期刊文献+

同型半胱氨酸代谢酶基因与心脏发育关系的研究进展 被引量:1

下载PDF
导出
摘要 脊椎动物体内同型半胱氨酸(homocysteine,Hcy)的产生有两条必经途径:复甲基化形成蛋氨酸,转硫基与丝氨酸缩合生成胱硫醚。血清Hcy浓度主要由这两条代谢途径中的三个关键酶[亚甲基四氢叶酸还原酶(MTHFR)、胱硫醚β合成酶(CBS)、蛋氨酸合成酶(MS)]参与决定。在中国北方人口中MTHFR、CBS、MS突变体等位基因出现的频率依次是51.18%、7.58%、2.36%,
出处 《广东医学》 CAS CSCD 北大核心 2010年第17期2319-2321,共3页 Guangdong Medical Journal
基金 广西壮族自治区自然科学基金资助项目(编号:2010GXNSFD013054)
  • 相关文献

参考文献6

二级参考文献45

  • 1JUNCHENG,WEN-LIZHU,JING-JINGDAO,SHU-QINGLI,YONGLI.Relationship Between Polymorphism of Methylenetetrahydrofolate Dehydrogenase and Congenital Heart Defect[J].Biomedical and Environmental Sciences,2005,18(1):58-64. 被引量:8
  • 2王束玫,李绍忱,赵跃进,郝培良,贾崇奇.儿童单纯性先天性心脏病之危险因素及作用方式的探讨[J].中华流行病学杂志,1994,15(5):304-307. 被引量:16
  • 3Morita H, Kurihara H, Sugiyama T, et al. Polymorphism of the methionine synthase gene association with homocysteine metabolism and late-onset vascular diseases in the Japanese population [J]. Artefioscler Thrornb Vase Biol, 1999. 19:198-202.
  • 4Tsai MY, BigneU M,Schwichtenberg K, et al. High prevalence of a mutation in the cystathionine beta-synthase gene [J]. Am J Hum Genet, 1996, 59 : 1262 - 1267.
  • 5Akar N, Akar E, Duyguczel, et al. Common mutations at the homocystein metabolism pathway and pediatric stroke [J]. Thromb Re,2001. 102:115-120.
  • 6de Bree A, Verschuren WMM, BjOrke-Monsen AL, et al. Effect of the methylenetetrahydrofolate reductase 677CT mutation on the relations among folate intake and plasma folate and homecysteine concentrations in a general population sample[J]. Am J Clin Nutr, 2003,77,687 - 693.
  • 7Tsai MY, BigneU M, Yang F, et al. Hanson. Palygenic influence on plasma homocysteine: association of two prevalent mutations, the 844ins68 of cystathionine -synthase and A2756G of methionine synthase, with lowered plasma homocysteine levels [J]. Atherescler,2000, 149:131-137.
  • 8Wang XL,Duarte N,Cai H, et al. Relationship between total plasma homocysteine, polymorphisms of homocysteine metabolism related enzymes, risk factors and coronary artery disease in the Australian hospital-based population [J]. Atherescler, 1999, 146 : 133-140.
  • 9Kapusta L,Haagmans ML,Steegers EA。et a1.Congenital heart defects and maternal derangement of homocysteine metabolism[J].J Pediatr.1999.135:773—774.
  • 10Rosenquist TH,Ratashak SA,Selhub J.Homocystuine induces congenital defects of the heart and neural tube:effect offolic acid[J].Proc Nail Acad Sci USA.1996.93 115227—15232.

共引文献137

同被引文献15

  • 1张成森,潘旭东,刘翠薇.中国青岛汉族人群亚甲基四氢叶酸还原酶基因多态性分布研究[J].齐鲁医学杂志,2005,20(4):310-312. 被引量:10
  • 2Moyers S,Bailey LB. Fetal malformations and folate me-tabolism :review of recent evidenceQ], Nutr Rev,2001,59(7):215-224.
  • 3Reeves SG. MeLdrum C. Groombridge C, et al. MTHFR677 C>T and 1298 a>C polymorphisms and the age ofonset of colorectal cncer in hereditary nonpolyposis color-ectal cncer[J]. Eur J Hum Genet,2009,17(5) :629-635.
  • 4Weger W,Hofer A,Stanger O,et al. The methylenetetra-hydrofolate reductase 677C〉T gene polymorphism is notassociated with chronic plaque psoriasis [J]. Exp Derma-tol,2008,17(9) :748-751.
  • 5Sery O, Sramkova T,Klempova J, et al. The relationshipbetween the C677T polymorphism of the MTHFR geneand serum levels of luteinizing hormone in males with e-rectile (dysfunction[J]. Neuro Endocrinol Lett,2012,33(5):499-504.
  • 6Toffoli G,De Mattia E. Pharmacogenetic relevance ofMTHFR polymorphisms [J]. Pharmacogenomics, 2008. 9(9):1195-1206.
  • 7Spiroski I,Kedev S, Antov S, et al. Methylenetetrahydro-folate reductase ( MTHFR-6 77 and MTHFR-1298) geno-types and haplotypes and plasma homocysteine levels inpatients with occlusive artery disease and deep venousthrombosis[J]. Acta Biochim Pol,2008,55(3) :587-594.
  • 8Bhargava S,Ali A,Parakh R, et al. Higher incidence ofC677T polymorphism of the MTHFR gene in North Indi-an patients with vascular disease[J], Vascular, 2012, 20(2).88-95.
  • 9Jakovljevic K.Malisic E, Cavic M,et al. Association be-tween methylenetetrahydrofolate reductase polymorphismC677T and risk of chronic myeloid leukemia in Serbianpopulation[J]. Leuk Lymphoma,2012,53(7) : 1327-1330.
  • 10Han Y,Pan Y,Du Y,et aL Methylenetetrahydrofolate re-ductase C677T and A1298C polymorphisms and nonsyn-dromic orofacial clefts susceptibility in a southern Chinesepopulation[J].DNA Cell Biol,2011,30(12) : 1063-1068.

引证文献1

二级引证文献42

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部