Interestingly, the insertion of 68bp ofC尾S gene mutation was also observed in father of one family suggesting paternal or maternal factors influencing for severemental retardation in children of consanguineous families as an independent risk factor. However, the high degree of geneticheterogeneity is ...
1.3观察指标 (1)观察病例组患者精液质量分析结 果;(2)比较两组对象MTHFR C677T基因型;(3)比较两组血清Hcy水平;(4)比较不同MTHFR C677T基因型的两组血清Hcy水平;(5)单因素分析MTHFR C677T基因型与特发性男性不育症的关系;...
因此MTHFR基因C677T位点的突变与一些妊娠并 发症有关,如胎儿神经管缺陷(NTD),复发性流产,先兆子痫,胎盘剥离等有关。通过分析个 体MTHFR基因C67H位点的多态性,对提前采取预防措施,防止妊娠并发症具有指导意义。[0003] 国家卫生计生委在2013年8月印发的《医疗机构临床检验项目目录(2013年版)》 中就明确了MTHFR(C...
Analysis was focused to mutation C677T of MTHFR gene detection and analysis of mutant genotypes frequency. Observed frequency of allele 677C was 0.6998 and allelic frequency of mutant variant 677T was 0.3992. Genotype frequency of mutant heterozygotes with 71% activity of MTHFR enzyme was 0,391...
C Aslanidis,G Schmitz - Springer Berlin Heidelberg 被引量: 4发表: 2001年 Study of A1298C MTHFR Gene Polymorphism as a Risk Factor for Neural Tube Defects in the Eastern Algerian Population As C677T mutation, A1298C mutation in methylene tetrahydrofolate reductase (MTHFR) gene results in a ...
采用上述锁核酸增敏的检测MTHFR基因C677T突变的探针和引物对步骤(1)得到的样本基因组DNA进行荧光定量PCR扩增,测出野生型探针的Ct值和突变型探针的Ct值;设定Ct值在小于35个循环数为检出阳性;则只有野生型探针检出阳性的样本为野生纯合型CC;只有突变型探针检出阳性的为突变纯合型TT;而野生型探针和突变型探针都检出...
MTHFR C677T基因多态性在孕前检查 和妊娠状态中的临床应用分析 播如月，起晨蕊，方玲• (吉林大学中日联谊医院检验科，吉林长春130033)叶酸参与生物系统R N A和D N A的合成及氨 基酸的代谢，怀孕期间由于细胞生长和增殖非常迅速.因而需要更多11]。摄取量不够或遗传因素导致叶酸的利用能力降低，都能引起机体叶酸...
Infant C677T mutation in MTHFR, maternal periconceptional vitamin use, and cleft lip. Am J Med Genet 1998;80:196-198Shaw GM,Rozen R,Finnell RH,Todoroff K,Lammer EJ.Infant C677T mutation in MTHFR,maternal periconceptional vitamin... - 《American Journal of Medical Genetics Part A》 被引...
Combined effect of GSTM1 gene deletion, GSTT1 gene deletion and MTHFR C677T mutation in male infertility. Archives of Biological Sciences. 2010;62:525–30. Article Google Scholar Naqvi H, Hussain SR, Ahmad MK, Mahdi F, Jaiswar SP, Shankhwar SN, Mahdi AA. Role of 677C–>T ...
Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the metabolism of folate to methionine Fourteen severe mutations of the MTHFR gene have been found to result in only a 0-20 percent activity of the control MTHFR protein (Goyette, 1995). A common mutation (C677T), which results...