This study of Iranian families assessed the usefulness of carrier detection of phenylketonuria by variable number tandem-repeat (VNTR) polymorphism analysis. We studied 171 people (45 unrelated PKU subjects, and their parents and unaffected siblings). Of 342 chromosomes (131 non-PKU and 211 PKU), 5 VNTR alleles were identified. This VNTR system would yield a polymorphism information content of 66%, comparable to that in Europeans and higher than in Chinese. Carrier detection by segregation analysis of VNTR was informative in 89.5% of siblings. We conclude that this polymorphism is highly informative in carrier detection of PKU in the Iranian population.
Genetic Carrier Screening/methods , Genetic Testing/methods , Minisatellite Repeats/genetics , Phenylketonurias/diagnosis , Phenylketonurias/genetics , Polymorphism, Genetic/genetics , Case-Control Studies , China/epidemiology , DNA Mutational Analysis/methods , Electrophoresis, Agar Gel , Electrophoresis, Polyacrylamide Gel , Europe/epidemiology , Gene Frequency/genetics , Genetic Testing/standards , Genetics, Population , Heterozygote , Humans , Iran/epidemiology , Pedigree , Phenylketonurias/epidemiology , Polymerase Chain Reaction/methods
This study of Iranian families assessed the usefulness of carrier detection of phenylketonuria by variable number tandem-repeat [VNTR] polymorphism analysis. We studied 171 people [45 unrelated PKU subjects, and their parents and unaffected siblings]. Of 342 chromosomes [131 non-PKU and 211 PKU], 5 VNTR alleles were identified. This VNTR system would yield a polymorphism information content of 66%, comparable to that in Europeans and higher than in Chinese. Carrier detection by segregation analysis of VNTR was informative in 89.5% of siblings. We conclude that this polymorphism is highly informative in carrier detection of PKU in the Iranian population
Phenylketonurias , Polymorphism, Genetic , Tandem Repeat Sequences , Carrier State , Family , Polymerase Chain Reaction
