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KMID : 0359920080270020220
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Korean Journal of Nephrology
2008 Volume.27 No. 2 p.220 ~ p.223
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PAX2 Gene Assay in a Family of Ocular Coloboma with Bilateral Renal Hypoplasia
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Bae Woo-Kyun
Park Jeong-Woo
Bae Eun-Hui
Ma Seong-Kwon
Kim Nam-Ho
Choi Ki-Chul
Ahn Jae-Kyoun
Yun Ju-Hyun
Kim Hyeoung-Joon
Kim Soo-Wan
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Abstract
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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.
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KEYWORD
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Coloboma, PAX2 protein
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