关键词: 新生儿, 高胆红素血症, 尿苷二磷酸葡萄糖醛酸转移酶, 基因突变

Abstract: Objectives To investigate the relationship between neonatal hyperbilirubinemia in different nationalities and the types of gene mutation of exon l of bilirubin uridinediphosphate-glucuronosyltransferase (UGT1A1). Methods Total of 54 cases with unexplained neonatal hyperbilirubinemia and 54 neonates without neonatal hyperbilirubinemia were included.The genotypes in Gly71Arg site of UGT1A1 gene were determined by Polymerase Chain Reaction (PCR),Gel electrophoresis,and gene sequencing.Then differences between case group and control group were compared statistically. Results The Results of Hardy-Weinberg genetic balance test showed that observations and expectation values of Gly71Arg were goodness of fit in case group and control group of Uyghur and Han,which indicated that the research population was in a state of genetic equilibrium.The allele frequency of Gly71Arg mutation in the case group of Uyghur was significantly higher than that in the control group (P<0.05).But there was not significant difference in Han.Besides,the result revealed that the Gly71Arg allele carriers (A/G,A/A + A/G) were associated with the increased risk of neonatal hyperbilirubinemia when compared with the G/G allele carriers in Uyghur (OR=2.556,95%CI=1.159~5.640;OR=2.671,95%CI=1.228~5.813).But there was no significant difference between Uyghur and Han. Conclusions The Gly71Arg mutation of UGT1A1 gene is associated with hyperbilirubinemia of neonatal in Xinjiang,and it will increase the risk of neonatal hyperbilirubinemia.At the same time,it may be more frequently found among Uyghur newborns.So there may be some nationality specificity,which is valuable to deeply study.   

Key words: neonatal, hyperbilirubinemia, uridinediphosphate-glucuronosyltransferase, genic mutation