Genetic analysis of treated and untreated phenylketonuria in one family
| Autor: | R Primavesi, A L Meredith, J B Holton, M J Osborn, L. A. Tyfield, Peter S. Harper, T L Chambers |
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| Jazyk: | angličtina |
| Rok vydání: | 1990 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Phenylalanine hydroxylase Adolescent Phenylketonurias Phenylalanine DNA Mutational Analysis Locus (genetics) Biology Genetic analysis Genetics Humans Allele Genetics (clinical) Aged Haplotype Infant Phenylalanine Hydroxylase Pedigree Phenotype Haplotypes Mutation biology.protein Tyrosine Female Restriction fragment length polymorphism Polymorphism Restriction Fragment Length Research Article |
| Popis: | We describe a family in which four subjects in two generations have a disorder of phenylalanine metabolism. Two first cousins had different biochemical presentations in the neonatal period. The older child was thought to have a more severe form of phenylketonuria (PKU), and the younger child a milder form. While carrying out family studies we discovered that their mutual grandfather and his older unmarried brother, both of normal intelligence, had a marked and previously undiagnosed hyperphenylalaninaemia. DNA analysis using RFLP haplotypes has shown that there are four independent mutant PKU alleles in this family which are found on three haplotype patterns. None of the affected family members carries a previously defined mutation at the phenylalanine hydroxylase (PAH) locus and so DNA analysis was not able to explain the apparently different biochemical phenotypes in the affected members of this family. |
| Databáze: | OpenAIRE |
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