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KMID : 0624219930010000062
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Focus on Genetic Science
1993 Volume.1 No. 0 p.62 ~ p.67
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Molecular Genetic Analysis of the PBG Deaminase Gene in Korean Patients with Acute Intermittent Porphyria
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Lee Jin-Sung
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Abstract
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Three acute intermittent porphyria (AIP) families consisting of 11 members and 50 normal individual were subjected to the molecular genetic analysis of porphobilinogen (PBG) deaminase gene. Haplotyping was performed by amplifying 2.4 kb genomic DNA containing polymorphic sites for MspI and PstI restriction fragments polymorphism (RFLP) and 0.9 kb fragment for BstNI and ApaLI RFLP. The analysis of RFLP for MspI and PstI was not successful but RFLPs were found in ApaLI and BstNI. The frequencies of each allele for both RFLPs were 0.83 for -/+ (ApaLI/BstNI) haplotype and 0.13 for +/- haplotype. -/- or +/+ haplotype were did not detected in Korean population. The present results indicate that Korean population is homogenous in Genetic aspects and the PBG deaminase gene is conserved with low mutational frequencies.
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KEYWORD
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