Matches in SemOpenAlex for { <https://semopenalex.org/work/W70084737> ?p ?o ?g. }
Showing items 1 to 68 of
68
with 100 items per page.
- W70084737 abstract "The R408W mutation in the phenylalanine hydroxylase gene (PAH) is associated with haplotype 2.3 (RFLP haplotype 2, VNTR 3 of the HindIII system) in most European populations. Another chromosome, first observed in Quebec and then in northwest Europe, carries R408W on haplotype 1.8. The occurrence of the R408W mutation on two different PKU chromosomes could be the result of intragenic recombination, recurrent mutation or gene conversion. In this study, we analyzed both normal and R408W chromosomes carrying 1.8 and 2.3 haplotypes in Quebec and European populations; we used the TCTA{sub (n)} short tandem repeat sequence (STR) at the 5{prime} end of the PAH gene and the HindIII VNTR system at the 3{prime} end of the PAH gene to characterize chromosomes. Fourteen of sixteen R408W chromosomes from {open_quotes}Celtic{close_quotes} families in Quebec and the United Kingdom (UK) harbor a 244 bp STR allele; the remaining two chromosomes, carry a 240 bp or 248bp STR allele. Normal chromosomes (n=18) carry the 240 bp STR allele. R408W chromosomes are different from mutant H1.8 chromosomes; mutant H2.3 carries the 240 bp STR allele (14 of 16 chromosomes) or the 236 allele (2 of 16 chromosomes). The HindIII VNTR comprises variable numbers of 30 bp repeatsmore » (cassettes); the repeats also vary in nucleotide sequence. Variation clusters toward the 3{prime} end of cassettes and VNTRs. VNTR 3 alleles on normal H2 (n=9) and mutant R408W H2 (n=19) chromosomes were identical. VNTR 8 alleles on normal H1 chromosomes (n=9) and on R408W H1 chromosomes (n=15) differ by 1 bp substitution near the 3{prime} end of the 6th cassette. In summary, the mutant H1.8 chromosome harboring the R408W mutation has unique features at both the 5{prime} and 3{prime} end of the gene that distinguish it from the mutant H2.3 and normal H1.8 and H2.3 counterparts. The explanation for the occurrence of R408W on two different PAH haplotypes is recurrent mutation affecting the CpG dinucleotide in PAH codon 408.« less" @default.
- W70084737 created "2016-06-24" @default.
- W70084737 creator A5057165446 @default.
- W70084737 creator A5061650761 @default.
- W70084737 creator A5073952694 @default.
- W70084737 date "1994-09-01" @default.
- W70084737 modified "2023-09-23" @default.
- W70084737 title "Polymorphic haplotypes on R408BW PKU and normal PAH chromosomes in Quebec and European populations" @default.
- W70084737 hasPublicationYear "1994" @default.
- W70084737 type Work @default.
- W70084737 sameAs 70084737 @default.
- W70084737 citedByCount "0" @default.
- W70084737 crossrefType "journal-article" @default.
- W70084737 hasAuthorship W70084737A5057165446 @default.
- W70084737 hasAuthorship W70084737A5061650761 @default.
- W70084737 hasAuthorship W70084737A5073952694 @default.
- W70084737 hasConcept C104317684 @default.
- W70084737 hasConcept C128319531 @default.
- W70084737 hasConcept C135763542 @default.
- W70084737 hasConcept C151292725 @default.
- W70084737 hasConcept C153911025 @default.
- W70084737 hasConcept C168007829 @default.
- W70084737 hasConcept C180754005 @default.
- W70084737 hasConcept C189036908 @default.
- W70084737 hasConcept C197754878 @default.
- W70084737 hasConcept C30481170 @default.
- W70084737 hasConcept C54355233 @default.
- W70084737 hasConcept C86803240 @default.
- W70084737 hasConceptScore W70084737C104317684 @default.
- W70084737 hasConceptScore W70084737C128319531 @default.
- W70084737 hasConceptScore W70084737C135763542 @default.
- W70084737 hasConceptScore W70084737C151292725 @default.
- W70084737 hasConceptScore W70084737C153911025 @default.
- W70084737 hasConceptScore W70084737C168007829 @default.
- W70084737 hasConceptScore W70084737C180754005 @default.
- W70084737 hasConceptScore W70084737C189036908 @default.
- W70084737 hasConceptScore W70084737C197754878 @default.
- W70084737 hasConceptScore W70084737C30481170 @default.
- W70084737 hasConceptScore W70084737C54355233 @default.
- W70084737 hasConceptScore W70084737C86803240 @default.
- W70084737 hasLocation W700847371 @default.
- W70084737 hasOpenAccess W70084737 @default.
- W70084737 hasPrimaryLocation W700847371 @default.
- W70084737 hasRelatedWork W149985576 @default.
- W70084737 hasRelatedWork W1557510472 @default.
- W70084737 hasRelatedWork W1593595234 @default.
- W70084737 hasRelatedWork W1965396974 @default.
- W70084737 hasRelatedWork W1991882047 @default.
- W70084737 hasRelatedWork W1997060751 @default.
- W70084737 hasRelatedWork W2060796133 @default.
- W70084737 hasRelatedWork W2061961317 @default.
- W70084737 hasRelatedWork W2330151095 @default.
- W70084737 hasRelatedWork W2339282938 @default.
- W70084737 hasRelatedWork W2395083076 @default.
- W70084737 hasRelatedWork W2396336984 @default.
- W70084737 hasRelatedWork W2404508613 @default.
- W70084737 hasRelatedWork W2411415147 @default.
- W70084737 hasRelatedWork W2419184634 @default.
- W70084737 hasRelatedWork W242723618 @default.
- W70084737 hasRelatedWork W2438113805 @default.
- W70084737 hasRelatedWork W306655710 @default.
- W70084737 hasRelatedWork W3112803571 @default.
- W70084737 hasRelatedWork W1660849904 @default.
- W70084737 hasVolume "55" @default.
- W70084737 isParatext "false" @default.
- W70084737 isRetracted "false" @default.
- W70084737 magId "70084737" @default.
- W70084737 workType "article" @default.