Morteza Bagheri1, Isa Abdi Rad1, Nima Hosseini Jazani2, Rasoul Zarrin2, Ahad Ghazavi3. 1. Research Center of Food and Beverages Safety, Urmia University of Medical Sciences, Urmia, Iran ; Department of Genetics, Urmia University of Medical Sciences, Urmia, Iran ; Cellular and Molecular Research Center, Urmia University of Medical Sciences, Urmia, Iran. 2. Research Center of Food and Beverages Safety, Urmia University of Medical Sciences, Urmia, Iran. 3. Research Center of Neurophysiology, Urmia University of Medical Sciences, Urmia, Iran.
Abstract
INTRODUCTION: We report the frequency of IVS10nt546, R261Q, S67P, R252W, and R408W mutations linked to PAH VNTR alleles in the west Azerbaijani PKU patients. MATERIAL AND METHODS: VNTR alleles and IVS10nt546, R261Q, S67P, R252W, R408W mutations were studied in a total of 20 PKU patients by PCR and RFLP-PCR. OUTCOMES: Our analysis showed that 95% of cases were homozygote for an allele containing eight-repeat VNTR (VNTR8); while 5% were homozygote for an allele containing three-repeat VNTR (VNTR3). The IVS10nt546, R252W, and R261Q mutations were associated with VNTR8 allele, and also, R252W and S67P mutations were associated with VNTR3 allele. VNTR8 was common among mutant alleles as were IVS10nt546-VNTR8 (50%), R252W-VNTR8 (2.5%), and R261Q-VNTR8 (22.5%). The association of VNTR3 was found as R252W-VNTR3 (2.5%) and S67P-VNTR3 (2.5%) among studied cases. The frequency of IVS10nt546-VNTR8/IVS10nt546-VNTR8, IVS10nt546-VNTR8/ND-VNTR8, IVS10nt546-VNTR8/R252W-VNTR8, R261Q-VNTR8/R261Q-VNTR8, R261Q-VNTR8/ND-VNTR8, and S67P-VNTR3/ R252W-VNTR3 were 30%, 35%, 5%, 20%, 5%, and 5%, respectively. R408W mutation was not found in this study. CONCLUSIONS: The present report is the first in its own kind in the west Azerbaijani population (Iran) and implies that the most common PKU mutation in this population, IVS10nt546, is exclusively associated with VNTR8 allele, and IVS10nt546-VNTR8 alleles testing should be considered for routine carrier screening and prenatal diagnostic setting.
INTRODUCTION: We report the frequency of IVS10nt546, R261Q, S67P, R252W, and R408W mutations linked to PAH VNTR alleles in the west Azerbaijani PKUpatients. MATERIAL AND METHODS: VNTR alleles and IVS10nt546, R261Q, S67P, R252W, R408W mutations were studied in a total of 20 PKUpatients by PCR and RFLP-PCR. OUTCOMES: Our analysis showed that 95% of cases were homozygote for an allele containing eight-repeat VNTR (VNTR8); while 5% were homozygote for an allele containing three-repeat VNTR (VNTR3). The IVS10nt546, R252W, and R261Q mutations were associated with VNTR8 allele, and also, R252W and S67P mutations were associated with VNTR3 allele. VNTR8 was common among mutant alleles as were IVS10nt546-VNTR8 (50%), R252W-VNTR8 (2.5%), and R261Q-VNTR8 (22.5%). The association of VNTR3 was found as R252W-VNTR3 (2.5%) and S67P-VNTR3 (2.5%) among studied cases. The frequency of IVS10nt546-VNTR8/IVS10nt546-VNTR8, IVS10nt546-VNTR8/ND-VNTR8, IVS10nt546-VNTR8/R252W-VNTR8, R261Q-VNTR8/R261Q-VNTR8, R261Q-VNTR8/ND-VNTR8, and S67P-VNTR3/ R252W-VNTR3 were 30%, 35%, 5%, 20%, 5%, and 5%, respectively. R408W mutation was not found in this study. CONCLUSIONS: The present report is the first in its own kind in the west Azerbaijani population (Iran) and implies that the most common PKU mutation in this population, IVS10nt546, is exclusively associated with VNTR8 allele, and IVS10nt546-VNTR8 alleles testing should be considered for routine carrier screening and prenatal diagnostic setting.
Entities:
Keywords:
PAH gene; PKU; VNTR alleles; west Azerbaijan
Authors: I Dianzani; S Giannattasio; L de Sanctis; C Alliaudi; P Lattanzio; C Dionisi Vici; A Burlina; M Burroni; G Sebastio; F Carnevale Journal: Eur J Hum Genet Date: 1995 Impact factor: 4.246
Authors: Orna Tighe; Donncha Dunican; Charles O'Neill; Giorgio Bertorelle; Diane Beattie; Colin Graham; Johannes Zschocke; Francesco Cali; Valentino Romano; Eva Hrabincova; Libor Kozak; Marina Nechyporenko; Ludmilla Livshits; Per Guldberg; Monika Jurkowska; Cezary Zekanowski; Belen Perez; Lourdes Ruiz Desviat; Magdalena Ugarte; Vaidutis Kucinskas; Per Knappskog; Eileen Treacy; Eileen Naughten; Linda Tyfield; Susan Byck; Charles R Scriver; Philip D Mayne; David T Croke Journal: Hum Mutat Date: 2003-04 Impact factor: 4.878