新生儿非结合性高胆红素血症遗传学特征及病因相关因素分析研究

Genetic Characteristics of Neonatal Nonbinding Hyperbilirubinemia and Analysis of Related Factors

目的探讨新生儿非结合性高胆红素血症遗传学特征及病因相关因素。方法 (1)选择2015年12月-2017年12月入院治疗的新生儿非结合性高胆红素血症患者55例,设为观察组;选择同期分娩的正常新生儿55例,设为观察组。对观察组采用突变特异性扩增系统(ARMS)法检测新生儿G6PD基因突变情况及类型,分析新生儿非结合性高胆红素血症的遗传学特征;(2)进行单因素及多因素Logistic回归分析,分析新生儿非结核性高胆红素血症病因相关因素。结果对入组的110例新生儿非结核性高胆红素均完成遗传学检查,PCR结果表明:对于G1338A突变者能扩增出361bp特异性电泳带;对于G1376T突变者则可以扩增出345bp特异性电泳带。对于阴性对照组中经右601bp部位存在对照泳带。观察组55例新生儿中1388突变51例,1376突变4例;单因素结果表明:新生儿非结合性高胆红素血症发生率与性别、体重、宫内窘迫、遗传代谢病及ABO溶血发生率无统计学意义(P>0.05);新生儿非结合性高胆红素血症发生率与早产、感染、头皮血肿、围产窒息关系密切(P<0.05);多因素Logistic回归分析结果表明:新生儿非结合性高胆红素血症发生率与早产、感染、头皮血肿、围产窒息关系密切(P<0.05)。结论新生儿非结合性高胆红素血症患儿常伴有G1388A、G1376T位基因突变的主要类型,并且病因相关因素较多,临床上应根据病因相关因素制定有效的措施进行干预,降低疾病发生率。

Objective：To investigate the genetic characteristics of neonatal non-associated hyperbilirubinemia and related factors. Methods：（1）Fifty-five neonates with unconjugated hyperbilirubinemia who were admitted to hospital from December 2015 to December 2017 were selected as the observation group. Fifty-five normal neonates with the same birth were selected as Observation group. In the observation group,mutation and specific amplification system（ARMS）was used to detect the mutation and genotype of neonatal G6 PD gene,and to analyze the genetic characteristics of neonatal unconjugated hyperbilirubinemia.（2）Univariate and multivariate Logistic regression analysis of neonatal non-tuberculous hyperbilirubinemia etiology related factors. Results：A total of 110 newborns with non-tuberculous hyperbilirubin were enrolled in this study. The results of PCR showed that the G1338 A mutation could amplify a 361 bp specific electrophoresis band,and G1376 T mutation could amplify 345 bp specific electrophoresis band. For the negative control group in the right 601 bp control site there is a control band. Fifty-five newborns in observation group included 1388 mutations in 51 cases and 1376 mutations in 4 cases. The results of univariate analysis showed that the incidence of neonatal unconjugated hyperbilirubinemia was related to gender,weight,intrauterine distress,hereditary metabolic diseases and ABO hemolysis（P〈0.05）.The incidence of neonatal unconjugated hyperbilirubinemia was closely related to preterm labor,infection,scalp hematoma and perinatal asphyxia（P〈0.05）.Multivariate Logistic regression analysis The results showed that the incidence of neonatal unconjugated hyperbilirubinemia was closely related to premature delivery,infection,scalp hematoma and perinatal asphyxia（P〈0.05）. Conclusions：The neonatal nonconjugated hyperbilirubinaemia is often accompanied by the major types of G1388 A and G1376 T mutations and there are many related factors in the pathogenesis of neonatal unconjugated hyperbilirubinaemia. In clinical practice,effective measures should be taken to intervene to reduce Disease incidence.