[Mutation analysis of the PAX6 gene in a family with congenital aniridia and cataract].
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.
Lin
Ying
Y
Sichuan Provincial Key Laboratory for Human Disease, Sichuan Academy of Medical Science, PR China.
Li
Jing
J
Yang
Yang
Y
Yang
Ji-yun
JY
Zhang
Ben
B
Tang
Xin
X
Liu
Xiao-qi
XQ
Lu
Fang
F
Yang
Zheng-lin
ZL
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*
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