title: Carrier detection of phenylketonuria in Iranian families by variable number tandem-repeat polymorphism analysis.
abstract: 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.
authors.affiliation: National Research Centre for Genetic Engineering and Biotechnology, Tehran, Islamic Republic of Iran. hosseini@nrcgeb.ac.ir
authors.forename: S M
authors.initials: SM
authors.lastname: Hosseini-Mazinani
authors.forename: J
authors.initials: J
authors.lastname: Koochmeshgi
authors.forename: Z
authors.initials: Z
authors.lastname: Khazaee-Koohpar
authors.forename: N
authors.initials: N
authors.lastname: Hosein-Pur-Nobari
authors.forename: S M
authors.initials: SM
authors.lastname: Seifati
mesh_terms: D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis / Q000379:methods; D004587:Electrophoresis, Agar Gel; D004591:Electrophoresis, Polyacrylamide Gel; D005060:Europe / Q000453:epidemiology; D005787:Gene Frequency / Q000235:genetics; D006580:Genetic Carrier Screening / Q000379:methods*; D005820:Genetic Testing / Q000379:methods* / Q000592:standards; D005828:Genetics, Population; D006579:Heterozygote; D006801:Humans; D007492:Iran / Q000453:epidemiology; D018598:Minisatellite Repeats / Q000235:genetics*; D010375:Pedigree; D010661:Phenylketonurias / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic / Q000235:genetics*