Independent origin of rare Y168H mutation of human phenylalanine hydroxylase gene in Russia

Independent origin of rare Y168H mutation of human phenylalanine hydroxylase gene in Russia mutation Y168H of the human phenylalanine hydroxylase (PAH) gene determining phenylketonuria was described only twice: in a patient from Catalonia (Spain) and by us in a patient from Western Siberia (Russia). The association of Y168H in these families with allelic variants of STR and VNTR repeats and a number of neutral point polymorphisms of the PHA gene (IVS3nt-22C > T, Q232Q, V245V, L385L) was studied in this work. The Y186H mutation in these families was found to be associated with different haplotypes. Strong linkage of the selected markers and the mutation region excludes recombination as a possible cause of association of Y168H with different haplotypes. It was concluded that Y168H occurred independently in different populations. Russian Journal of Genetics Springer Journals

Independent origin of rare Y168H mutation of human phenylalanine hydroxylase gene in Russia

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SP MAIK Nauka/Interperiodica
Copyright © 2008 by MAIK Nauka
Biomedicine; Microbial Genetics and Genomics; Animal Genetics and Genomics; Human Genetics
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