The spectrum of mutations in the <Emphasis Type="Italic">PAH</Emphasis> gene in patients with hyperphenylalaninemia from the Karachay-Cherkess Republic |
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Authors: | P Gundorova R A Zinchenko A Kh Makaov A V Polyakov |
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Institution: | 1.Research Centre for Medical Genetics,Moscow,Russia;2.Department of Molecular and Cellular Genetics,Pirogov Russian National Research Medical University,Moscow,Russia;3.Habez Central District Hospital,Habez, Karachay-Cherkess Republic,Russia |
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Abstract: | According to the neonatal screening conducted during the last nine years in Karachay-Cherkessia, the frequency of hyperphenylalaninemia (including PKU) was 1: 850 newborns, which significantly exceeded the average frequency of 1: 7000 in Russia. Analysis of DNA obtained from 25 patients with a diagnosis of “hyperphenylalaninemia” (HPA) from the Karachay-Cherkess Republic was performed to search for mutations in the PAH gene. Mutations were identified on 90% of the studied chromosomes, while at least one mutation in the PAH gene was observed in all patients. The allele frequency of a major mutation R261X was 32.5%. A correlation between genotype and phenotype was confirmed in patients with HPA. |
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