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.
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。.
Keywords: Complex heterozygous mutation; Crigler-Najjar syndrome; Pedigree study; UGT1A1 gene.