected by direct DNA sequencing.
  
  
  RESULTS
  A PAX6 mutation was identified in the 3 patients, which did not exist in the unaffected members and unrelated healthy individuals. The nonsense mutation of C to T was detected at the nucleotide 1143, which converted the Arg codon (CGA) to a stop codon(TGA) (R261X) in exon 10.
  
  
  CONCLUSIONS
  The mutation (R261X) detected in the present study is considered to result in the occurrence of congenital aniridia and cataract in the Chinese family.
authors.affiliation: Sichuan Provincial Key Laboratory for Human Disease, Sichuan Academy of Medical Science, PR China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Lin
authors.forename: Jing
authors.initials: J
authors.lastname: Li
authors.forename: Yang
authors.initials: Y
authors.lastname: Yang
authors.forename: Ji-yun
authors.initials: JY
authors.lastname: Yang
authors.forename: Ben
authors.initials: B
authors.lastname: Zhang
authors.forename: Xin
authors.initials: X
authors.lastname: Tang
authors.forename: Xiao-qi
authors.initials: XQ
authors.lastname: Liu
authors.forename: Fang
authors.initials: F
authors.lastname: Lu
authors.forename: Zheng-lin
authors.initials: ZL
authors.lastname: Yang
mesh_terms: D000595:Amino Acid Sequence; D015783:Aniridia / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002386:Cataract / Q000151:congenital / Q000235:genetics*; D018389:Codon, Nonsense; D005136:Eye Proteins / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010375:Pedigree; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins