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Methylenetetrahydrofolate Reductase(MTHFR) 유전자다형과 자연 유산아 발생의 관련성에 관한 연구
전익범,지승일,신승주,차선희,최동희,임동진,박상희,이수만,이상화,고정재,김남근,Jeon, Nick-Beom,Ji, Seung Il,Shin, Seung Joo,Cha, Sun Hee,Choi, Dong Hee,Yim, Dong Jin,Park, Sang Hee,Lee, Suman,Lee, Sang Hwa,Ko, Jung Jae,Kim, Nam Keun 대한생식의학회 2006 Clinical and Experimental Reproductive Medicine Vol.33 No.1
목 적: 본 연구는 methylenetetrahydrofolate reductase (MTHFR C677T와 A1298C) 유전자 돌연변이형이 자연유산아 발생의 원인 유전자로 작용하는지에 대해 알아보고자 시도하였다. 연구방법: 95명의 자연유산아 조직과 대조군으로 100명의 정상 소아의 혈액 그리고 449명의 정상 성인의 혈액을 채취하여 DNA를 분리하여 사용하였다. 유전자형은 분리된 DNA를 이용하여 중합효소 연쇄반응과 제한효소 절편다형 분석방법으로 결정하였다. 결 과: 자연유산아 그룹은 소아대조군에서 보다 MTHFR 677CC 형 (p=0.014)은 높게, 677CT형 (p=0.063)은 낮게 나타났다. 성인대조군과의 비교에서도 MTHFR 677CT 형의 빈도는 현저히 낮게 나타났다 (p=0.032). 그리고 MTHFR 677CC/1298AC 조합형 유전자의 경우 소아대조군 (p=0.034)과의 비교에서는 현저히 높은 빈도를 나타냈으나, 성인대조군 (p=0.063)과의 비교에서는 높은 경향성은 있었으나 통계학적으로 유의한 차이는 없었다. 결 론: MTHFR 677CC와 MTHFR 677CC/1298AC 유전자형은 자연유산아 발생의 위험인자일 가능성이 높으며, 지속적인 연구가 요구된다. Objectives : This study was performed to understand the influence of the methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) genotypes on the spontaneously aborted embryos. Methods : DNA was extracted from tissue samples of 95 spontaneously aborted embryos and 100 samples of normal children randomly and 449 samples of normal adults were selected as the controls. MTHFR genotypes were determined by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Results : The aborted embryo group had higher frequency of MTHFR 677CC type (p=0.014) and lower 677CT type (p=0.063) than the controlled child group. The frequency of MTHFR 677CT type was drastically lower than that of controlled adult group (p=0.032). In the MTHFR C677T/A1298C combination, 677CC/1298AC genotype of the aborted embryo was significantly higher (p=0.034) than that of controlled child group, but it was not statistically significant in controlled adult group (p=0.063). Conclusion : MTHFR 677CC and MTHFR 677CC/1298AC genotypes may represent genetic markers for the risk of spontaneously aborted embryos at least in Koreans.
김정헌(JeongHeon Kim),박혜리(Hyeri Park),이수만(Suman Lee),장용형(YongHeng Zahng),오염덕(Ryumduck Oh) 한국컴퓨터정보학회 2024 한국컴퓨터정보학회 학술발표논문집 Vol.32 No.1
본 논문에서는 기존 철도 운영 및 관리 모니터링 시스템 플랫폼을 활용하여 수집한 소음, 진동 데이터들을 데이터 마이닝 하는 전 과정을 다루고 있다. 데이터 마이닝 과정은 python에서 제공하는 라이브러리를 사용하여 진행되었으며 데이터 저장, 정제, 분석 및 시각화 단계로 구성된다. 본 논문 및 이어질 후속 연구는 철도 사고 예방을 위한 아키텍처 설계에 유의미한 기여가 가능할 것이다.
건강한 한국인에서 5,10-Methylenetetrahydrofolate Reductase(MTHFR C677T와 A1298C)유전자 돌연변이 연구
김남근,강금덕,김한집,김선희,남윤성,이수만,정형민,강석호,안정용,최병옥,황성규,오도연 한국유전학회 2002 Genes & Genomics Vol.24 No.2
Genetic mutation in the MTHFR gene (C677T and A1298C) have been shown to result in reduced MTHFR activity. Elevated plasma homocysteine levels can result from defective remethylation of methylenetetrahydrofolate reductase (MTHFR). Hyperhomocysteinemia has recently been known to be an important risk factor for cerebrovascular disease. We have studied the genotype frequencies of MTHFR (C677T and A1298C) gene in 254 healthy Korean subjects without vascular diseases and cancers, aged 20 to 90 years. The frequency of subjects homozygous for the 67TTT genotype was 13.4%, and that of those homozygous for the 1298CC genotype was 2.0%. The frequency of individuals heterozygous for both mutations (677CT/1298AC genotype) was 11.9%. The highest and lowest frequency of combined MTHFR genotype was 677CT/1298AA (39.1%) and 677CC/1298CC (1.6%), respectively. Moreover, no individuals had the three combined genotypes such as 677CT/1298CC, 677TT/1298AC and 677TT/1298CC. The frequency of MTHFR 677T allele in Korean was 0.39, which is similar to Japanese (0.41), Chinese (0.40 and 0.41), higher than Caucasian (0.27∼0.37). The frequency of MTHFR 1298C allele in Korean was 0.12, which is the lowest among the populations such as Japanese (0.19), Chinese (0.17 and 0.19) and Caucasian (0.29∼0.36). And the frequency of combined normal genotype (677CC/1298AA) in Korean was 24.5%, which is higher than Japanese (15.2%), Chinese (16.4% and 18.7%) and Caucacian (10.8∼18.4%), but lower than that of South Africa (36.8%). The MTHFR C 6771 and A1298C mutation data should be useful for studying the differences of world populations, and significance of the vascular diseases as well as thrombotic disease.