Access the full text.
Sign up today, get DeepDyve free for 14 days.
I. Rivera, P. Leandro, U. Lichter-Konecki (1998)
Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in PortugalJ. Med. Genet., 35
M.G. Mirisola, F. Cali, A. Gloria (2001)
PAH gene mutations in the Sicilian population: association with minihaplotypes and expression analysisMol. Genet. Metab., 74
A.A. Stepanova, S.M. Tverskaya, R.A. Zinchenko, A.V. Polyakov (2006)
Molecular genetic study of the phenylalanine hydroxylase gene in a group of Russian patients with phenylketonuriaMed. Genet., 5
K. Moradi, R. Alibakhshi, K. Ghadiri (2012)
Molecular analysis of exons 6 and 7 of phenylalanine hydroxylase gene mutations in phenylketonuria patients in Western IranIndian J. Hum. Genet., 18
L. Song, L. Dang, Y. Meng, B. Fu (2010)
Mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Tianjin and surrounding areas of Northern ChinaChin. J. Med. Genet., 27
N. Blau, A. Bélanger-Quintana, M. Demirkol (2009)
Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuriaMol. Genet. Metab., 96
R. Alibakhshi, K. Moradi, Z. Mohebbi, K. Ghadiri (2014)
Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutationsMetab. Brain Dis., 29
G.I. El’chinova, A.V. Ivanov, Yu.A. Revazova (2015)
Ethnic mariage assortativeness and intensity of metisation of KarachaysRuss. J. Genet., 51
L.C. Silva, T.S. Carvalho, F.B. Silva (2003)
Molecular characterization of phenylketonuria in South BrazilMol. Genet. Metab., 79
H. Sueoka, A. Moshinetsky, M. Nagao, S. Chiba (1999)
Mutation screening of phenylketonuria in the Far East of RussiaJ. Hum. Genet., 44
N. Blau, N. Shen, C. Carducci (2014)
Molecular genetics and diagnosis of phenylketonuria: state of the artExpert Rev. Mol. Diagn., 14
M.A. Amelina, A.A. Stepanova, A.V. Polyakov (2015)
Spectrum and frequency of mutations in PAH gene in patients with phenylketonuria from Rostov regionMed. Genet., 14
A.A. Stepanova, M.S. Sokolova, S.M. Tverskaya, A.V. Polyakov (2010)
The use of allele-specific ligation followed by amplification for recording the most frequent PAH gene mutationsMed. Genet., 11
M. Bonyadi, O. Omrani, S.M. Moghanjoghi, S. Shiva (2010)
Mutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuriaGenet. Test Mol. Biomarkers, 14
M.R. Zurfluh, J. Zschocke, M. Lindner (2008)
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiencyHum. Mutat., 29
T. Wang, Y. Okano, R.C. Eisensmith (1991)
Founder effect of a prevalent phenylketonuria mutation in the Oriental populationProc. Natl Acad. Sci. U.S.A., 88
E. Polak, A. Ficek, J. Radvanszky (2013)
Phenylalanine hydroxylase deficiency in the Slovak population: genotype–phenotype correlations and genotype-based predictions of BH4-responsivenessGene, 526
A.A. Anichkina, A.P. Gavrilyuk, S. Tverskaya, A.B. Polyakov (2003)
Analysis of the most common mutations in PAH gene among patients with phenylketonuria in a number of regions of the former Soviet UnionMed. Genet., 2
S. Zare-Karizi, S.M. Hosseini-Mazinani, Z. Khazaei-Koohpar (2011)
Mutation spectrum of phenylketonuria in Iranian populationMol. Genet. Metab., 102
J.G. Loeber (2007)
Neonatal screening in Europe; the situation in 2004J. Inherit. Metab. Dis., 30
S.A. Matulevich, L.V. Zinchenko, T.A. Golikhina, V.I. Golubtsov (2004)
Analysis of PAH gene mutations in patients with phenylketonuria in the Krasnodar regionMed. Genet., 3
A comprehensive population and medical-genetic study was carried out in ten districts and two cities in the Karachay-Cherkess Republic (Russia). As a result, 57 patients with phenylketonuria were revealed. PAH gene genotypes for 40 probands and their diseased and healthy relatives were determined. The mutation spectrum of the PAH gene in the Karachay-Cherkess Republic was investigated. The major mutation in this region is R261X with allelic frequency of 68.4%. We elaborated a convenient system for detection of six PAH gene mutations common in the Karachay-Cherkess Republic, with the total information content of the system being 89.9%. As a result of processing the clinical data, association of the diet and phenylalanine levels in the blood was verified. Genophenotypic analysis confirms the association of the residual activity of phenylalanine hydroxylase and the severity of the disease. It is shown that common mutation R261X is severe and that patients who are homozygous for this mutation have classical phenylketonuria (PKU).
Russian Journal of Genetics – Springer Journals
Published: Dec 28, 2016
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.