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Titolo:
A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics
Autore:
Gjetting, T; Romstad, A; Haavik, J; Knappskog, PM; Acosta, AX; Silva, WA; Zago, MA; Guldberg, P; Guttler, F;
Indirizzi:
John F Kennedy Inst, DK-2600 Glostrup, Denmark John F Kennedy Inst Glostrup Denmark DK-2600 , DK-2600 Glostrup, Denmark Univ Bergen, Dept Biochem & Mol Biol, Bergen, Norway Univ Bergen Bergen Norway rgen, Dept Biochem & Mol Biol, Bergen, Norway Haukeland Hosp, Dept Med Genet, N-5021 Bergen, Norway Haukeland Hosp Bergen Norway N-5021 ept Med Genet, N-5021 Bergen, Norway Univ Sao Paulo, Fac Med, Dept Clin Med, BR-14049 Ribeirao Preto, SP, Brazil Univ Sao Paulo Ribeirao Preto SP Brazil BR-14049 beirao Preto, SP, Brazil Univ Sao Paulo, Fac Med, Reg Blood Ctr, BR-14049 Ribeirao Preto, SP, Brazil Univ Sao Paulo Ribeirao Preto SP Brazil BR-14049 beirao Preto, SP, Brazil Fed Univ Para, Dept Genet, BR-66059 Belem, PA, Brazil Fed Univ Para BelemPA Brazil BR-66059 Genet, BR-66059 Belem, PA, Brazil
Titolo Testata:
MOLECULAR GENETICS AND METABOLISM
fascicolo: 3, volume: 73, anno: 2001,
pagine: 280 - 284
SICI:
1096-7192(200107)73:3<280:APHAAP>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
SIMPLE MENDELIAN DISORDERS; MISSENSE MUTATIONS; ESCHERICHIA-COLI; COMPLEX TRAITS; PHENYLKETONURIA; HYPERPHENYLALANINEMIA; DEGRADATION; PHENOTYPE; GENOTYPE; ENZYME;
Keywords:
phenylalanine hydroxylase; phenylketonuria; amino acid polymorphism; in vitro expression;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
23
Recensione:
Indirizzi per estratti:
Indirizzo: Guttler, F John F Kennedy Inst, Gl Landevej 7, DK-2600 Glostrup, Denmark John F Kennedy Inst Gl Landevej 7 Glostrup Denmark DK-2600 ark
Citazione:
T. Gjetting et al., "A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics", MOL GEN MET, 73(3), 2001, pp. 280-284

Abstract

Mutations in the gene encoding phenylalanine hydroxylase (PAH, EC 1.14.16.1) are associated with various degrees of hyperphenylalaninemia, including classical phenylketonuria (PKU). We examined the PAM gene in a Brazilian PKU family of African origin and identified three missense variants, R252W (c.754C --> T), K274E (c.820A --> G), and I318T (c.953T --> C), the two latter of which were transmitted in cis. Expression analyses in two different invitro systems showed that I318T is associated with profoundly decreased enzyme activity, whereas the enzyme activity of K274E is indistinguishable from that of the wild-type protein. Detailed kinetic analyses of PAH expressed in E. coli showed that the K274E mutant protein has kinetic properties similar to that of the wild-type protein. Population studies have suggested that the K274E variant occurs on approximately 4% of African-American PAH alleles, whereas the neonatal screening incidence of PKU among African Americans is only 1:100,000. This is to our knowledge the first demonstration of a PAH missense variant with no apparent association to PAH deficiency. Awareness of this common variant may be helpful to laboratories that perform molecular diagnosis of PAH deficiency in populations of African origin. (C) 2001 Academic Press.

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Documento generato il 09/07/20 alle ore 01:26:11