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Comparison of genotype and intellectual phenotype in untreated PKU patients.
- Source :
-
Journal of medical genetics [J Med Genet] 1993 May; Vol. 30 (5), pp. 401-5. - Publication Year :
- 1993
-
Abstract
- We have screened 55 untreated phenylketonuria patients from 42 families for common mutations of the phenylalanine hydroxylase gene and determined both causative alleles in 12 families. The correlation between genotype and intellectual phenotype of patients in these families was examined. Our results were compared to a study which predicted phenylalanine hydroxylase activity based on genotype and examined its correlation with the biochemical phenotype of treated patients. Some of the intellectual phenotypes of patients in our study correlated well with the predicted activities. However, we found one family with a genotype expected to have no activity of phenylalanine hydroxylase where the patients were not severely retarded. Major differences in intellectual phenotype were found in patients with the same genotype both between unrelated subjects and within families, suggesting that there is not a simple correlation between genotype and intellectual phenotype.
- Subjects :
- Alleles
Base Sequence
DNA analysis
DNA chemistry
Gene Frequency
Genotype
Humans
Intellectual Disability genetics
Molecular Sequence Data
Mutation
Phenotype
Phenylalanine Hydroxylase genetics
Phenylketonurias complications
Polymerase Chain Reaction
Intellectual Disability etiology
Intelligence genetics
Phenylketonurias genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0022-2593
- Volume :
- 30
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 8320703
- Full Text :
- https://doi.org/10.1136/jmg.30.5.401