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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。
Objective To investigate the relationship between neonatal hyperbilirubinemia and the first exon (G71R) mutation in the coding region of bilirubin - uridine diphosphate glucuronosyltransferase (UGT1A1) gene in Xinjiang and Han ethnic groups. Methods The Gly71Arg gene of UGT1A1 gene in 54 neonates with hyperbilirubinemia (case group) and 54 non-hyperbilirubinemia neonates (control group) was amplified by PCR, gel electrophoresis and gene sequencing. Loci genotypes were compared, and whether there was statistical difference in the frequency of the mutant alleles between the neonatal Han cases and the controls. Results The results of Hardy-Weinberg genetic balance test showed that the genotypes of Gly71Arg site of UGT1A1 gene in the newborns of Han nationality and control group were in good agreement with the expected value, which accorded with the law of genetic balance. The genotypes of Gly71Arg site of UGT1A1 gene and The distribution of alleles in cases and controls of Uighur newborns was different, and the difference was statistically significant (P <0.05), and the frequency of allele mutation in case group was higher than that of control group, the difference was statistically significant (P <0.05), but there was no significant difference in the distribution of Han neonates between the case group and the control group (P> 0.05). In addition, the risk of developing hyperbilirubinemia in neonates with Uighur neonates is 5.143 times (95%) higher than that of G / G neonates with Gly71Arg UGT1A1 mutation A / G and A / A + A / G, respectively CI = 1.299-20.360) and 6.000-fold (95% CI = 1.541-23.360). However, there was no significant difference in genotype and allele distribution of Gly71Arg site of UGT1A1 gene between the two groups in Victoria and Han nationalities (P> 0.05). Conclusion The mutation of Gly71Arg gene is associated with the occurrence of neonatal hyperbilirubinemia in Xinjiang. It may increase the risk of neonatal hyperbilirubinemia in Xinjiang, and may be more common in Uighur neonates, indicating a certain ethnic specificity , Worth further expansion of the sample size and in-depth study.