PAX2 Gene Assay in a Family of Ocular Coloboma with Bilateral Renal Hypoplasia / 대한신장학회지
Korean Journal of Nephrology
;
: 220-223, 2008.
Article
in English
| WPRIM
| ID: wpr-229134
ABSTRACT
We report one family with bilateral renal hypoplasia and ocular coloboma in two consecutive generations. Ophthalmological examination revealed optic disc coloboma and decreased visual acuity. Fragments spanning exon 1-12 of the PAX2 gene were amplified from genomic DNA using PCR primers. The PCR products were purified and directly sequenced. No definite mutation was detected in the PAX2 genes in these patients, but two coding region single nucleotide polymorphisms were identified. This result suggests that the optic disc coloboma with bilateral renal hypoplasia might be genetically heterogenous or other genes could be responsible.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
DNA
/
Visual Acuity
/
Coloboma
/
Family Characteristics
/
Polymerase Chain Reaction
/
Exons
/
Polymorphism, Single Nucleotide
/
Clinical Coding
Type of study:
Prognostic study
Limits:
Humans
Language:
English
Journal:
Korean Journal of Nephrology
Year:
2008
Type:
Article
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