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Eastern Mediterranean Health Journal
Year: 2008  |  Volume: 14  |  Issue: 6  |  Page No.: 1445 - 1451

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

Hosseini Mazinani S.M., Koochmeshgi J., Khazaee Koohpar Z., Hosein Pur Nobari N. and Seifati S.M.    

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.

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