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Analysis of phenylalanine hydroxylase gene mutations in phenylketonuria patients from Kemerovo oblast and the Sakha Republic

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Abstract

This paper presents the results of a molecular genetic study on the phenylalanine hydroxylase (PAH) gene among phenylketonuria (PKU) patients and their family members residing in Kemerovo oblast and the Sakha Republic. To reveal the PAH gene mutations, the researchers applied exon amplification and a direct determination of their nucleotide sequences. The study has revealed both well-known mutations (R158Q, R252W, R261Q, P281L, IVS10 − 11G > A, R408W, and IVS12 + 1G > A) and some rarely encountered ones (IVS2 + 5G > A, R155H, Y168H, W187R, E221-D222 > Efs, A342T, Y386C, and IVS11 + 1G > C). Some of the studied populations with a mixed ethnic ancestry have been shown to demonstrate a wider spectrum of their PKU-associated alleles.

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Authors and Affiliations

  1. Institute of Chemical Biology and Fundamental Medicine, Siberian Branch, Russian Academy of Sciences, Novosibirsk, Russia

    O. A. Baturina, A. A. Bondar, A. E. Tupikin & I. V. Morozov

  2. Zonal Perinatal Center, Novokuznetsk, Russia

    S. G. Zhabin

Authors
  1. O. A. Baturina
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  2. A. A. Bondar
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  3. A. E. Tupikin
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  4. S. G. Zhabin
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  5. I. V. Morozov
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Correspondence to O. A. Baturina.

Additional information

Original Russian Text © O.A. Baturina, A.A. Bondar, A.E. Tupikin, S.G. Zhabin, I.V. Morozov, 2012, published in Tsitologiya i Genetika, 2012, Vol. 46, No. 4, pp. 40–47.

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Baturina, O.A., Bondar, A.A., Tupikin, A.E. et al. Analysis of phenylalanine hydroxylase gene mutations in phenylketonuria patients from Kemerovo oblast and the Sakha Republic. Cytol. Genet. 46, 227–232 (2012). https://doi.org/10.3103/S0095452712040032

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  • DOI: https://doi.org/10.3103/S0095452712040032

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