Carrier detection of phenylketonuria in Iranian families by variable number tandem-repeat polymorphism analysis

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...

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Published inEastern Mediterranean health journal Vol. 14; no. 6; pp. 1445 - 1451
Main Authors Hosseini-Mazinani, S M, Koochmeshgi, J, Khazaee-Koohpar, Z, Hosein-Pur-Nobari, N, Seifati, S M
Format Journal Article
LanguageEnglish
Published Egypt 01.11.2008
Subjects
Case-Control Studies
China - epidemiology
DNA Mutational Analysis - methods
Electrophoresis, Agar Gel
Electrophoresis, Polyacrylamide Gel
Europe - epidemiology
Gene Frequency - genetics
Genetic Carrier Screening - methods
Genetic Testing - methods
Genetic Testing - standards
Genetics, Population
Heterozygote
Humans
Iran - epidemiology
Minisatellite Repeats - genetics
Pedigree
Phenylketonurias - diagnosis
Phenylketonurias - epidemiology
Phenylketonurias - genetics
Polymerase Chain Reaction - methods
Polymorphism, Genetic - genetics
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Summary: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.
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ISSN:1020-3397