四川德陽地區漢族女性人群MTHFR和MTRR基因多態性研究_《中國循證醫學雜志》

作者：

1. 德陽市婦幼保健院（四川德陽 618000）；2. 生物芯片上海國家工程研究中心（上海 201203）；3. 四川省保健科技學會基因與健康專業委員會（成都 610041）;

關鍵詞：

神經管缺陷葉酸亞甲基四氫葉酸還原酶甲硫氨酸合成酶還原酶基因多態性

DOI：

10.7507/1672-2531.20120103

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目的探討四川德陽地區漢族女性人群編碼葉酸代謝通路中關鍵酶的基因5,10-亞甲基四氫葉酸還原酶（MTHFR）C677T、A1298C和甲硫氨酸合成酶還原酶（MTRR）A66G位點的基因型及等位基因的頻率分布，以指導孕婦的葉酸補充。
方法采用Taqman-MGB方法對中國四川德陽地區2 573例婦女的MTHFR基因C677T、A1298C和MTRR基因A66G位點進行基因檢測，然后根據檢測結果進行大規模基因型頻率分布統計，并參考山東、河南、海南三省相關數據進行統計學比較。
結果 MTHFR基因C677T的等位基因頻率分別為63.45和36.55，MTHFR基因A1298C的等位基因頻率分別為78.20和21.80，MTRR基因A66G的等位基因頻率分別為72.81和27.19。四川地區人群與其他地區人群基因多態性分布頻率比較發現，MTHFR基因C677T、A1298C多態性分布地區差異有統計學意義（P值均 lt;0.01）。
結論本研究結果表明，MTHFR基因C677T、A1298C多態性分布具有地區差異，MTHFR多態性是孕婦生育神經管缺陷（neural tube defects，NTDs）后代的危險因素，因此基于MTHFR多態性檢測的孕期葉酸補充指導和監測將是進一步降低新生兒出生缺陷的重要方法。

引用本文： 張勇 ,朱正英,王瑋,劉玲,畢嘉,王道成,肖自力,張書雅,姜俊成,張亞林. 四川德陽地區漢族女性人群MTHFR和MTRR基因多態性研究. 中國循證醫學雜志, 2012, 12(6): 631-634. doi: 10.7507/1672-2531.20120103 復制

1.	Xiao KZ, Zhang ZY, Su YM, et al. Central nervous system congenital malformations, especially neural tube defects in 29 provinces, metropolitan cities and autonomous regions of China: Chinese Birth Defects Monitoring Program. Int J Epidemiol, 1990, 19(4): 978-82.
2.	Wang Y, Zhu J, Wu Y. Dynamic variation of incidence of neural tube defects during 1988 to 1992 in China. Zhonghua Yu Fang Yi Xue Za Zhi, 1998, 32(6): 369-371.
3.	Dai L, Zhu J, Zhou G, et al. Dynamic monitoring of neural tube defects in China during 1996 to 2000. Zhonghua Yu Fang Yi Xue Za Zhi, 2002, 36(6): 402-405.
4.	Williams JR. Folic Acid Metabolism of Human Marrow Cells. Scand J Haematol, 1965, 2: 155-166.
5.	Eskes TK. Open or closed? A world of difference: a history of homocysteine research. Nutr Rev, 1998, 56(8): 236-244.
6.	Gaughan DJ, Kluijtmans LA, Barbaux S, et al. The methionine synthase reductase (MTRR) A66G polymorphism is a novel genetic determinant of plasma homocysteine concentrations. Atherosclerosis, 2001, 157(2): 451-456.
7.	Lichtenstein MJ, Mulrow CD, Elwood PC. Guidelines for reading case-control studies. J Chronic Dis, 1987, 40(9): 893-903.
8.	賀憲民, 張群, 楊琦, 等. 亞甲基四氫葉酸還原酶和甲硫氨酸合成酶還原酶基因多態性研究. 中國計劃生育學雜志, 2010, 172(1): 13-18.
9.	Ramsbottom D, Scott JM, Molloy A, et al. Are common mutations of cystathionine beta-synthase involved in the aetiology of neural tube defects? Clin Genet, 1997, 51(1): 39-42.
10.	Northrup H, Volcik KA. Spina bifida and other neural tube defects. Curr Probl Pediatr, 2000, 30(10): 313-332.
11.	Kapur B, Soldin OP, Koren G. Potential prevention of neural tube defects by assessment of women of childbearing age through monitoring of folate. Ther Drug Monit, 2002, 24(5): 628-630.
12.	Stone DH, McCarron P, Smith GD. Similarities in the epidemiology of neural tube defects and coronary heart disease: is homocysteine the missing link? J Epidemiol Community Health, 1999, 53(12): 789-793.
13.	Berry RJ, Li Z, Erickson JD, et al. Prevention of neural-tube defects with folic acid in China. China-U.S. Collaborative Project for Neural Tube Defect Prevention. N Engl J Med, 1999, 341(20): 1485-1490.
14.	Baggott JE, Vaughn WH, Juliana MM, et al. Effects of folate deficiency and supplementation on methylnitrosourea-induced rat mammary tumors. J Natl Cancer Inst, 1992, 84(22): 1740-1744.
15.	Golbahar J, Fathi Z, Tamadon M. Distribution of 5,10-methylenetetrahydrofolate reductase (C667T) polymorphism and its association with red blood cell 5-methyltetrahydrofolate in the healthy Iranians. Clin Nutr, 2005, 24(1): 83-87.

1. Xiao KZ, Zhang ZY, Su YM, et al. Central nervous system congenital malformations, especially neural tube defects in 29 provinces, metropolitan cities and autonomous regions of China: Chinese Birth Defects Monitoring Program. Int J Epidemiol, 1990, 19(4): 978-82.
2. Wang Y, Zhu J, Wu Y. Dynamic variation of incidence of neural tube defects during 1988 to 1992 in China. Zhonghua Yu Fang Yi Xue Za Zhi, 1998, 32(6): 369-371.
3. Dai L, Zhu J, Zhou G, et al. Dynamic monitoring of neural tube defects in China during 1996 to 2000. Zhonghua Yu Fang Yi Xue Za Zhi, 2002, 36(6): 402-405.
4. Williams JR. Folic Acid Metabolism of Human Marrow Cells. Scand J Haematol, 1965, 2: 155-166.
5. Eskes TK. Open or closed? A world of difference: a history of homocysteine research. Nutr Rev, 1998, 56(8): 236-244.
6. Gaughan DJ, Kluijtmans LA, Barbaux S, et al. The methionine synthase reductase (MTRR) A66G polymorphism is a novel genetic determinant of plasma homocysteine concentrations. Atherosclerosis, 2001, 157(2): 451-456.
7. Lichtenstein MJ, Mulrow CD, Elwood PC. Guidelines for reading case-control studies. J Chronic Dis, 1987, 40(9): 893-903.
8. 賀憲民, 張群, 楊琦, 等. 亞甲基四氫葉酸還原酶和甲硫氨酸合成酶還原酶基因多態性研究. 中國計劃生育學雜志, 2010, 172(1): 13-18.
9. Ramsbottom D, Scott JM, Molloy A, et al. Are common mutations of cystathionine beta-synthase involved in the aetiology of neural tube defects? Clin Genet, 1997, 51(1): 39-42.
10. Northrup H, Volcik KA. Spina bifida and other neural tube defects. Curr Probl Pediatr, 2000, 30(10): 313-332.
11. Kapur B, Soldin OP, Koren G. Potential prevention of neural tube defects by assessment of women of childbearing age through monitoring of folate. Ther Drug Monit, 2002, 24(5): 628-630.
12. Stone DH, McCarron P, Smith GD. Similarities in the epidemiology of neural tube defects and coronary heart disease: is homocysteine the missing link? J Epidemiol Community Health, 1999, 53(12): 789-793.
13. Berry RJ, Li Z, Erickson JD, et al. Prevention of neural-tube defects with folic acid in China. China-U.S. Collaborative Project for Neural Tube Defect Prevention. N Engl J Med, 1999, 341(20): 1485-1490.
14. Baggott JE, Vaughn WH, Juliana MM, et al. Effects of folate deficiency and supplementation on methylnitrosourea-induced rat mammary tumors. J Natl Cancer Inst, 1992, 84(22): 1740-1744.
15. Golbahar J, Fathi Z, Tamadon M. Distribution of 5,10-methylenetetrahydrofolate reductase (C667T) polymorphism and its association with red blood cell 5-methyltetrahydrofolate in the healthy Iranians. Clin Nutr, 2005, 24(1): 83-87.

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四川德陽地區漢族女性人群MTHFR和MTRR基因多態性研究

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四川德陽地區漢族女性人群MTHFR和MTRR基因多態性研究

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