Document Details

Document Type : Thesis 
Document Title :
Total Homocysteine, Folate, Vitamin B12 Levels, and their Relation to 5,10-Methylenetetrahydrofolate Reductase Gene Polymorphism in Healthy Saudi Population
علاقة مستوى الهوموسستين الكلي و حمض الفوليك و فيتامين ب12 بالمتغيرات الجينية لجين ميثايلين تتراهيدروفولات ريداكتيز في سكان المملكة الأصحاء
 
Subject : Biochemistry 
Document Language : Arabic 
Abstract : The 5,10-methylenetetrahydrofolate reductase (MTHFR) gene is located on chromosome 1 at 1p36.3. The enzyme 5,10-Methylenetetrahydrofolate reductase is a major product that plays a central role in the folate cycle and contributes to the metabolism of the amino acid homocysteine. It catalyzes the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, thus generating the active form of folate required for remethylation of homocysteine to methionine. Genetic variations at the MTHFR gene locus may contribute the an increase in homocysteine level and decrease enzymatic activity. Also, low intake of both folate and vitamin B12 can affect the remethylation or transsulfuration pathways in homocysteine metabolism. The present study was designed to determine the prevalence of the MTHFR 677C>T polymorphism among healthy Saudi population (n=122) by using PCR-RFLP technique. It also analyzes the relationship between MTHFR C677T to plasma homocysteine, folate and vitamin B12 levels. Genotype analysis revealed that the relative frequency of homozygous variant (TT) in healthy Saudi individuals is 19%. The T allele frequencies for C677T polymorphism of MTHFR gene were different between males and females. Males were found to have higher T allele frequency (23%) than females (15%). The data from this study confirms that tHcy concentration is most pronounced in homozygous (TT) subjects with low folate concentration. conversely, vitamin B12 was unaffected by genotype. To the best of our knowledge, the present result is the first to evaluate in a genetically homogenous Saudi population the associations between homocysteine, folate, vitamin B12 levels and C677T polymorphism. 
Supervisor : Dr. Rowyda Al-Harithy 
Thesis Type : Master Thesis 
Publishing Year : 1430 AH
2009 AD 
Co-Supervisor : Dr. Mamdooh Gari 
Added Date : Saturday, December 4, 2010 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
عبير عبدالرحمن السفيانيAlsofyani, Abeer AbdulrahmanResearcherMaster 

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