A common mutation in 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in two Arab communities
نویسندگان
چکیده
منابع مشابه
Common Mutations of the Methylenetetrahydrofolate Reductase (MTHFR) Gene in Non-Syndromic Cleft Lips and Palates Children in North-West of Iran
Introduction: Cleft lips and cleft palates are common congenital abnormalities in children. Various chromosomal loci have been suggested to be responsible the development of these abnormalities. The present study was carried out to investigate the association between the suspected genes (methylenetetrahydrofolate reductase [MTHFR] A1298C and C677T) that might contribute into the etiology of the...
متن کاملA founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews.
Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. A novel homozygous MTHFR c.474A>T (p.G158G) mutation was detected in two unrelated children of Jewish Bukharian origin. This mutation generates an abnormal splicing and early termination codon. A carrier frequency of 1:39 (5/196) was determined among unrelated healthy Bukharian Jews. Given the disease...
متن کاملcombined choroidal neovascularization and hypopituitarism in a patient with homozygous mutation in methylenetetrahydrofolate reductase gene
we report a case of choroidal neovascularization (cnv) secondary to methylenetetrahydrofolate reductase (mthfr) gene mutation in a 20-year-old male patient with hypopituitarism. treatment with three consecutive injections of intravitreal ranibizumab (anti-vascular endothelial growth factor) resulted in significant improvement of the patient’s vision and the appearance of the macula. a search ...
متن کاملEffect of Common Methylenetetrahydrofolate Reductase Gene Mutation on Coronary Artery Disease in Familial Hypercholesterolemia Running Head: MTHFR mutation accelerates CAD in FH
Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by primary hypercholesterolemia and premature coronary artery disease (CAD). However, the development of CAD in FH shows considerable inter-individual variations. An elevated level of plasma homocysteine (tHcy) has been recognized as an independent risk factor for CAD, and a MTHFR gene mutation, valine (V) was su...
متن کاملMethylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in psoriasis in southern Turkey*
Background: Psoriasis is a multigenic and multifactorial dermatological disease linked to cardiovascular diseases. Increased levels of homocysteine in patients with psoriasis have been demonstrated in many studies. The most frequently investigated genetic defect that plays a role in homocysteine metabolism is single point substitution (C to T) located on the 677th nucleotide of the methylenetet...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Thrombosis and Haemostasis
سال: 2003
ISSN: 1538-7933,1538-7836
DOI: 10.1046/j.1538-7836.2003.00390.x