Cytology and Genetics 2012,
vol. 46,
no. 4, 227-232,
doi: https://www.doi.org/10.3103/S0095452712040032
SUMMARY. Phenylketonuria (PKU) associated mutations in phenylalanine hydroxylase (PAH) gene were identi-fied by direct DNA sequencing in 46 PKU patients and members of their families from Kemerovskaya Region and Saha Republic. Mutations found included both wide spread known mutations (R158Q, R252W, R261Q, P281L, IVS10–11G>A, R408W, IVS12+1G>A) and several rare mutations (IVS2+5G>A, R155H, Y168H, W187R, E221_D222>Efs, A342T, Y386C, IVS11+1G>C). We observed the increase in diversity of PKU-associated alleles in the populations studied, probably due to their complex mixed ethnic structure.
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