KATP ABCC8、Kri6.2基因多态性与汉族新生儿糖尿病遗传易感性的关系分析  

Analysis of the relationship between KATP gene polymorphism and genetic susceptibility of diabetes mellitus in Chinese neonates

作　　者：刘超 秦勇 王向阳 LIU Chao;QIN Yong;WANG Xiangyang(Department of Pediatrics,Rizhao Maternal and Child Health Care Hospital,Rizhao,Shandong 276800,China)

机构地区：[1]日照市妇幼保健院儿科,山东日照276800

出　　处：《中国优生与遗传杂志》2021年第8期1187-1191,共5页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨三磷酸腺苷敏感性钾通道(adenosine triphosphate-sensitive potassium,KATP)ABCC8、Kri6.2基因多态性与汉族新生儿糖尿病遗传易感性的关系。方法选取医院2015年1月—2020年12月收治的40例汉族糖尿病新生儿记为研究组,另选取42例汉族健康新生儿记为对照组。采用限制性片段长度多态性聚合酶链反应(restriction fragmentlengthpolymorphisms-polymerasechainreaction,RFLP-PCR)技术检测两组外周血细胞中ABCC8基因E16、E18、E31,Kri6.2基因E23K位点基因突变情况。对比两组检测结果;采用Logistic多元回归分析探讨KATP ABCC8、Kri6.2基因多态性与汉族新生儿糖尿病的关系。结果研究对象基因型分布符合Hardy-Weinberg遗传平衡定律(P>0.05);研究组ABCC8基因E16-3C→T、E18ACC→ACT、E31AGG→AGA突变占比高于对照组(P<0.05);两组Kri6.2基因E23K位点基因型分布差异有统计学意义(P<0.05),且研究组K等位基因频率高于对照组(P<0.05);ABCC8基因E16-3C→T、E18ACC→ACT、E31AGG→AGA突变,Kri6.2基因E23K位点基因突变,母体孕期高糖饮食均是汉族新生儿糖尿病发生的独立危险因素(P<0.05)。结论汉族糖尿病新生儿存在ABCC8基因E16-3C→T、E18ACC→ACT、E31AGG→AGA突变,Kri6.2基因E23K位点基因突变的情况,且与其遗传易感性有关。Objective To explore the relationship between the polymorphisms of ATP sensitive potassium channel(adenosine triphosphate-sensitive potassium,KATP)ABCC8 and Kri6.2 genes and the genetic susceptibility of neonatal diabetes mellitus in Han nationality.Methods From January 2015 to December 2020,40 cases of diabetic neonates in Han nationality were recorded as study group.In addition,42 healthy newborns of Han nationality were recorded as control group.The E16,E18,E31 site of ABCC8 genes and Kri6.2 gene E23 K site in two groups of peripheral blood cells were detected by polymerase chain reaction-restriction fragment length polymorphisms(PCR-RFLP)technique.The results of two groups were compared;Logistic multiple regression analysis was used to investigate the relationship between KATP ABCC8 and Kri6.2 genes polymorphism and neonatal diabetes in Han nationality.Results The genotype distribution of the subjects was consistent with the law of Hardy-Weinberg genetic balance(P>0.05).The proportion of ABCC8 gene E16-3 C→T,E18 ACC→ACT,E31 AGG→AGA mutation in the study group were higher than those in the control group(P<0.05).There was significant difference in genotype distribution of E23 K locus of Kri6.2 gene between the two groups(P<0.05),and the frequency of K allele in the study group was higher than that in the control group(P<0.05).ABCC8 gene E16-3 C→T,E18 ACC→ACT,E31 AGG→AGA mutation,Kri6.2 gene E23 K mutation,maternal high glucose diet during pregnancy were all independent risk factors for diabetes mellitus in Han nationality newborns(P<0.05).Conclusion There are ABCC8 gene E16-3 C→T,E18 ACC→ACT,E31 AGG→AGA mutations and Kri6.2 gene E23 K locus mutations in diabetic newborns in Han nationality,which are related to their genetic susceptibility.

关 键 词：三磷酸腺苷敏感性钾通道 KATP基因突变 新生儿 糖尿病 遗传易感性 

分 类 号：R722.1[医药卫生—儿科]