目的 探讨新疆维、汉族新生儿高胆红素血症与胆红素-尿苷二磷酸葡萄糖醛酸转移酶(UGT1A1)基因编码区第一外显子(G71R)突变类型的关系。方法 采用PCR扩增、凝胶电泳及基因测序的方法对54例高胆红素血症新生儿(病例组)和54例非高胆红素血症新生儿(对照组)的UGT1A1基因的Gly71Arg位点进行基因分型,并比较维、汉族新生儿病例组和对照组该基因的突变等位基因频率是否有统计学差异。结果 Hardy-Weinberg遗传平衡检验提示维、汉族新生儿病例组和对照组UGT1A1基因Gly71Arg位点各基因型观察值和预期值吻合度较好,符合遗传平衡定律;UGT1A1基因Gly71Arg位点各基因型和等位基因在维族新生儿的病例组和对照组中的分布是不同的,且差异有统计学意义(P＜0.05),且病例组等位基因突变频率高于对照组,差异有统计学意义(P＜0.05),而其在汉族新生儿的病例组和对照组中的分布差异无统计学意义(P＞0.05)。此外,在维族新生儿中,携带UGT1A1基因Gly71Arg突变A/G型和A/A+A/G型的新生儿发生高胆红素血症的风险分别是G/G型的5.143倍(95%CI=1.299~20.360)和6.000倍(95%CI=1.541~23.360)。但维、汉族新生儿UGT1A1基因Gly71Arg位点的基因型和等位基因的分布各组间比较差异均无统计学意义(P＞0.05)。结论 Gly71Arg基因突变与新疆新生儿高胆红素血症的发生相关,其会增加新疆新生儿患高胆红素血症的风险,且可能多见于维族新生儿,显示出一定的地区民族特异性,值得进一步扩大样本量并深入研究。

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.