Screening for G71R mutation of the UDP-glucuronosyltransferase 1 (UGT1A1) gene in neonates with pathologic and prolonged hyperbilirubinemia in Turkey.

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.

Frequencies of ADH1C alleles and genotypes in a Turkish head and neck cancer population.

Squamous cell carcinoma of the head and neck (SCCHN) have been reported to be related to both genetic and environmental factors, including alcohol consumption and alcohol-metabolizing enzymes such as alcohol dehydrogenase (ADH). We conducted a hospital-based, case-control study including 50 cases with diagnosed SCCHN and 100 controls with non-neoplastic conditions such as upper respiratory tract infection. The genomic DNA was isolated from peripheral blood leukocytes. The ADH1C*1 wild-type and ADH1C*2 variant alleles were analyzed with an RFLP method by using SspI as restriction enzyme. The ADH1C*1 allele frequencies were 0.89 (CI95% = 0.84-0.91) in controls and 0.77 (CI95% = 0.71-0.83) in cases, and respective frequencies of the ADH1C*2 allele were 0.11 (CI95% = 0.07-0.14) and 0.23 (CI95% = 0.17-0.29) among controls and cases (P = 0.01). The ADH1C*1/*1 genotype frequency was significantly higher in the control group (77%) compared to that of the cases (58%) (P = 0.02).These findings suggest that a lower presence of ADH1C*1 allele is associated with SCCHN, but larger numbers are needed to more precisely estimate the interaction, if any, with ADH1C. Interestingly, the ADH1C allele and genotype frequencies in our control group living in Denizli were significantly different compared to a previously published report from healthy volunteers living in Ankara (P < 0.0001).