title: A simplified test to detect PKU heterozygotes by discriminant analysis in mentally retarded children and their mothers.
abstract: We have developed classification coefficients and an equation to detect heterozygotes for phenylketonuria. The combination of several variables (Phe, Phe/Tyr, Phe2/Tyr) gave a safe diagnosis in more than 96% of cases. We then computerized a random selection of our population, which was divided into two groups: the first was "selected" to compute discriminant functions, while the second, excluded from computation, was used to check the fitness of our method. Despite the reduction of sample size, 95.2% of unknown subjects were correctly classified. Finally, we used our equation to detect heterozygotes for phenylketonuria in a population of 26 children, affected by non-specific mental retardation, and their mothers. We found a high proportion of carriers for phenylketonuria, defined as subjects having a percent probability of correct classification higher than 90. By this method, heterozygosity was detected in two child-mother couples, four individual children and five mothers.
authors: Department of Pediatrics, 2nd Faculty of Medicine, University of Naples, Italy.
authors: R
authors: R
authors: Sartorio
authors: L
authors: L
authors: Greco
authors: R
authors: R
authors: Carrozzo
authors: C
authors: C
authors: Budillon
authors: G
authors: G
authors: Andria
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D008297:Male; D008957:Models, Genetic; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000175:diagnosis* / Q000235:genetics; D011336:Probability; D013223:Statistics as Topic; D014443:Tyrosine / Q000097:blood
chemical_list: D014443:Tyrosine; D010649:Phenylalanine