Polymorphism in the 3′ untranslated region of the phenylalanine hydroxylase gene detected by enzyme mismatch cleavage: evolution of haplotypes
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A polymorphism was identified in 3′ untranslated region of the phenylalanine hydroxylase gene using the newly described mutation detection method, enzyme mismatch cleavage. This polymorphism, 1546 G → A, was linked to three mutations on several haplotype backgrounds. A group of haplotypes was identified as evolving from the one ancestral haplotype on which this base substitution occurred. The possible Celtic or Viking origin of this polymorphism is discussed.
KeywordsInternal Medicine Metabolic Disease Detection Method Phenylalanine Untranslated Region
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