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대한생식의학회지 제30권 제3호 2010년
한국인 다낭성 난포증후군 환자에서 5,10-Methylenetetrahydrofolate Reductase의 677번 유전자 다형성에 관한 연구
성균관대학교 의과대학 강북삼성병원
이교원, 정유미,이숙환,윤태기,곽인평,윤선웅,최중섭,김계현,한종설,김성도,김남근,차광렬,백광현,이수만
The Study of 5,10-Methylenetetrahydrofolate Reductase Variation (MTHFR C677T) in Infertile Females with Polycystic Ovarian Syndrome (PCOS) in Korea
Lee KW
1Kangbuk Samsung Hospital, SungKyunKwan University School of Medicine
Objective: To investigate the association of genetic background between MTHFR C677T genotype and infertile females with polycystic ovarian syndrome. Materials and Methods: We compared 86 infertile females with polycystic ovarian syndrome (PCOS) with 100 healthy fertile females with one or more offspring. Pyrosequencing analysis for MTHFR C677T variation was performed on polymerase chain reaction (PCR) product of study group. To validate pyrosequencing data of C677T variation for randomly selected 50 samples, we compared the pyrosequencing result with the PCR-RFLP (Restriction Fragment Length Polymorphism) result of MTHFR C677T genotype. Results: The prevalence of the C677T mutant homozygous (TT) was significantly lower (p=0.0085) in females with PCOS (8.14%) than in fertile females (21.00%). MTHFR 677 TT genotype had a decreased risk (3.7-fold) of PCOS compared with wild type (MTHFR 677 CC). Conclusion: Our data support a role for MTHFR mutant homozygous (677 TT) genotype in reducing risk in Korean infertile females with Polycystic ovarian syndrome.
키워드 : Polycystic ovarian syndrome (PCOS), MTHFR, Pyrosequencing
교신저자 : suman@cha.ac.kr
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