一例Rotor综合征患儿的基因变异分析  

Analysis of genetic variants in a case with Rotor syndrome

作　　者：王大燕[1] 李小兵[1] 赖盼建 郑兰缙 Wang Dayan;Li Xiaobing;Lai Panjian;Zheng Lanjin(Department of Pediatrics,Jinhua Central Hospital,Jinhua,Zhejiang 321000,China)

机构地区：[1]金华市中心医院儿科,321000

出　　处：《中华医学遗传学杂志》2021年第4期359-362,共4页Chinese Journal of Medical Genetics

基　　金：浙江省卫生厅科研项目(2020KY342);金华市科学技术研究计划(2019-3-010)。

摘　　要：目的探讨1例Rotor综合征患儿的遗传学病因。方法收集患儿的临床资料,应用高通量测序技术对患者行全外显子组测序并进行Sanger测序验证。用单管三引物PCR分析法检测SLCO1B3基因第5内含子长散布元件-1(long-interspersed element-1,LINE-1)的插入情况。结果高通量全外显子组测序发现患儿携带SLCO1B1基因c.1738C>T纯合无义变异。SLCO1B3基因第5内含子中LINE-1的纯合插入,导致第5外显子或第5~7外显子跳跃,并在SLCO1B3转录本中引入了终止密码子。结论SLCO1B1基因c.1738C>T纯合变异以及SLCO1B3基因第5内含子LINE-1的纯合插入可能是该Rotor综合征患儿的致病原因。Objective To explore the genetic basis for a patient featuring Rotor syndrome.Methods Clinical data of the patient was collected.Whole exome sequencing(WES)based on high-throughput sequencing technology was carried out.Long-interspersed element-1(LINE-1)insertion in intron 5 of the SLCO1B3 gene was detected by using tri-primer single tube PCR.Results WES revealed that the patient has carried homozygous c.1738C>T nonsense variants of the SLCO1B1 gene.He was also found to harbor a homozygous insertion of LINE-1 in intron 5 of the SLCO1B3 gene,which has caused skipping of exon 5 or exons 5 to 7 and introduced a stop codon in the SLCO1B3 transcript.Conclusion The homozygous c.1738C>T variant of the SLCO1B1 gene and homozygous insertion of LINE-1 in intron 5 of the SLCO1B3 gene probably underlay the Rotor syndrome in this patient.

关 键 词：ROTOR综合征 SLCO1B1基因 SLCO1B3基因 长散布元件-1 

分 类 号：R725.7[医药卫生—儿科]