中华围产医学杂志
中華圍產醫學雜誌
중화위산의학잡지
CHINESE JOURNAL OF PERINATAL MEDICINE
2009年
2期
93-97
,共5页
王文%刘福民%严晓南%陈红
王文%劉福民%嚴曉南%陳紅
왕문%류복민%엄효남%진홍
唐氏综合征%亚甲基四氢叶酸还原酶(MTHFR)%高半胱氨酸%多态现象,遗传学
唐氏綜閤徵%亞甲基四氫葉痠還原酶(MTHFR)%高半胱氨痠%多態現象,遺傳學
당씨종합정%아갑기사경협산환원매(MTHFR)%고반광안산%다태현상,유전학
Down syndrome%Methylenetetrahydrofolate reductase(MTHHFR)%Homocysteine%Polymorphism,genetic
目的 研究叶酸代谢中亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因的的遗传多态性是否与唐氏综合征(down syndrome,DS)的发生相关. 方法选择100例生育过DS患儿的汉族母亲为研究组和100例相匹配的汉族母亲为对照组,使用PCR-RFLP和MGB-Taqman实时PCR方法检测MTHFR 677和MTHFR 1298的基因型,化学发光法检测血浆同型半胱氨酸(homocysteine,HCY)的水平. 结果 MTHFR 677和MTHFR 1298一个和/或两个等位基因的变异可使生育DS患儿的风险率分别增加2.37倍(95%CI:1.32～4.27)和1.97倍(95%CI:1.04～3.75).同时合并MTHFR 677CT和1298AC/CC可使DS的发病风险率显著增高,OR=5.62(95%CI:1.86～17.03),而MTHFR 677TT合并1298AC/CC的基因型组合使OR=11.84(95%CI:1.39～100.62).研究组血浆HCY水平显著高于对照组[(9.04±3.85)μmol/L和(6.53±2.06)μmol/L,P<0.01].MTHFR 677一个和/或两个等位基因C→T的变异,使研究组和对照组HCY水平均显著增加(P<0.05).单纯存在MTHFR 1298A/C时两组血浆HCY水平无统计学差异(P>0.05).同时存在MTHFR 677CT/TT和1298AC/CC基因组合可使血浆HCY水平增高(P<0.05).结论 HCY/叶酸代谢相关基因的多态与汉族妇女生育DS患儿的风险相关,且可能存在基因的协同作用.
目的 研究葉痠代謝中亞甲基四氫葉痠還原酶(methylenetetrahydrofolate reductase,MTHFR)基因的的遺傳多態性是否與唐氏綜閤徵(down syndrome,DS)的髮生相關. 方法選擇100例生育過DS患兒的漢族母親為研究組和100例相匹配的漢族母親為對照組,使用PCR-RFLP和MGB-Taqman實時PCR方法檢測MTHFR 677和MTHFR 1298的基因型,化學髮光法檢測血漿同型半胱氨痠(homocysteine,HCY)的水平. 結果 MTHFR 677和MTHFR 1298一箇和/或兩箇等位基因的變異可使生育DS患兒的風險率分彆增加2.37倍(95%CI:1.32～4.27)和1.97倍(95%CI:1.04～3.75).同時閤併MTHFR 677CT和1298AC/CC可使DS的髮病風險率顯著增高,OR=5.62(95%CI:1.86～17.03),而MTHFR 677TT閤併1298AC/CC的基因型組閤使OR=11.84(95%CI:1.39～100.62).研究組血漿HCY水平顯著高于對照組[(9.04±3.85)μmol/L和(6.53±2.06)μmol/L,P<0.01].MTHFR 677一箇和/或兩箇等位基因C→T的變異,使研究組和對照組HCY水平均顯著增加(P<0.05).單純存在MTHFR 1298A/C時兩組血漿HCY水平無統計學差異(P>0.05).同時存在MTHFR 677CT/TT和1298AC/CC基因組閤可使血漿HCY水平增高(P<0.05).結論 HCY/葉痠代謝相關基因的多態與漢族婦女生育DS患兒的風險相關,且可能存在基因的協同作用.
목적 연구협산대사중아갑기사경협산환원매(methylenetetrahydrofolate reductase,MTHFR)기인적적유전다태성시부여당씨종합정(down syndrome,DS)적발생상관. 방법선택100례생육과DS환인적한족모친위연구조화100례상필배적한족모친위대조조,사용PCR-RFLP화MGB-Taqman실시PCR방법검측MTHFR 677화MTHFR 1298적기인형,화학발광법검측혈장동형반광안산(homocysteine,HCY)적수평. 결과 MTHFR 677화MTHFR 1298일개화/혹량개등위기인적변이가사생육DS환인적풍험솔분별증가2.37배(95%CI:1.32～4.27)화1.97배(95%CI:1.04～3.75).동시합병MTHFR 677CT화1298AC/CC가사DS적발병풍험솔현저증고,OR=5.62(95%CI:1.86～17.03),이MTHFR 677TT합병1298AC/CC적기인형조합사OR=11.84(95%CI:1.39～100.62).연구조혈장HCY수평현저고우대조조[(9.04±3.85)μmol/L화(6.53±2.06)μmol/L,P<0.01].MTHFR 677일개화/혹량개등위기인C→T적변이,사연구조화대조조HCY수평균현저증가(P<0.05).단순존재MTHFR 1298A/C시량조혈장HCY수평무통계학차이(P>0.05).동시존재MTHFR 677CT/TT화1298AC/CC기인조합가사혈장HCY수평증고(P<0.05).결론 HCY/협산대사상관기인적다태여한족부녀생육DS환인적풍험상관,차가능존재기인적협동작용.
Objective To investigate whether genetic polymorphisrns of methylenetetrahydrofolate reductase (MTHFR) contribute to the risk of Down syndrome(DS). Methods Altogether, 100 Chinese mothers who had given birth to DS babies (study group) and 100 matched mothers (control) were chosen and all were Han nationality. Genotypes of MTHFR 677 and MTHFR 1298 were determined by PCR-RFLP and MGB-Taqman resl-time PCR. The concentration of plasma homocysteine (HCY) was measured by chemilumineaence. Results The mutations of one or both alleles of MTHFR 677 and MTHFR 1298 were associated with a 2. 37-fold(95%CI: 1.19～3.05) and 1.97-fold(95%CI: 1.04～3.75) increase in the risk of having a child with DS. Combination of MTHFR 677CT and 1298AC/CC genotype had a 5. 62-fold increased risk of having a child with DS(95%Ch 1.86～17.03) and the combination of MTHFR 677TT and MTHFR 1298AC/CC genotype was significantly associated with an increased risk of DS(OR=11.84, 95%CI: 1.39～100.62). The mean plasma HCY concentration was significantly higher in the study group than that of control [(9.04±3.85) μmol/L vs (6.53±2. 06) μmol/L, P<0.01)]. The presence of 677C→T substitution in one or both alleles was associated with increased plasma HCY in both groups(P<0.05).However, MTHFR 1298A/C mutation alone did not significantly change the level of HCY in neither groups (P>0.05). Higher HCY level was found in the genotype-pairs of MTHFR 677CT/TT and 1298AC/CC (P<0.05). Conclusions Maternal genetic polymorphisms of homocysteine/folate pathway is the risk factor for DS fetus in Han nationality women in China, and a genetic synergistic effect could not be excluded.
