Identification of a novel PAX6 mutation in a family with congenital aniridia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 579-581, 2013.
Article
in Chinese
| WPRIM
| ID: wpr-237203
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutation in a Chinese family where two individuals were affected with hereditary congenital aniridia.</p><p><b>METHODS</b>Peripheral blood samples were taken for genomic DNA extraction. All of the 15 exons of PAX6 gene were amplified with PCR. The product were purified with gel electrophoresis and sequenced.</p><p><b>RESULTS</b>In both patients, a novel deletion mutation (c.957-958delCA) in exon 13 of the PAX6 gene was identified, which has produced a terminator codon. The same mutation was not found in healthy controls.</p><p><b>CONCLUSION</b>A c.957-958delCA mutation of PAX6 gene is probably the cause of aniridia in this Chinese family.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Repressor Proteins
/
Molecular Sequence Data
/
Base Sequence
/
Aniridia
/
Exons
/
Sequence Deletion
/
Homeodomain Proteins
/
Asian People
/
Paired Box Transcription Factors
Type of study:
Prognostic study
Limits:
Adult
/
Child
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2013
Type:
Article
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