Carrier detection of phenylketonuria in Iranian families by variable number tandem-repeat polymorphism analysis
EMHJ-Eastern Mediterranean Health Journal. 2008; 14 (6): 1445-1451
in English
| IMEMR
| ID: emr-157288
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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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Phenylketonurias
/
Polymorphism, Genetic
/
Family
/
Carrier State
/
Polymerase Chain Reaction
/
Tandem Repeat Sequences
Limits:
Humans
Language:
English
Journal:
East Mediterr Health J.
Year:
2008
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