Mutation analysis of the PAX6 gene in a family with congenital aniridia and cataract / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 542-545, 2009.
Article
in Chinese
| WPRIM
| ID: wpr-287378
ABSTRACT
<p><b>OBJECTIVE</b>To identify the mutation in the PAX6 gene in a family with congenital aniridia and cataract.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>The mutation (R261X) detected in the present study is considered to result in the occurrence of congenital aniridia and cataract in the Chinese family.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Repressor Proteins
/
Cataract
/
Molecular Sequence Data
/
Base Sequence
/
Aniridia
/
Amino Acid Sequence
/
Homeodomain Proteins
/
Codon, Nonsense
/
Asian People
Type of study:
Prognostic study
Limits:
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2009
Type:
Article
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