0000000001110376

AUTHOR

Meral ÖZgüç

showing 2 related works from this author

Molecular Basis Of Mild Hyperphenylalaninaemia In Turkey

2000

Öz bulunamadı.

Phenylalanine hydroxylaseGenotypeTurkeyPhenylalanineDNA Mutational AnalysisMEDLINEHyperphenylalaninemiaGene FrequencyPhenylketonuriasGenotypeDNA Mutational AnalysisGeneticsmedicineHumansChildAllele frequencyGenetics (clinical)Geneticsbiologybusiness.industryInfantPhenylalanine Hydroxylasemedicine.diseasePhenotypeHuman geneticsPhenotypeChild Preschoolbiology.proteinbusiness
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The STR252-IVS10nt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples.

1997

IVS10nt546 (IVS10nt-11g→a) is the most common molecular defect of the phenylalanine hydroxylase gene causing phenylketonuria in Mediterranean populations. Previous studies have proposed various and alternative hypotheses concerning the geographical origin and pattern of diffusion of this mutation in this area. In this study, this issue was re-examined on a large sample (149) of “Mediterranean” IVS10nt546 mutant alleles analysed with multiallelic intragenic polymorphisms. The analysis of intragenic microsatellite (STR) and minisatellite (VNTR) polymorphisms shows allelic heterogeneity of the IVS10nt546 mutation. Eight STR and three VNTR alleles were found in association with the splicing def…

GeneticsMediterranean RegionHaplotypePopulation geneticsPhenylalanine HydroxylaseMinisatellite RepeatsBiologyGene flowMinisatelliteGene FrequencyHaplotypesPhenylketonuriasMutation (genetic algorithm)GeneticsMicrosatelliteHumansPoint MutationAllelic heterogeneityAlleleGenetics (clinical)Microsatellite RepeatsHuman genetics
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