Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families
- 1 August 1989
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 36 (2) , 117-121
- https://doi.org/10.1111/j.1399-0004.1989.tb03173.x
Abstract
We have estimated the haplotype distribution of mutant and normal phenylalanine hydroxylase (PAH) alleles for 17 Turkish phenylketonuria (PKU) families: 20 normal and 27 mutated PAH alleles could be identified. Of the latter, the most prevalent were associated with haplotype 6 (29.6%), 1 (18.5%) and 36 (11.1%), while the normal alleles were preferentially associated with haplotype 1 (20%). Of the 19 different haplotypes observed, 5 have not been described previously. The haplotype distribution differed significantly from that of the Northern European population. Two of the eight polymorphic sites were in association with PKU. No deletions of exon sequences were found in the families analysed.Keywords
This publication has 14 references indexed in Scilit:
- DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish populationHuman Genetics, 1989
- Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German populationHuman Genetics, 1988
- Linkage disequilibrium between RFLP haplotype 2 and the affected PAH allele in PKU families from the Berlin area of the German Democratic RepublicHuman Genetics, 1988
- An ammo-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2Nature, 1987
- Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuriaNature, 1986
- Typing of families with classical phenylketonuria using three alleles of the Hindlll linked restriction fragment polymorphism, detectable with a phenylalanine hydroxylase cDNA probeClinical Genetics, 1986
- Incidence of phenylketonuria and hyperphenylalaninaemia in a sample of the Turkish newborn populationJournal of Inherited Metabolic Disease, 1986
- Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylaseBiochemistry, 1985
- Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuriaNature, 1983