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KMID : 1189119970010010017
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대한의학유전학회지
1997 Volume.1 No. 1 p.17 ~ p.22
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Mutation Analyses in Korean patients with MELAS (Mitochondrial Encephalomyopathy, Lactic acidosis, and Stroke like episodes)
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Yang Young-Mok
Moon Eon-Soo
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Abstract
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Background: The angiotensin converting enzyme(ACE) is a key component of the renin-angiotensin system thought to be important in the pathogenesis of hypertension and cadiovascular diseases. Deletion polymorphism in the ACE gene may be a risk factor for myocardial infarction. The insertion/deletion(I/D) polymorphism of the ACE detected by PCR analysis appears to be associated with hypertension in Koreans and its nucleotide was subcloned into T-vector and its nucleotide sequences were determined. We also examined an association between hypertension and genetic variance of ACE.
Methods and Results: We identified the angiotensin I-converting enzyme genotype in 127 hypertensive and 189 normotensive Korean subjects. The distribution of ACE genotype II, ID, DD were 39.2%, 40.2%, 20.6% respectively and the frequency for ACE alleles I and D were 0.593 and 0.407, respecively in all subjects. The frequency of D allele in Korean males is higher than that of Korean females(male; 0.438 : female; 0.267), and the frequency of I allele in Korean females is higher than that of Korean males(female; 0.733 : male; 0.562). Genotype distributions of angiotensin I-converting enzyme genes in Korean normal adult population were different from that of Caucasians(P<0.001). There were no significant differences in genotype frequency between the hypertensive control group(n=127) and the normotensive group(n=189).
Conclusion: We observed significant differences of ACE genotype distribution between the male group and the female group in total(P=0.001) and in hypertensive Korean subjects(P=0.013).
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KEYWORD
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Angiotensin I-converting enzyme, ACE genotype, Gene frequency, genetic polymorphism
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