Abstract
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.
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Ramus, S.J., Cotton, R.G.H. Polymorphism in the 3′ untranslated region of the phenylalanine hydroxylase gene detected by enzyme mismatch cleavage: evolution of haplotypes. Hum Genet 96, 741–743 (1995). https://doi.org/10.1007/BF00210312
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DOI: https://doi.org/10.1007/BF00210312