아포지단백 AI-CIII-AIV gene cluster polymorphisms에 대한 PCR 분석법 개발과 이들 polymorphism이 한국인 관상동맥질환의 발병에 미치는 영향에 관한 연구

다국어 초록 (Multilingual Abstract)

More than 20 different RELPs have been described in the apo AⅠ-CⅡI-AVⅠ gene cluster and their association with several dyslipidemias has been claimed in different populations. So far, however, the results of their association have been largely inconclusive. We analyzed six previously described RFLPs (Paul-Hayase et al., 1992) in the apo AⅠ-CⅡI-AVⅠgene cluster by using PCR-amplified DNAs in 132 healthy subjects to document the relationship between the RELPs and dyslipoproteinemias. The polymorphic sites were located in the promoter region of the apo AⅠgene(G to A substitution, MspⅠ), in the 3' flanking region of the apo AⅠgene (PstⅠ), in the 3' noncoding region of the apo CⅢ gene (SstⅠ), in the first intron of the apo CⅢ gene (PvuⅡa), in the intergenic region of the apo CⅢ and apo AⅣ genes (PvuⅡb), and in the second intron of the apo AⅣ gene (XbaⅠ), respectively. The allele frequencies of PstⅠpolymorphism showed no ethnic difference. However, in G to A substitution sites (MspⅠ), Koreans had a lower G allele frequency than that of Caucasians. Among Oriental ethnic groups there were no significant differences in the allele frequencies of SstⅠand PvuⅡa RFLPs, whereas significant differences existed between individuals of Orlental, Caucasian, and/or African origins. Koreans were monomorphic for PvuⅡb and XbaⅠrestriction sites. Pairwise linkage disequilibrium analysis revealed two pairs of significant negative linkage disequilibriums (MspⅠ-SstⅠand SstⅠ-PvuⅡa). Although there were no statistical significances, the S2 allele of SstⅠpolymorphism and the G allele of MspⅠpolymorphism seemed to be associated with hypertriglyceridemia. Thus linkage of the G allele of MspⅠpolymorphism and the S2 allele of SstⅠpolymorphism could give an additive effect on an increment of triglyceride levels. We did not find any association between the SstⅠpolymorphism and apo CⅢ levels. In conclusion, there were no statistically significant relationships detected between the apo AⅠ-CⅡI-AVⅠgene cluster polymorphisms an the levels of various lipid parameters.

목차 (Table of Contents)

• Linkage Disequilibrium of the Apo AI-CIII-AIV Gene Cluster and Their Relationship to Plasma Triglyceride and Clll Levels in Koreans
• 1.Abstract
• 2.Introduction
• 3.Materials and Methods
• 4.Results
• 5.Discussion
• 6.References
• 아포지단백 AI-CIII-AIV gene cluster polymorphisms 이 한국인 관상동맥질환의 발병에 미치는 영향
• 1.Abstract
• 2.서론
• 3.재료 및 방법
• 4.결과
• 5.고안
• 6.참고문헌