中国漢民族女性における変異と特発性早産卵巣不全との相関

[Correlation Between Mutation and Idiopathic Premature Ovarian Failure in Chinese Han Women].

• Wei Xiong
• Jin-Ning Rao
• Shi-Qiao Tan

抄録

目的:

メチレンテトラヒドロ葉酸還元酵素() 677C/T多型が中国漢民族女性における46,XX早産卵巣不全(POF)の有病率に関連しているかどうかを調べるために、メチレンテトラヒドロ葉酸還元酵素() 677C/T多型の解析を行った。

OBJECTIVE: To investigate whether the methylene tetrahydrofolate reductase () 677C/T polymorphisms were related to the prevalence of 46,XX premature ovarian failure (POF) in Chinese Han women.

方法:

不妊症の漢民族女性を2群に分けた。末梢血中の遺伝子発現をRT-PCRで調べた。末梢血中の遺伝子発現をRT-PCRで測定し、制限断片長多型(RFLP)により遺伝子の677C/T遺伝子型を同定した。遺伝子型頻度と対立遺伝子頻度をカウントした。PCR産物をランダムに検査し、増幅された断片が遺伝子の配列決定に使用されているかどうかを検証した。遺伝子多型と特発性POFの臨床的特徴との関係を分析した。

METHODS: Infertile Chinese Han women were divided into 2 groups: POF group (=147) and control group (=166).The expression of gene in peripheral blood was determined by RT-PCR. The 677C/T genotype of gene was identified by restriction fragment length polymorphism (RFLP). Genotype frequencies and allele frequencies were counted. PCR product were randomly examined for gene sequencing to verify whether the amplified fragment. Relationship between gene polymorphism and clinical characteristics of idiopathic POF was analyzed.

結果:

遺伝子シークエンシングの結果、PCR増幅断片が標的遺伝子断片であり、酵素表示遺伝子型と100％一致していた。POF群、対照群ともに677C/T遺伝子型分布は、Hardy-Weinbreg平衡則に一致していた（＞0.05）。677C/TのCC、CT、TT遺伝子型の頻度は、POF群で48.3％、40.8％、10.9％、対照群で37.3％、47.6％、15.1％であった。両群間の遺伝子型頻度には統計的に有意な差はなかった（＝4.04、＞0.05）。T,C対立遺伝子の頻度は、POF群で31.3％と68.7％、対照群で38.9％と61.1％であったが、両群間では有意差はなかった（=3.90、=0.05）。POF群のサブグループ分析では、閉経年齢、FSH、E2、子宮内膜厚、卵胞数においてCCとCT+TT遺伝子型の間に有意差は認められなかった。

RESULTS: The results of gene sequencing showed that the PCR amplification fragment was the target gene fragment, and the sequencing showed that the genotype was 100% consistent with the enzymatic display genotype. The 677C/T genotype distribution in both the POF group and the control group was consistent with the Hardy-Weinbreg balance law (>0.05). The frequencies of CC, CT and TT genotypes of 677C/T were 48.3%, 40.8% and 10.9% in the POF group, and 37.3%, 47.6% and 15.1% in the control group, respectively. There was no statistically significant difference in the frequency of genotypes between the two groups (=4.04, >0.05). The T, C allele frequencies were 31.3% and 68.7% in POF, 38.9% and 61.1% in control group, there were no significant differences in the frequencies of T, C alleles between the two groups (=3.90, =0.05). Subgroup analyzes in POF group, no significant difference were detected between CC and CT+TT genotypes in menopause age, FSH, E2, endometrial thickness and antral follicle number.

結論:

中国漢人POF集団における677C/T多型の分布は対照群と有意差はなく、遺伝子多型は中国人に発生した特発性POFの危険因子ではない可能性を示唆している。

CONCLUSIONS: The distribution of the 677C/T polymorphisms in Chinese Han POF population was not significantly different from controls, implying that gene polymorphisms may not be the risk factor of idiopathic POF occurred in Chinese.

Copyright© by Editorial Board of Journal of Sichuan University (Medical Science Edition).