UGT1A1基因突变与多例延迟晚发特异性黄疸探索研究

An Exploratory Study of UGT1A1 Gene Mutations and Multiple Cases of Delayed onset Specific Jaundice

目的 探索研究UGT1A1基因突变与多例延迟晚发特异性黄疸的关系。方法 选取我院2022年2月1日至2023年3月1日期间临床诊断70例迁延性黄疸新生儿为观察组,65例无黄疸新生儿为对照组,采用PCR法检测Gly71Arg位点突变类型,对比两组间等位基因频率差异。结果 两组新生儿基因型分布存在差异(χ^(2)检验,P<0.05),其中突变型观察组占比48.57%(34例)显著高于对照组占比24.62%(16例)(χ^(2)检验,P<0.05);等位基因频率比较中观察组Arg基因频率(29.29%)显著高于对照组(13.85%)(χ^(2)检验,P<0.05);Gilbert综合征发病风险观察组42例(60.00%)显著高于对照组12例(18.46%)(χ^(2)检验,P<0.05);72h后观察组总胆红素均值396.37±79.15μmol/L显著高于对照组总胆红素均值305.21±41.34μmol/L(χ^(2)检验,P<0.05)。结论 UGT1A1基因Gly71Arg点突变及多态性与新生儿延迟晚发特异性黄疸有极为紧密的关联,同时由基因突变引发的Gilbert综合征也会增加新生儿迁延性黄疸的发病风险,故UGT1A1基因多态性研究具有极高的临床价值,对疾病病因寻找,早期预防、早期治疗、早期干预显得非常重要。

Objective To explore the relationship between UG T1A1 gene mutations and multiple cases of delayed onset specific jaundice.Methods From February 1,2022 to March 1,2023,70 newborns with persistent jaundice clinically diagnosed in our hospital were selected as the observation group,and 65 newborns without jaundice were selected as the control group.Conventional PCR methods were used for gene testing to compare the differences in allele frequencies between the two groups.Results There was a difference in gene division between the two groups(χ^(2),P<0.05).In the comparison of gene mutation rates,34 cases in the observation group accounted for 48.57%,while 16 cases in the control group accounted for 24.62%(χ^(2),P<0.05);The incidence of alleles(Arg)in the observation group(χ^(2),29.29%)was significantly higher control group(13.85%)(χ^(2),P<0.05);The incidence risk of Gilbert syndrome in 42 patients in the observation group(60.00%)was higher than control group(18.46%)(χ^(2),P<0.05);After 72 hours,the mean value of total bilirubin in the observation group was 396.37±79.15μmol/L is significantly higher than the mean value of total bilirubin in the control group of 305.21±41.34μmol/L(χ^(2),P<0.05).Conclusion Mutations and polymorphisms in the Gly71Arg site of the UGT1A1 gene are closely related to delayed onset of specific jaundice in newborns.At the same time,Gilbert syndrome caused by gene mutations can also increase the incidence of delayed jaundice in newborns.Therefore,the study of the polymorphism of the UG T1A1 gene has ten important clinical significance,and it is extremely important to promptly and accurately find the cause of such diseases,and carry out active prevention,early treatment,and early intervention.