云南省婴儿期不同民族高非结合性胆红素血症UGT1A1基因多态性研究  

Study on the Polymorphism of UGT1A1 Gene in Unconjugated Hyperbilirubinemia of Different Nationalities in Yunnan Province during Infancy

作　　者：奎莉越[1] 王明英[1] 周百灵[1] 李莉[1] 贺晓莉 世淑兰 沈茹[1] KUI Liyue;WANG Mingying;ZHOU Bailing;LI Li HE Xiaoli;SHI Shulan;SHEN Ru(Department of clinical laboratory Kunming Children's hospital,Kunming,Yunnan,China 560000)

机构地区：[1]昆明市儿童医院检验科,昆明云南560000

出　　处：《分子诊断与治疗杂志》2020年第3期386-390,共5页Journal of Molecular Diagnostics and Therapy

基　　金：昆明市卫计委课题(2017 11 01 017)。

摘　　要：目的研究云南省婴儿期不同民族高非结合性胆红素血症UGT1A1基因多态性研究。方法收集怒江、保山、临沧、迪庆云南边界地区2018年1月至2019年11月就诊于本院新生儿科及消化内科门诊确诊的GS和CNS患儿67例(观察组,基因检测均阳性),并选取同期健康体检婴儿67例作为对照组。比较两组UGT1A1基因突变位点基因型与等位基因频率分布,采用Spearman分析UGT1A1基因突变与非溶血性非结合型高胆红素血症的相关性,比较不同性别、民族患儿UGT1A1基因变异谱。结果观察组c.211G>A、c.1456T>G、c.1061C>T位点突变率分别为62.69%、62.69%、47.77%,高于对照组的14.93%、2.99%、7.46%(P<0.05),组间基因型频率和等位基因频率比较,差异具有统计学意义(P<0.05)。c.211G>A、c.1456T>G、c.1061C>T杂合与纯合突变均与非溶血性非结合型高胆红素血症呈正相关(P<0.05);汉族患儿c.211G>A、c.1456T>G、c.1061C>T杂合突变型均高于少数民族患儿,汉族患儿c.1456T>G纯合突变型频率低于少数民族患儿(P<0.05)。结论云南地区婴儿期高非结合性胆红素血症发病与UGT1A1基因c.211G>A、c.1456T>G、c.1061C>T位点突变有关,c.1456T>G纯合突变集中体现在少数民族中,c.211G>A、c.1456T>G、c.1061C>T复合杂合突变致病主要集中在汉族人群。Objective To study the Unconjugated hyperbilirubinemia UGT1 A1 gene polymorphism in different ethnic groups in Yunnan Province during infancy. Methods A total of 67 infants with GS and CNS diagnosed in the neonatal and digestive medicine clinics of our hospital from January 2018 to November 2019 in the border areas of Nujiang,Baoshan,Lincang,and Diqing Yunnan were collected(observation group,genetic tests were positive),and 67 healthy infants in the same period were selected as the control group. Compared the genotype and allele frequency distribution of the UGT1 A1 mutation site in the two groups. Spearman analysis was performed to study the correlation between UGT1 A1 gene mutation and non-hemolytic non-binding hyperbilirubinemia. UGT1 A1 gene mutation profiles of children of different genders and nationalities were compared. Results The mutation rates of c.211 G>A,c.1456 T>G,and c.1061 C>T in the observation group were 62.69%,62.69%,and 47.77%,which were higher than that of the control group(14.93%,2.99%,and 7.46%)(P<0.05). The genotype frequency and allele frequency were compared between the two groups,and the difference was statistically significant(P<0.05). c.211 G>A,c.1456 T>G,c.1061 C>T heterozygous and homozygous mutations were positively correlated with non-hemolytic non-binding hyperbilirubinemia(P<0.05). Han children with c.211 G>A,c.1456 T>G,c.1061 C>T heterozygous mutants were higher than those of ethnic minorities,the frequency of c.1456 T>G homozygous mutation in Han children was lower than those of minority children(P<0.05). Conclusions The incidence of infantile hyperunconjugated bilirubinemia is related to c.211 G>A,c.1456 T>G,c.1061 C>T locus mutations in the UGT1 A1 gene in Yunnan. c.1456 T>G homozygous mutations are concentrated in ethnic minorities,c.211 G>A,c.1456 T>G,c.1061 C>T complex heterozygous mutations are mainly caused by Han population.

关 键 词：UGT1A1基因 云南儿童 GILBERT综合征 Crigler-Najijiar综合征 

分 类 号：R722.17[医药卫生—儿科]