Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/6507
Title: Screening for G71R mutation of the UDP-glucuronosyltransferase 1 (UGT1A1) gene in neonates with pathologic and prolonged hyperbilirubinemia in Turkey
Authors: Kilic, I.
Köseler, Aylin
Cakaloz, I.
Atalay, Erol Ömer
Keywords: G/R mutation
Pathologic hyperbilirubinemia
Prolonged hyperbilirubinemia
Turkish population
UGT1A1 gene
bilirubin
glucuronosyltransferase 1A1
allele
article
bilirubin blood level
controlled study
female
gene frequency
gene mutation
genetic screening
genotype
human
major clinical study
male
newborn
newborn jaundice
Turkey (republic)
Publisher: Dustri-Verlag Dr. Karl Feistle
Abstract: Objective: Whether the G71R mutation contributes to the high incidence of neonatal indirect hyperbilirubinemia in Turkey remains unknown. In this study we screened for G71R mutation of the UGT1A1 gene in prolonged and pathological hyperbilirubinemia with unexplained etiology in newborns in Turkey. Method: In this study, we screened the G71R mutation of the UGT1A1 gene in 70 Turkish newborn infants: 23 infants with pathologic hyperbilirubinemia, 24 infants with prolonged hyperbilirubinemia and 23 infants without pathologic and prolonged hyperbilirubinemia. Mutations were detected by non-radioactive dye terminator cycle sequencing. Results: In these seventy infants enrolled in this study, there were 62 with G/G (88.5 %), 8 with G/R (11.5%), and none with R/R. Two (8.7%) infants in the pathologic jaundice group and 5 (20.8 %) infants in the prolonged indirect hyperbilirubinemia, one (4.3%) infant in the control group had G/R genotype. Although G/R mutation is higher in the prolonged indirect hyperbilirubinemia group, genotypic distributions among the three groups were not statistically significant. The allele frequency of the G71R mutation was found 4.3%, 10.4%, and 2.2% in the pathologic jaundice group, in the prolonged indirect hyperbilirubinemia group, and in the control group respectively. When we compared the peak serum total bilirubin concentrations of neonates according to their genotypes, the peak bilirubin concentration was higher in G/R genotype than G/G genotype. Conclusions: G71R mutation of UGT1A1 gene is also present in Turkish population and the presence of this mutation is associated with otherwise unexplained pathological or prolonged neonatal hyperbilirubinemia in a Turkish population. ©2010 Dustri-Verlag Dr. K. Feistle.
URI: https://hdl.handle.net/11499/6507
https://doi.org/10.5414/CPP48504
ISSN: 0946-1965
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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