| Objective This study was to investigate the roles of TATA or G71R mutation of the undine 5'-diposphate-glucuronosyl transferase 1A1(UGT1A1) gene, A388G mutation of the organic anion transporter 2(OATP2), glucose-6-phosphate dehydrogenase(G-6-PD) deficiency to the development of neonatal hyperbiliidbinemia.Methods 109 blood samples had been collected for the screening of G-6-PD activity by nitro blue tetrazolium (NBT) test and identification of UGT1A1 TATA and G71R genetype by polymerase chain reaction combined with single strand conformation polymorphism (PCR-SSCP) and polymerase chain reaction combined with allele-specific oligonucleotide assay (ASO-PCR)respectively. At the same time, 101 cases were detected A388G gene types by restriction fragment length polymorphism (RFLP). All full-term neonates whose serum bilirubin related with their age equal to or more than the limit of phototherapy or considered phototherapy are diagnosed as neonatal hyperbilirubinemia. According to the genetype of TATA, G71R or A388G and G-6-PD activity, 109 neonates were allocated into different groups. We compared the incidences of hyperbilirubinemia between different groups.Results 59 neonates were belong to G-6-PD deficiency group, thereinto, 4 neonates were genotypes of G71R homozygous variation, 18 neonates were heterozygous variation, 37 neonates were wide type. The allele gene frequency of G71R was 18.64% in G-6-PD deficient group. 50 neonates were belong to G-6-PD normal group. Thereinto, 4 neonates were homozygous variations, 20 neonates were heterozygous variations, 26 neonates were wide types. The allele gene frequency of G71R was 28.0% in G-6-PD normal group. Irrespective of G71R mutation, the incidence of neonatal hyperbilirubinemia for those G-6-PD deficiency neonates was significantly higher than that of G-6-PD normal neonates, jc2=10.62, P=0.0011. The odds radio(OR) and 95% confidence interval(95%CI) offormer were 3.92 (1.69,9.10) . In UGT1A1 G71R wide type group, no significant difference was noted for the incidence of hyperbilirubinemia between G-6-PD deficient neonates and normal neonates, x~2=1.78, P=0.18. The OR(95%CI) of former was 2.02(0.31,13.33). The incidence rate of neonatal hyperbilirubinemia for those neonates who were G-6-PD deficient coexisting with the homozygous or heterozygous variant of the G71R gene was significantly higher than that of neonates who were G-6-PD normal and wide type G71R genetype, x2 =10.45, P=0.0012. The OR(95%CI) of former was 18.00(2.12,152.9).Nobody existed TATA homozygous variant among 109 neonates. 10 neonates were TATA heterozygous variation in 59 G-6-PD deficiency neonates. The allele gene frequency of TATA was 8.4% in G-6-PD deficient group. 6 neonates were TATA heterozygous variation in 50 G-6-PD normal group. The allele gene frequency of TATA was 6.0% in G-6-PD normal group. In either all neonates group(irrespective of TATA mutation) or TATA wide-type group, the incidence of neonatal hyperbilirubinemia for those G-6-PD deficiency neonates was significantly higher than that of G-6-PD normal neonates, x~2=10.62,P=0.0011, x~2=12.03, P=0.0005. The ORs and 95%CIs of former were 5.13(1.96,13.40), 3.92(1.69,9.09), respectively. In the G-6-PD deficient group, no significant difference was noted for the incidence of hyperbilirubinemia between those neonates who bearing heterozygous variant of the UGT1 Al TATA gene and those who are normal wide-types, x2=1.60, P=0.21. The OR(95%CI) of former was 1.50(0.37,6.06).55 neonates were G-6-PD deficiency group, thereinto, 2 neonates were genotypes of A388G homozygous variation, 18 neonates were heterozygous variation, 35 neonates were wide-type. The allele gene frequency of A388G was 20.0% in G-6-PD deficient group. 46 neonates were G-6-PD normal group. No one was homozygous variation, 17 neonates were heterozygous variations, and 29 neonates were wide types. The allele gene frequency of A388G was 18.5% in G-6-PD normal group. Irrespective of A388G genetype, the incidence of neonatal hyperbilirubinemia for those G-6-PD deficiency neonates was significantly higher than that of G-6-PD normal neonates, x~2=6.55, P=0.01. The OR(95%CI) of formerwas 3.92(1.69,9.10). In A388G wide type group, no significant difference was noted for the incidence of hyperbilirubinemia between G-6-PD deficient neonates and normal neonates, x~2=2.08 , P=0.15. The OR(95%CI) of former was 2.08(0.76,5.68). The incidence rate of neonatal hyperbilirubinemia for those neonates who were G-6-PD deficient coexisting with the homozygous or heterozygous variant of the A388G gene was significantly higher than that of neonates who were G-6-PD normal and wide type A388G genetype. x~2=10.39, P=0.0013. The OR(95%CI) of former was 11.8 (2.15,56.48) .Conclusion The allele gene frequencies of G71R are 18.64% in G-6-PD-deficient group, 28.0% in G-6-PD normal group. G-6-PD deficiency coexist with UGT1A1 G71R mutation in some GuangXi population. These results indicate that UGT1A1 G71R gene mutation combined with G-6-PD deficiency play a cooperation role in the development of neonatal hyperbilirubinemia. The allele gene frequencies of TATA are 8.4% in G-6-PD deficient group, 6.0% in G-6-PD normal. There is no link between UGT1A1 TATA gene mutation combined with G-6-PD deficiency and the onset of neonatal hyperbilirubinemia also. The allele gene frequencies of A388G are 20.0% in G-6-PD deficient group, 18.5% in G-6-PD normal group. G-6-PD deficiency coexist with OATP2 A388G mutation in some GuangXi population. The results indicate that A388G gene mutation combined with G-6-PD deficiency play a cooperation role to the development of neonatal hyperbilirubinemia.Objective This study was to investigate the roles of TATA or G71R mutation of the undine 5'-diposphate-glucuronosyl transferase 1A1(UGT1A1) gene -, glucose-6-phosphate dehydrogenase(G-6-PD) to the onset of neonatal hyperbilirubinemia.Methods On the first day after birth, 109 umbilical cord blood samples had been collected for the screening of G-6-PD activity by nitro blue tetrazolium (NBT) test and identification of UGT1A1 TATA and G71R genetype by polymerase chain reaction combined with single strand conformation polymorphism(PCR-SSCP) and polymerase chain reaction combined with allele-specific oligonucleotide assay (ASO-PCR), respectively. All full-term neonates whose serum bilirubin related with their age equal to or more than the limit of phototherapy or considered phototherapy are diagnosed as neonatal hyperbilirubinemia. According to G-6-PD activity and UGT1A1 genotype, 109 neonates were allocated into different groups. We compared the incidences of hyperbilirubinemia between different groups in order to ascertain the roles of these factors to neonatal hyperbilirubinemia. 10 samples were sequenced to validate the results.Results 59 neonates were belong to G-6-PD deficiency group, thereinto, 4 neonates were genotypes of G71R homozygous variation, 18 neonates were heterozygous variation, 37 neonates were wide type. The allele gene frequency of G71R was 18.64% in G-6-PD deficient group. 50 neonates were belong to G-6-PD normal group. Thereinto, 4 neonates were homozygous variations, 20 neonates were heterozygous variations, 26 neonates were wide types. The allele gene frequency of G71R was 28.0% in G-6-PD normal group. No significant differences were noted for the distribution of the G71R genotypes and the allele gene frequencies between different groups.Irrespective of G71R mutation, the incidence of neonatal hyperbilirubinemia for those G-6-PD deficiency neonates wassignificantly higher than that of G-6-PD normal neonates, x~2=10.62, P=0.0011. The odds radio(OR) and 95% confidence interval(95%CI) of former were 3.92(1.69,9.10). In UGT1A1 G71R wide type group, no significant difference was noted for the incidence of hyperbilirubinemia between G-6-PD deficient neonates and normal neonates, x2=1.78 , P=0.18. The OR(95%CI) of former was 2.02(0.31,13.33). The incidence rate of neonatal hyperbilirubinemia for those neonates who were G-6-PD deficient coexisting with the homozygous or heterozygous variant of the G71R gene was significantly higher than that of neonates who were G-6-PD normal and wide type G71R genetype, x2 =10.45, P=0.0012. The OR(95%CI) of former was 18.00(2.12,152.9). In G-6-PD normal neonates, no significant differences were noted for the incidence of hyperbilirubinemia between UGT1A1 G71R homozygous variant group, heterozygous variant group,homozygous or heterozygous variant group and G71R wild type group. The OR(95%CI) of those G-6-PD normal neonates bearing UGT1A1 G71R homozygous or heterozygous variant was 0.73(0.24,2.22).Nobody existed TATA homozygous variant among 109 neonates. 10 neonates were TATA heterozygous variation in 59 G-6-PD deficiency neonates. The allele gene frequency of TATA was 8.4% in G-6-PD deficient group. 6 neonates were TATA heterozygous variation in 50 G-6-PD normal group. The allele gene frequency of TATA was 6.0% in G-6-PD normal group. No significant differences were noted for the distribution of the TATA genotypes and the allele gene frequencies between different groups. In either all neonates group(irrespective of TATA mutation) or TATA wide-type group, the incidence of neonatal hyperbilirubinemia for those G-6-PD deficiency neonates was significantly higher than that of G-6-PD normal neonates, x~2=10.62, P=0.0011, x2=12.03, P=0.0005. The ORs and 95%CIs of former were 5.13(1.96,13.40), 3.92(1.69,9.09), respectively. In the G-6-PD deficient group, no significant difference was noted for the incidence of hyperbilirubinemia between those neonates who bearing heterozygous variant of the UGT1A1 TATA gene and those who are normal wide-types, x~2=1.60, P=0.21. The OR(95%CI) of former was 1.50(0.37,6.06). In G-6-PD normal neonates, no significant difference was noted for the incidence ofhyperbilirubinemia between UGTIAI TATA heterozygous variant group and TATA wild type group. The OR(95%CI) of former was 1.00 (0.18,5.51).Conclusion The allele gene frequencies of G71R are 18.64% in G-6-PD-deficient group, 28.0% in G-6-PD normal group. G-6-PD deficiency coexist with UGTIAI G71R mutation in some Guangxi population. Irrespective of G71R mutation, the incidences of neonatal hyperbilirubinemia for those G-6-PD deficiency neonates is significantly higher than that of G-6-PD normal neonates. In G71R wide type group, no significant difference is noted for the incidence of hyperbilirubinemia between G-6-PD deficient neonates and normal neonates. Among G-6-PD normal neonates, no significant difference is noted for the incidence of hyperbilirubinemia between G71R homozygous or heterozygous variant group and G71R wild type group. The incidence of hyperbilirubinemia for G-6-PD deficient neonates who are bearing UGTIAI G71R mutation is higher than that of G-6-PD deficient neonates with G71R wide type. These results indicate that UGTIAI G71R gene mutation combined with G-6-PD deficiency play a cooperation role in the development of neonatal hyperbilirubinemia. The allele gene frequencies of TATA are 8.4% in G-6-PD deficient group, 6.0% in G-6-PD normal. There is no relation between TATA genetype and neonatal hyperbilirubinemia. There is no link between UGTIAI TATA gene mutation combined with G-6-PD deficiency and the onset of neonatal hyperbilirubinemiaObjective This study was to investigate the role of the 0ATP2 A388G mutation coexisted with deficiency of glucose-6-phosphate dehydrogenase (G-6-PD) to the onset of neonatal hyperbilirubinemia.Methods 101 umbilical cord blood samples had been collected for neonatal screening of G-6-PD activity by NBT test and identification of OATP2 A388G mutation by restriction fragment length polymorphism (RFLP). All full-term neonates whose serum bilirubin related with their age equal to or more than the limit of phototherapy or considered phototherapy are diagnosed as neonatal hyperbilirubinemia. According to G-6-PD activity and OATP2 A388G genotype, 101 neonates were allocated into different groups. The incidences of neonatal hyperbilirubinemia in different groups were compared.Results 55 neonates were G-6-PD deficiency group, thereinto, 2 neonates were genotypes of A388G homozygous variation, 18 neonates were heterozygous variation, 35 neonates were wide-type. The allele gene frequency of A388G was 20.0% in G-6-PD deficient group. 46 neonates were G-6-PD normal group. No one was homozygous variation, 17 neonates were heterozygous variations, and 29 neonates were wide types. The allele gene frequency of A388G was 18.5% in G-6-PD normal group. No significant differences were noted for the distribution of the A388G genotypes and the allele gene frequencies between these groups. Irrespective of A388G genetype, the incidence of neonatal hyperbilirubinemia for those G-6-PD deficiency neonates was significantly higher than that of G-6-PD normal neonates, x~2=6.55, P=0.01. The OR(95%CI) of former was 3.92( 1.69,9.10). In A388G wide type group, no significant difference was noted for the incidence of hyperbilirubinemia between G-6-PD deficient neonates and normal neonates, x~2=2.08, P=0.15. The OR(95%CI) of former was 2.08(0.76,5.68). The incidence rate of neonatal hyperbilirubinemia for those neonates who were G-6-PD deficient...
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