Analysis of PAX6 gene mutations in a Chinese family affected with congenital aniridia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 523-525, 2016.
Article
in Chinese
| WPRIM
| ID: wpr-247642
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the mutation of PAX6 gene in a Chinese family affected with congenital aniridia.</p><p><b>METHODS</b>Blood samples were drawn from family members, and DNA was analyzed by direct sequencing.</p><p><b>RESULTS</b>A heterozygous mutation (c.151 G>A) was identified in the PAX6 gene in the proband and other patients from the family. The same mutation was not found among unaffected family members and 160 unrelated healthy controls.</p><p><b>CONCLUSION</b>A novel mutation in the PAX6 gene has been identified in a Chinese family affected with aniridia.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Repressor Proteins
/
Aniridia
/
Homeodomain Proteins
/
Paired Box Transcription Factors
/
Eye Proteins
/
PAX6 Transcription Factor
/
Genetics
/
Mutation
Type of study:
Prognostic study
Limits:
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Type:
Article
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