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胱硫醚合酶基因及其在人群中的多态性 被引量：5

Cystathionine synthase gene and gene polymorphism in population
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摘要 胱硫醚合酶的活性降低或丧失是心脑血管系统等系统疾病独立的危险因子或易感因素。目前研究发现使酶活性降低或丧失的胱硫醚合酶基因的变异在人群中存在多态性。
作者 陈卓 单可人 任锡麟
机构地区 贵州省分子生物学重点实验室及贵阳医学院分子生物学重点实验室
出处 《中国优生与遗传杂志》 2005年第7期4-6,共3页 Chinese Journal of Birth Health & Heredity
基金 贵州省省长专项基金项目 (贵州少数民族隔离人群基因库的建立)资助
关键词 多态性 酶基因 人群 硫 心脑血管系统 活性降低 易感因素 危险因子 系统疾病 研究发现 丧失
分类号 Q987 [生物学—遗传学]
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参考文献24

  • 1Lievers K J, Kluijtmans LA, Heil SG, et al. Cystathionine beta - synthase polymorphisms and hyperhomocysteinaemia: an association study[ J]. Eur J Hum Genet, 2003,11 ( 1 ): 23 - 29.
  • 2Tsai MY, Yang F, Bignell M, et al. Relation between plasma homocysteine concentration, the 844ins68 variant of the eystathionine beta- synthase gene, and pyridoxal - 5' - phosphate concentration [J]. Mol Genet Metab, 1999,67(4) :352 - 356.
  • 3Munke M, Kraus JP, Ohura T, Francke U. The gene for cystathionine β - synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17[J]. Am J Hum Genet, 1988,42: 550- 559.
  • 4Bao L, Vlcek C, Paces V, et al. Identification and tissue distribution of human cystathionine β - synthase mRNA isoform[J] . Arch Biochem Biophy, 1998,350(1) :95 - 103.
  • 5Camp VM, Chipponl J, Faraj BA, et al. Radioenzymatic assay for direct measurement of plasma pyridoxal 5' - phosphate [ J ] . Clin Chem, 1983,29(4) :642 - 644.
  • 6Kery V, Bukovaskat G, Kraus jp ,et al. Transsulfuration depends on heme in addition to pyridoxal 5' - phosphate[ J]. J Biochem, 1994,269(41 ) :25 283 - 288.
  • 7Kery V, Elleder D, Greenberg DM, et al. δ - Aminolevulinate increase yield and heme saturation of human cystathionine β- synthase expressed in Escherichia coli [ J ]. Arch Biolchem Biophys, 1995,316(1):24-29.
  • 8Kashiwa mata S, Greenberg DM. Studies on cystathionine synthase of rat liver properties of the highly purified enzyme[J ]. Biochim Biophys Acta, 1970,212:488 -500.
  • 9Kluijtmans LAJ, Boers GUJ, Stevens EMB, et al. Defective cystathionine β - synthase regulation by s - adenosylmethionine in a partially pyridoxine responsive homocystinuria patient[J] .J Clin Invest,1996, 98(2) :285 -289.
  • 10Guthikonda S, Haynes WG. Homocysteine as a novel risk factor for atherosclerosis[J] .Curr Opin Cardiol, 1999,14(4) :283 - 291.

二级参考文献5

  • 1Dudnam NPB, Guo XW, Cordon RB, et al, Human homocyateine cataholism: three major Pathways and their relevance to development of arterial occlusive disease. J Nutr, 1996 128: 1295-1300.
  • 2Steegers-Theunlssen RPM, Boers GHJ, Trijbels JMF,et al. Neural tube defects and derangement of eysteine metabolism. N Engl J Med. 1991. 324: 199.
  • 3Fletcher O and Kessling AM. MTHFR association with ateriosclerotic vascular disease? Hum Genet : 1998,103:11-21.
  • 4Botto LD and Mastrojacovo P. Exploring gene-gene interactions in the edology of neural tube defects, Chin Genet.1998.53.456-459.
  • 5van der Put NMJ, Gabreels F, Stevens EMB. et al. A second common mutation in the methyJenetetrahydrofo late reductase genet an ndditional risk laetor for neural tube defects. Am 1 Hum Gene, 1998. 62 1044-1051.

共引文献25

同被引文献55

  • 1南光贤,王利平.MTHFR C677T和CBS T833C G919A基因突变与青年缺血性脑卒中的关系[J].中国实验诊断学,2007,11(11):1538-1540. 被引量：7
  • 2JUNCHENG,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
  • 3朱文丽,刀京晶,成君,李书琴,李勇.血清同型半胱氨酸及叶酸水平与先天性心脏病的关系[J].卫生研究,2005,34(6):740-743. 被引量：12
  • 4张健,卜淑霞,张静,南光贤.MTHFR C677T和CBS G919A基因突变与青年缺血性脑卒中的相关性研究[J].吉林医学,2007,28(6):727-729. 被引量：5
  • 5Ho PI, Ortiz D, Rogers E, et al. Multiple aspects of homocysteine neurotoxicity: glutamate excitotoxicity, kinase hyperactivation and DNA damage [ J ]. J Neurosic Res, 2002,70:694 -702.
  • 6Gortz P, Hoinkes A, Fleischer W, et al. Implication for homocys- teine:not homocysteine but its oxidized forms strongly inhibit neu- ronal network activity[ J ]. J Neurol Sic ,2004,218 : 109-114.
  • 7Brown AS, Bottiglieri T, Schaefer CA, et al. Elevated prenatal ho- mocysteine levels as a risk factor for schizophrenia [ J ]. Arch Gen Psychiatry, 2007,64 : 31-39.
  • 8Yoshimi A, Aleksic B, Kawamura Y, et al. Gene-wide association study between the methylenetetrahydrofolate reductase gene ( MTH- FR) and schizophrenia in the Japanese population,with an updated meta-analysis on currently available data[ J]. Schizophr Res ,2010, 124:216-222.
  • 9Feng LG, Song ZW, Xin F, et al. Association of plasma homocys- teine and methylenetetrahydrofolate reductase C677T gene variant with schizophrenia: A Chinese Han population-based case-control study [ J ]. Psychiatry Res,2009,168:205-208.
  • 10Jonsson EG, Larsson K, Vares M, et al. Two methylenetetrahydrofo- late reductase gene ( MTHFR ) polymorphisms, schizophrenia and bipolar disorder: an association study[J]. Am J Med Genet B Neu- ropsychiatr Genet,2008,147 : 976 -982.

引证文献5

二级引证文献16

中国优生与遗传杂志
2005年 第7期

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