Anna K. Börjel, Agneta Yngve, Michael Sjöström, Torbjörn K. Nilsson
Novel mutations in the 5?-UTR of the FOLR1 gene
We have previously reported two novel mutations in the 5?-untranslated region (UTR) of the gene for folate receptor-? (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-?. 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.
Clinical Chemical Laboratory Medicine, Walter de Gruyter
Print ISSN: 1434-6621
Volume: 44, 02/2006
Pages: 161 - 167
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