Homozygous MTHFR C677T gene mutation and recurrent stroke in an infant . Pediatr Neurol 2006; 35 ( 1 ):49–51Garoufi AJ, Prassouli AA, Attilakos AV, Voudris KA, Katsarou ES (2006) Homozygous MTHFR C677T gene mutation and recur- rent stroke in an infant. Pediatr Neurol 35(1):49-...
MTHFR C677T polymorphism, folic acid and hyperhomocysteinemia in levodopa treated patients with Parkinson's disease. Certain mutations (TT homozygous; CT heterozygous; CC wild-type) of the methylenetetrahydrofolate (MTHFR) gene and long-term levodopa application in patients with Parkinson's disease ...
ResultsIn this study, the frequencies of wild type (CC), heterozygous mutant (CT), and homozygous mutant (TT) of MTHFR gene C667T were 46.68%, 43.36%, and 9.96%, respectively; and the frequency of mutant allele T was 31.64%. The frequencies of TT genotype and allele T of MTHFR C667...
Heterozygosity for MTHFR 677 did not influence CRC risk (OR: 0.99; 95% CI: 0.94–1.04). These findings indicate that individuals homozygous for the MTHFR 677TT genotype are at moderately reduced risk of CRC, and support the proposal that common genetic variation in the MTHFR gene contributes ...
Homozygous TT genotype carriers for the MTHFR C677T polymorphism have 30% residual activity and heterozygous CT genotype carriers for the MTHFR C677T polymorphism have 70% residual activity of the enzyme compared to wild type CC genotype carriers. Reduction of the enzyme activity may lead to ...
An extensive metabolic investigation revealed a homozygous C677T [G80A-reduced folate carrier 1 (RFC1)] mutation in the MTHFR gene in both the affected siblings and in their healthy older brother and heterozygous mutations in the parents. None of these family members presented hyperhomocysteinemia...
C677Tsite,respectively.After hybridizationwithamplifiedDNAfragment,thehybridsweredetectedwithacolorimetricm ethodandthegenotypewere identifiedbycalculatingtheratioofabsorbentobtainedwithtWOprobes.Results:Thepolym orphismof50sampleswere analysedbythemethod.Wildtype,heterozygousandhomozygousweredetectedin15cases, 28cases...
名义上 200X 深度的全外显子测序结果，MTHFR 677,C/T 杂合 这个 200X 的全外显子测序也不能保证...
Background Stroke is a rare disorder in childhood; among its risk factors, C677T mutations in the methylenetetrahydrofolate reductase (MTHFR) gene with secondary hyperhomocysteinemia are considered.关键词: Stroke - Familial - MTHFR gene - C677T mutation - G80A RFC-1 mutation - Homocysteine DOI...
分析了65个乳腺癌患者和性别、年龄配对的143个正常对照的MTHFRc677T基因型及其对乳腺癌的相关性。结果:在正常对照中.MTHFRC677TCC、CT、,I-I.基因型频率分别为62.9%、35.08%和2.12%,lVITHFRC677TC、T基因型频率分别为:0.8040。0.1960。而在乳腺癌患者中分别为58.46%、26.15%和15.39%。lVITHFRC677TC、T...