Document Detail


Carrier detection of phenylketonuria in Iranian families by variable number tandem-repeat polymorphism analysis.
MedLine Citation:
PMID:  19161120     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
S M Hosseini-Mazinani; J Koochmeshgi; Z Khazaee-Koohpar; N Hosein-Pur-Nobari; S M Seifati
Publication Detail:
Type:  Journal Article; Validation Studies    
Journal Detail:
Title:  Eastern Mediterranean health journal = La revue de santé de la Méditerranée orientale = al-Majallah al-ṣiḥḥīyah li-sharq al-mutawassiṭ     Volume:  14     ISSN:  1020-3397     ISO Abbreviation:  East. Mediterr. Health J.     Publication Date:    2008 Nov-Dec
Date Detail:
Created Date:  2009-01-23     Completed Date:  2009-02-12     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9608387     Medline TA:  East Mediterr Health J     Country:  Egypt    
Other Details:
Languages:  eng     Pagination:  1445-51     Citation Subset:  IM    
Affiliation:
National Research Centre for Genetic Engineering and Biotechnology, Tehran, Islamic Republic of Iran. hosseini@nrcgeb.ac.ir
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MeSH Terms
Descriptor/Qualifier:
Case-Control Studies
China / epidemiology
DNA Mutational Analysis / methods
Electrophoresis, Agar Gel
Electrophoresis, Polyacrylamide Gel
Europe / epidemiology
Gene Frequency / genetics
Genetic Testing / methods*,  standards
Genetics, Population
Heterozygote
Heterozygote Detection / methods*
Humans
Iran / epidemiology
Minisatellite Repeats / genetics*
Pedigree
Phenylketonurias / diagnosis*,  epidemiology,  genetics*
Polymerase Chain Reaction / methods
Polymorphism, Genetic / genetics*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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