实用口腔医学杂志
實用口腔醫學雜誌
실용구강의학잡지
JOURNAL OF PRACTICAL STOMATOLOGY
2015年
1期
96-100
,共5页
南欣荣%任一雄%李瑞芳%王江波
南訢榮%任一雄%李瑞芳%王江波
남흔영%임일웅%리서방%왕강파
亚甲基四氢叶酸还原酶(MTHFR)%亚甲基四氢叶酸脱氢酶 1(MTHFD1)%多态性%非综合征性唇腭裂(NSCL/P)
亞甲基四氫葉痠還原酶(MTHFR)%亞甲基四氫葉痠脫氫酶 1(MTHFD1)%多態性%非綜閤徵性脣腭裂(NSCL/P)
아갑기사경협산환원매(MTHFR)%아갑기사경협산탈경매 1(MTHFD1)%다태성%비종합정성진악렬(NSCL/P)
Methylenetetrahydrofolate reductase(MTHFR)%Methylenetetrahydrofolate dehydrogenase 1(MTH-FD1)%Polymorphism%Non-syndromic cleft lip with cleft palate(NSCL/P)
目的：研究叶酸代谢相关基因 MTHFR 基因 rsl801133、MTHFD1基因 rs2236225位点多态性与非综合征性唇腭裂（NSCL／P）的关系。方法：通过聚合酶链反应-限制性片段长度多态性方法，检测265例 NSCL／P 患者和276例正常对照者的 MTHFR 基因 rsl801133、MTHFD1基因 rs2236225位点的多态性。结果：MTHFR 基因 rsl801133位点、MTHFD1基因rs2236225位点的基因型频率分布符合 Hardy-Weinberg 平衡；MTHFR 基因 rsl801133位点、MTHFD1基因 rs2236225位点的等位基因频率分布在 NSCL／P 组与对照组之间差异无统计学意义（P ＞0．05）。结论：MTHFR 基因 rsl801133位点、MTHFD1基因 rs2236225位点的多态性与 NSCL／P 的发生无关。
目的：研究葉痠代謝相關基因 MTHFR 基因 rsl801133、MTHFD1基因 rs2236225位點多態性與非綜閤徵性脣腭裂（NSCL／P）的關繫。方法：通過聚閤酶鏈反應-限製性片段長度多態性方法，檢測265例 NSCL／P 患者和276例正常對照者的 MTHFR 基因 rsl801133、MTHFD1基因 rs2236225位點的多態性。結果：MTHFR 基因 rsl801133位點、MTHFD1基因rs2236225位點的基因型頻率分佈符閤 Hardy-Weinberg 平衡；MTHFR 基因 rsl801133位點、MTHFD1基因 rs2236225位點的等位基因頻率分佈在 NSCL／P 組與對照組之間差異無統計學意義（P ＞0．05）。結論：MTHFR 基因 rsl801133位點、MTHFD1基因 rs2236225位點的多態性與 NSCL／P 的髮生無關。
목적：연구협산대사상관기인 MTHFR 기인 rsl801133、MTHFD1기인 rs2236225위점다태성여비종합정성진악렬（NSCL／P）적관계。방법：통과취합매련반응-한제성편단장도다태성방법，검측265례 NSCL／P 환자화276례정상대조자적 MTHFR 기인 rsl801133、MTHFD1기인 rs2236225위점적다태성。결과：MTHFR 기인 rsl801133위점、MTHFD1기인rs2236225위점적기인형빈솔분포부합 Hardy-Weinberg 평형；MTHFR 기인 rsl801133위점、MTHFD1기인 rs2236225위점적등위기인빈솔분포재 NSCL／P 조여대조조지간차이무통계학의의（P ＞0．05）。결론：MTHFR 기인 rsl801133위점、MTHFD1기인 rs2236225위점적다태성여 NSCL／P 적발생무관。
Objective:To investigate the association of the rsl801133 polymorphisms of the methylenetetrahydrofolate reductase (MTHFR)gene and rs2236225 polymorphisms of the methylenetetrahydrofolate dehydrogenase(MTHFD1)gene with non-syndromic cleft lip with or without cleft palate (NSCL/P)in Chinese population of Shanxi Province.Methods:The rsl801133 polymorphism of MTHFR gene and rs2236225 polymorphism of MTHFD1 gene were examined by PCR-RFLP in 265 patients with NSCL/P and 276 healthy controls.Data were statistically analysed.Results:The genotypic distribution of rsl801133 and rs2236225 was not deviated from the Hardy-Weinberg equilibrium.There was no significant difference in allele frequencies of rsl801133 and rs2236225 variants between patients with NSCL/P and healthy individuals(P <0.05).Conclusion:The polymorphism of MTHFR gene and MTHFD1 gene was not associated with NSCL/P in Chinese population of Shanxi Province.
