Haplotype analysis of classical and mild phenotype of phenylketonuria in the German Democratic Republic
- 28 June 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 34 (3) , 176-180
- https://doi.org/10.1111/j.1399-0004.1988.tb02859.x
Abstract
The restriction fragment length polymorphism (RFLP)-haplotypes have been analyzed in 16 families from the northern part of the GDR at risk for classical and mild phenylketonuria (PKU). Ten different RFLP haplotypes associated with the normal and mutant phenylalanine hydroxylase (PAH) alleles were identified. Of the 32 mutant alleles analyzed, 29 (90.6%) were associated with haplotypes 1, 2, 3 and 4; 53.1% of the mutant alleles were linked with haplotype 2. The distribution of RFLP haplotypes in 16 patients of clinical different PKU phenotypes (classical and mild) is reported.Keywords
This publication has 11 references indexed in Scilit:
- Detection of specific sequences among DNA fragments separated by gel electrophoresisPublished by Elsevier ,2006
- Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuriaHuman Genetics, 1987
- An ammo-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2Nature, 1987
- Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuriaThe Journal of Pediatrics, 1987
- Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuriaNature, 1986
- Molecular Analysis of the Inheritance of Phenylketonuria and Mild Hyperphenylalaninemia in Families with Both DisordersNew England Journal of Medicine, 1986
- Human X chromosome markers and Duchenne muscular dystrophyNucleic Acids Research, 1985
- Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuriaNature, 1983
- PHENYLKETONURIA AND OTHER PHENYLALANINE HYDROXYLATION MUTANTS IN MANAnnual Review of Genetics, 1980