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Novel mutations in the 5'-UTR of the FOLR1 gene
Karolinska Inst, Huddinge, Sweden.ORCID iD: 0000-0002-7165-279X
2006 (English)In: Clinical Chemistry and Laboratory Medicine, ISSN 1434-6621, E-ISSN 1437-4331, Vol. 44, no 2, 161-167 p.Article in journal (Refereed) Published
Abstract [en]

We have previously reported two novel mutations in the 5'-untranslated region (UTR) of the gene for folate receptor-alpha (FOLR1). In our search for additional mutations, 92 patient samples with elevated levels of homocysteine were screened by single-strand conformation polymorphism (SSCP) between nt -425 and -782, and -712 and -1110. Between nt -425 and -782 we did not find any mutations. Between nt -712 and -1110 there were three novel mutations. One subject had two mutations very close to each other, c.-856C>T and c.-921T>C. Two subjects had a c.-1043G>A mutation. To get an idea of the prevalence of FOLR1 mutations in an unselected population, we also screened 692 healthy school children for mutations. In this cohort, between nt -188 and +272 we discovered one novel mutation, a single nucleotide substitution, c.-18C>T, in addition to five children with the 25-bp deletion mutation previously described by us. Thus, so far we have discovered six novel mutations in the 5'-UTR region of the gene for folate receptor-alpha. We genotyped all 17 subjects with a FOLR1 mutation for the methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphism, and developed new single-nucleotide polymorphism (SNP) genotyping protocols for MTHFR 1298A>C and 1793G>A utilising Pyrosequencing technology. None of the 17 subjects had the 677TT genotype, which ruled out this as a cause of elevated homocysteine levels, which was observed in some of the subjects. Further studies of mutations in the 5'-UTR of FOLR1, and in particular of their interplay with folate intake status, are warranted.

Place, publisher, year, edition, pages
2006. Vol. 44, no 2, 161-167 p.
National Category
Medical and Health Sciences
Research subject
URN: urn:nbn:se:uu:diva-304856DOI: 10.1515/CCLM.2006.029PubMedID: 16475900OAI: oai:DiVA.org:uu-304856DiVA: diva2:1034405
Available from: 2008-11-15 Created: 2016-10-11 Last updated: 2016-10-11

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Yngve, AgnetaNilsson, Torbjörn K.
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