A novel mutation of the PAX6 gene identified in a northeastern Chinese family with congenital aniridia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 172-175, 2008.
Article
in Chinese
| WPRIM
| ID: wpr-229798
ABSTRACT
<p><b>OBJECTIVE</b>To identify the mutation of the PAX6 gene in a northeastern Chinese family with aniridia.</p><p><b>METHODS</b>Three aniridia patients from the family were undergone full ophthalmologic examinations. Genomic DNA was prepared from venous leukocytes from these three patients, five non-carriers in the family as well as 100 healthy normal controls. The coding regions of PAX6 gene were analyzed by PCR amplification, single-strand conformation polymorphism and direct DNA sequencing.</p><p><b>RESULTS</b>The sequencing result revealed one novel PAX6 mutation in the three patients with familial aniridia. The mutation is a 9 base pair(bp) deletion in exon 5 (c.483del9) that results in a putative PAX6 protein with in-frame deletions of aspartic acid, isoleucine and serine at the amino acids 41-43.</p><p><b>CONCLUSION</b>A PAX6 gene mutation beyond the existing spectrum of mutations has been identified in a northeastern Chinese family with aniridia. The genetic analysis suggests that the novel mutation in the PAX6 gene may be the cause of the classical aniridia phenotype.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Repressor Proteins
/
DNA Mutational Analysis
/
Aniridia
/
Polymerase Chain Reaction
/
Exons
/
Polymorphism, Single-Stranded Conformational
/
Homeodomain Proteins
/
Asian People
/
Paired Box Transcription Factors
Type of study:
Prognostic study
Limits:
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2008
Type:
Article
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