PAX2 Gene Assay in a Family of Ocular Coloboma with Bilateral Renal Hypoplasia.
- Author:
Woo Kyun BAE
1
;
Jeong Woo PARK
;
Eun Hui BAE
;
Seong Kwon MA
;
Nam Ho KIM
;
Ki Chul CHOI
;
Jae Kyoun AHN
;
Ju Hyun YUN
;
Hyeoung Joon KIM
;
Soo Wan KIM
Author Information
1. Department of Internal Medicine, Chonnam National University Medical School, Gwangju, Korea. skimw@chonnam.ac.kr
- Publication Type:Case Report
- Keywords:
Coloboma;
PAX2 protein
- MeSH:
Clinical Coding;
Coloboma;
DNA;
Exons;
Family Characteristics;
Humans;
Polymerase Chain Reaction;
Polymorphism, Single Nucleotide;
Visual Acuity
- From:Korean Journal of Nephrology
2008;27(2):220-223
- CountryRepublic of Korea
- Language:English
-
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.
