Increased Frequency of the MTHFR A1298C Mutation in an Irish Population
نویسندگان
چکیده
منابع مشابه
Increased frequency of the MTHFR A1298C mutation in an Irish population.
To the Editor: We would like to thank Drs. Allen and Chiafari for their comments. They reiterate many of the points we made in our report (1 ). We are glad that they also had similar findings. However, they suggest that we differ in the detection of polymorphisms. In the Discussion section of our report (1 ), we speculated that our cutoff score might be too high because we observed that a polym...
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A 21 year college student came with a history of generalized tonic-clonic seizures. MR Venography revealed the presence of left sigmoid and transverse sinus thrombosis with secondary venous hemorrhagic infarcts. After thorough investigation into cause of thrombosis patient was found to have a heterozygous MTHFR A1298C mutation which was causing cerebral venous sinus thrombosis.
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C entral retinal vein occlusion (CRVO) in the young is also known as papillophlebitis and is a rare presentation.1 Retinal vein occlusion has been known to be associated with many systemic conditions.1,2 Association of hyperhomocysteinemia with retinal vein occlusion was reported in the literature.2-4 There was controversy, however, over whether there was correlation between methylenetetrahydro...
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PURPOSE Type 2 diabetes mellitus (T2DM) is the most common form of diabetes with clinical consequences giving rise to chronic multiple organ complications. Methylenetetrahydrofolate reductase (MTHFR) polymorphisms are genetic variations that have been linked to T2DM, and micro/macrovascular complications. The link between MTHFR and T2DM however is strongly dependent on the ethnic group studied....
متن کاملPrevalence of MTHFR gene polymorphisms (C677T and A1298C) among Tamilians.
We have investigated the incidence of the C677T and A1298C methylene tetrahydrofolate reductase (MTHFR) gene single nucleotide polymorphisms (SNPs) in the South Indian Tamil Nadu population with a total number of 72 individuals. The MTHFR genotyping was performed using the polymerase chain reaction followed by restriction enzyme analysis. Homozygosity for the MTHFR A1298C SNP was detected in 15...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2004
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2004.041517