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Novel mutations in ...
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Börjel, Anna K.
(författare)
Novel mutations in the 5'-UTR of the FOLR1 gene
- Artikel/kapitelEngelska2006
Förlag, utgivningsår, omfång ...
Nummerbeteckningar
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LIBRIS-ID:oai:DiVA.org:uu-304856
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-304856URI
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https://doi.org/10.1515/CCLM.2006.029DOI
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https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-3035URI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:1928498URI
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Språk:engelska
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Sammanfattning på:engelska
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Klassifikation
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Ämneskategori:ref swepub-contenttype
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Ämneskategori:art swepub-publicationtype
Anmärkningar
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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.
Ämnesord och genrebeteckningar
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MEDICINE
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MEDICIN
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Medicine
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Medicin
Biuppslag (personer, institutioner, konferenser, titlar ...)
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Yngve, Agneta,Professor,1953-Karolinska Institutet(Swepub:oru)aye
(författare)
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Sjöström, MichaelKarolinska Institutet
(författare)
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Nilsson, Torbjörn K.,1956-
(författare)
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Karolinska Institutet
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:Clinical Chemistry and Laboratory Medicine44:2, s. 161-1671434-66211437-4331
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