Korean J Nephrol.
2008 Mar;27(2):220-223.
PAX2 Gene Assay in a Family of Ocular Coloboma with Bilateral Renal Hypoplasia
- Affiliations
-
- 1Department of Internal Medicine, Chonnam National University Medical School, Gwangju, Korea. skimw@chonnam.ac.kr
- 2Department of Opthalmology, Chonnam National University Medical School, Gwangju, Korea.
- 3Korea Genome Research Center of Hematopoietic disease, Chonnam National University Hwasun Hospital, Hwasun, Korea.
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.
