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Title: Carrier detection of phenylketonuria in Iranian families by variable number tandem-repeat polymorphism analysis
Authors: Hosseini Mazinani, S.M.
Koochmeshgi, J.
Khazaee Koohpar, Z.
Hosein Pur Nobari, N.
Seifati, S.M.
Issue Date: 2008
Language: English
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
Description: 1445-1451
Keywords: Phenylketonurias
Polymorphism, Genetic
Tandem Repeat Sequences
Carrier State
Carrier State
Family
Polymerase Chain Reaction
Subject: Phenylketonurias
URI: http://www.who.int/iris/handle/10665/117576
ISSN: 1020-3397
Other Identifiers: http://applications.emro.who.int/emhj/1406/14_6_2008_1445_1451.pdf
Appears in Collections:EMRO Journal Articles (EMHJ)



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