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Your search keyword '"Blom, Henk J."' showing total 9 results
Start Over Author "Blom, Henk J." Journal european journal of human genetics
9 results on '"Blom, Henk J."'

9. Molecular genetic analysis of the human dihydrofolate reductase gene: relation with plasma total homocysteine, serum and red blood cell folate levels.

Author

Gellekink, Henkjan, Blom, Henk J., Van der Linden, I. J. M., and Den Heijer, Martin

Subjects
*FOLIC acid, *HUMAN genetic variation, *HOMOCYSTEINE, *SULFUR amino acids, *CARDIOVASCULAR diseases, *HUMAN genetics
Abstract

Disturbances in folate metabolism may increase the risk of certain malignancies, congenital defects and cardiovascular diseases. The gene dihydrofolate reductase (DHFR) is primarily involved in the reduction of dihydrofolate, generated during thymidylate synthesis, to tetrahydrofolate in order to maintain adequate amounts of folate for DNA synthesis and homocysteine remethylation. In order to reveal possible variation that may affect plasma total homocysteine (tHcy), serum folate and red blood cell (RBC) folate levels, we sequenced the DHFR coding region as well as the intron–exon boundaries and DHFR flanking regions from 20 Caucasian individuals. We identified a 9-bp repeat in the 5′-upstream region that partially overlapped with the 5′-untranslated region, and several single-nucleotide polymorphisms, all in non-coding regions. We screened subjects for the 9-bp repeat (n=417), as well as the recently reported 19-bp deletion in intron 1 (n=330), and assessed their associations with plasma tHcy, serum and RBC folate levels. The 19-bp del/del genotype was associated with a lower plasma tHcy (−14.4% [95% confidence interval: −23.5 to −4.5], P=0.006) compared with the wild-type genotype. This may suggest that intracellular folate levels are affected.European Journal of Human Genetics (2007) 15, 103–109. doi:10.1038/sj.ejhg.5201713; published online 13 September 2006 [ABSTRACT FROM AUTHOR]

Published
2007
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