[Analysis of PAX6 gene in a Chinese family with congenital aniridia].
OBJECTIVE
To explore the pathogenic mutation in a Chinese family with congenital aniridia.


METHODS
It is a case-control study. All 21 members of the family underwent a comprehensive ophthalmic examination and family line investigation. Mononuclear cell was isolated from peripheral blood and genomic DNA was prepared by genomic DNA purification kit. All fourteen exons of the PAX6 gene were amplified by polymerase chain reaction (PCR) from proband's genomic DNA. PCR products of each exon were analyzed by direct sequencing.


RESULTS
A nonsense mutation (Q310X) in exon 11 of PAX6 gene was detected by sequencing analysis in the proband III2. This mutation cause the 301st amino acids codon switch from CAA to TAA and the codogenic amino acids altered from glutamine glutaminic acid to strong terminal codon. This mutation is also detected in all 11 patients of this family, but not present in the unaffected members in this family.


CONCLUSIONS
The premature translation termination of PAX6 gene caused by a nonsense mutation of Q310X should be responsible for congenital aniridia in this Chinese family.
Li
Peng-cheng
PC
Department of Ophthalmology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Yao
Qi
Q
Ren
Xiang
X
Zhang
Ming-chang
MC
Li
Hui
H
Liu
Jing-yu
JY
Sheng
Shuang-yan
SY
Wang
Qing
Q
Liu
Mu-gen
MG
D000293:Adolescent; D000328:Adult; D000368:Aged; D015783:Aniridia / Q000235:genetics; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D018389:Codon, Nonsense; D005091:Exons; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010375:Pedigree; D012097:Repressor Proteins / Q000235:genetics*; D017624:WAGR Syndrome / Q000235:genetics*; D055815:Young Adult
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