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https://hdl.handle.net/11499/6548
Title: | A causal relationship between UDP-glucuronosyltransferase 1A1 promoter polymorphism and idiopathic hyperbilirubinemia in Turkish newborns | Authors: | Ergin, Hacer Bican, M. Atalay, Ömer Erol |
Keywords: | ABO incompatibility Breast-feeding Gilbert syndrome Glucose6-phosphate dehydrogenase deficiency Hyperbilirubinemia Promoter polymorphism adenine bilirubin genomic DNA glucuronosyltransferase 1A1 thymine article bilirubin blood level blood group ABO incompatibility breast feeding causal attribution clinical article controlled study Coombs test dinucleotide repeat DNA sequence gene frequency genetic polymorphism genotype Gilbert disease heterozygosity high risk patient homozygosity human newborn newborn jaundice polymerase chain reaction promoter region Turkey (republic) Genotype Glucuronosyltransferase Histocompatibility, Maternal-Fetal Humans Hyperbilirubinemia, Neonatal Infant, Newborn Polymorphism, Genetic Promoter Regions, Genetic Sequence Analysis, DNA |
Abstract: | The etiology of pathological jaundice can not be identified in almost half of the cases. The effect of promoter polymorphism in the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene was investigated in healthy breast-fed Turkish neonates with unexplained and direct Coombs'-negative ABO incompatible hyperbilirubinemia. Newborns whose peak serum bilirubin levels were ?17 mg/dl and ?12.9 mg/dl within the first week of life formed the idiopathic hyperbilirubinemia (n: 50) and control (n: 54) groups, respectively. Thymineadenine (TA) repeats in the promoter region of the UGT1A1 gene were investigated by polymerase chain reaction (PCR)-based non-radioactive DNA sequencing. In the idiopathic hyperbilirubinemia group, higher peak bilirubin levels, higher heterozygous and variant homozygous genotypes, higher TA7 allele frequencies, and shorter peak time were observed (p<0.001, p<0.001, p<0.001, p<0.05, respectively). In conclusion, healthy breast-fed Turkish neonates who carry heterozygous and variant homozygous genotypes in the UGT1A1 gene are at high risk of developing significant hyperbilirubinemia without additional icterogenic factors. | URI: | https://hdl.handle.net/11499/6548 | ISSN: | 0041-4301 |
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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