UGT1A1基因复合杂合突变引起Crigler-Najjar综合征II型的家系研究  

A family study of the compound heterozygous mutation of the UGT1A1 gene causing Crigler-Najjar syndrome type II

作　　者：罗磊 姚雪兵[1] 郑素军[2] 杨文龙[1] Luo Lei;Yao Xuebing;Zheng Sujun;Yang Wenlong(Department of Infectious Diseases,the Second Affiliated Hospital of Nanchang University,Nanchang 330006,China;First Department of Hepatology Center,Beijing You'an Hospital,Capital Medical University,Beijing 100069,China)

机构地区：[1]南昌大学第二附属医院感染性疾病科,南昌330006 [2]首都医科大学附属北京佑安医院肝病中心一科,北京100069

出　　处：《中华肝脏病杂志》2023年第2期168-173,共6页Chinese Journal of Hepatology

基　　金：南昌大学第二附属医院博士启动基金(B2273);北京市医院管理中心重点医学专业发展计划(扬帆计划)(ZYLX202125);江西省自然科学基金(20192BAB205014)。

摘　　要：目的克里格勒-纳贾尔综合征II型(CNS-II)的家系基因特征。方法对一个CNS-II家系(3个CNS-II,1个Gilbert综合征和8个正常人)的UGT1A1基因及相关胆红素代谢基因进行全面分析,从家系分析的角度探索CNS-II基因学基础。结果3例患者由UGT1A1基因3位点复合杂合突变(c.-3279T>G,c.211G>A和c.1456T>G)引起CNS-II,未发现与Gilbert综合征及CNS-II等疾病显著相关的多样性位点分布。结论基于CNS-II家族研究,UGT1A1基因3位点复合杂合致病性突变(c.-3279T>G,c.211G>A和c.1456T>G)可能是新发现的CNS-II家系基因特征。Objective To investigate the family gene features in Crigler-Najjar syndrome(CNS)type II.Methods The UGT1A1 gene and related bilirubin metabolism genes were comprehensively analysed in a CNS-II family(3 CNS-II,1 Gilbert syndrome,and 8 normal subjects).The genetics basis of CNS-II were investigated from the perspective of family analysis.Results In three cases,compound heterozygous mutations at three sites of the UGT1A1 gene(c.-3279T>G,c.211G>A and c.1456T>G)caused CNS-II.Gilbert syndrome and CNS-II were not significantly associated with distribution or diversity loci.Conclusion The compound heterozygous pathogenic mutations(c.-3279T>G,c.211G>A,and c.1456T>G)at three loci of the UGT1A1 gene may be the feature of the newly discovered CNS-II family genes based on the CNS-II family study.

关 键 词：克里格勒-纳贾尔综合征 UGT1A1基因 复合杂合突变 家系研究 

分 类 号：R596[医药卫生—内科学]