Frequency of the IVS-10nt546 mutation in 44 Turkish phenylketonuria patients.
The newly identified point mutation in intron 10 of the phenylalanine hydroxylase gene activates a cryptic splice site and results in an in-frame insertion of nine nucleotides between exons 10 and 11 of the processed transcript. This mutation is observed in association with haplotype 6 of phenylketonuria chromosomes. Since in Turkey, haplotype 6 is observed in 40 percent of mutant phenylketonuria alleles, the aim of this study was to establish the incidence of this particular mutation. Forty-four classical phenylketonuria patients were studied and the frequency of the intron 10 splicing mutation was determined to be 31 percent.
Ozgüç
M
M
Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara.
Ozalp
I
I
Coşkun
T
T
Yilmaz
E
E
Erdem
H
H
Ayter
S
S
D000483:Alleles; D002648:Child; D002675:Child, Preschool; D005091:Exons; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007438:Introns; D008297:Male; D009154:Mutation / Q000235:genetics*; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D014421:Turkey
D010651:Phenylalanine Hydroxylase