Two distinct mutations at a single BamHI site in phenylketonuria
| Autor: | Baudouin François, P Verelst, Arnold Munnich, Stanislas Lyonnet, M. Berthelon, D. Melle, Françoise Rey |
|---|---|
| Rok vydání: | 1991 |
| Předmět: |
Male
Genotype Phenylalanine hydroxylase Molecular Sequence Data Genes Recessive Biology medicine.disease_cause Polymerase Chain Reaction Exon Phenylketonurias Genetics medicine Humans Allele Genetics (clinical) Mutation Chromosomes Human Pair 12 Base Sequence Deoxyribonuclease BamHI Point mutation Haplotype Chromosome Mapping Phenylalanine Hydroxylase Exons Blotting Southern biology.protein Female Restriction fragment length polymorphism Polymorphism Restriction Fragment Length Research Article |
| Zdroj: | Journal of Medical Genetics. 28:38-40 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.28.1.38 |
| Popis: | Classical phenylketonuria is an autosomal recessive disease caused by a deficiency of hepatic phenylalanine hydroxylase (PAH). The abolition of an invariant BamHI site located in the coding sequence of the PAH gene (exon 7) led to the recognition of two new point mutations at codon 272 and 273 (272gly----stop and 273ser----phe, respectively). Both mutations were detected in north eastern France or Belgium and occurred on the background of RFLP haplotype 7 alleles. The present study supports the view that the clinical heterogeneity in PKU is accounted for by the large variety of mutant genotypes associated with PAH deficiencies. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|