Abstract | OBJECTIVES: The aim of this study is to assess the prevalence of six common mutations in the Mediterranean basin and Turkey among a large group of Egyptian PKU cases BACKGROUND: METHODS: Ninety unrelated patients with PKU (180 alleles) were screened for six mutations (IVS10-11G>A, R261Q, R252W, Y277D, E221G and G272S) using polymerase chain reaction-restriction fragment length polymorphism. RESULTS: The IVS10-11G>A mutation was found in thirty alleles (17%), the R261Q in twelve (7%) and R252W in three (1.6%), while Y277D, E221G and G272S were not found in this patient group. CONCLUSION: Screening for six Mediterranean mutations identified a heterogeneous pattern among Egyptian PKU patients with a high frequency of IVS10-11 G> A (17%) (Tab. 2, Ref. 31). Full Text (Free, PDF) www.bmj.sk.
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Authors | L K Effat, M L Essawi, M S Abd El Hamid, N Hawari, Y Z Gad |
Journal | Bratislavske lekarske listy
(Bratisl Lek Listy)
Vol. 109
Issue 1
Pg. 17-9
( 2008)
ISSN: 0006-9248 [Print] Slovakia |
PMID | 18447256
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Phenylalanine Hydroxylase
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Topics |
- Egypt
- Gene Frequency
- Genetic Testing
- Humans
- Mediterranean Region
- Mutation
- Phenylalanine Hydroxylase
(genetics)
- Phenylketonurias
(genetics)
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