Mutation analysis of the PAX6 gene in a family with congenital aniridia and cataract.
- Author:
Ying LIN
1
;
Jing LI
;
Yang YANG
;
Ji-yun YANG
;
Ben ZHANG
;
Xin TANG
;
Xiao-qi LIU
;
Fang LU
;
Zheng-lin YANG
Author Information
- Publication Type:Journal Article
- MeSH: Amino Acid Sequence; Aniridia; genetics; Asian Continental Ancestry Group; genetics; Base Sequence; Cataract; congenital; genetics; Codon, Nonsense; Eye Proteins; genetics; Homeodomain Proteins; genetics; Humans; Male; Molecular Sequence Data; PAX6 Transcription Factor; Paired Box Transcription Factors; genetics; Pedigree; Repressor Proteins; genetics
- From: Chinese Journal of Medical Genetics 2009;26(5):542-545
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the mutation in the PAX6 gene in a family with congenital aniridia and cataract.
METHODSTotal 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.
RESULTSA 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.
CONCLUSIONThe mutation (R261X) detected in the present study is considered to result in the occurrence of congenital aniridia and cataract in the Chinese family.
