title: [Genetic heterogeneity and approaches to the prenatal diagnosis of phenylketonuria (review)].
abstract: Analysis of the data on structure polymorphism of phenylalanine hydroxylase in mammals including man is of importance in elucidation of the enzyme structural alterations in the patients with phenylketonuria. Molecular-genetic approaches are developed for prenatal diagnosis of hereditary diseases; approaches for studies on the phenylketonuria genetic heterogeneity have to be developed. The most promising methods for the prenatal diagnosis appear to be based on the oligonucleotide probes or on use of specific restrictases, recognizing mutant sites in the gene. This suggests that analysis of the intralocus genetic heterogeneity of phenylketonuria is one of important problems in studies of the genetic heterogeneity.
mesh_terms: D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D005819:Genetic Markers; D014644:Genetic Variation; D006801:Humans; D008099:Liver / Q000201:enzymology; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000172:deficiency / Q000235:genetics; D010661:Phenylketonurias / Q000175:diagnosis* / Q000235:genetics; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D005819:Genetic Markers; D004247:DNA; D010651:Phenylalanine Hydroxylase; D004262:DNA Restriction Enzymes
vernacular_title: Geneticheskaia geterogennost' i podkhody k prenatal'noĭ diagnostike fenilketonurii (obzor).