全外显子组测序筛选1个人类白细胞抗原-B27阴性强直性脊柱炎家系的强直性脊柱炎易感基因  

Screening of susceptible gene to ankylosing spondylitis in a human leucocyte antigen-B27-negative family by whole exome sequencing

作　　者：任伟凡 辛大伟[1] 胡劲涛[2] 吴风晴 周化腾 杜伟斌[1] 全仁夫[1] REN Weifan;XIN Dawei;HU Jintao;WU Fengqing;ZHOU Huateng;DU Weibin;QUAN Renfu(Xiaoshan Hospital of Traditional Chinese Medicine,Hangzhou 311201,Zhejiang,China;Hangzhou TCM Hospital Affiliated to Zhejiang Chinese Medical University,Hangzhou 310007,Zhejiang,China)

机构地区：[1]杭州市萧山区中医院,浙江杭州311201 [2]浙江中医药大学附属杭州市中医院,浙江杭州310007

出　　处：《中医正骨》2022年第6期25-28,38,共5页The Journal of Traditional Chinese Orthopedics and Traumatology

基　　金：浙江省中医药科技计划项目(2018ZB111)。

摘　　要：目的:筛选1个人类白细胞抗原-B27阴性强直性脊柱炎(ankylosing spondylitis,AS)家系的AS易感基因。方法:纳入1个AS家系的15名核心成员,其中AS患者2例。采集AS家系15名核心成员的外周血,提取外周血基因组。将先证者、先证者女儿、先证者儿子的基因组进行全外显子组测序,分析测序数据,筛选AS易感基因,并采用Sanger测序验证筛选出的AS易感基因。结果:外显子组测序获得了高质量的测序数据。RELA基因10号外显子上存在一个杂合移码突变c.1039delG。Sanger测序结果显示,先证者、先证者女儿及先证者孙子的基因组上存在该突变,其他家系成员不存在该突变。结论:突变的RELA基因可能是该AS家系的AS易感基因。Objective:To screen the ankylosing spondylitis(AS)-susceptibility gene in a human leucocyte antigen(HLA)-B27-negative family.Methods:Fifteen core members in an AS family were enrolled in the study, including 2 AS cases and their peripheral blood samples were collected for extracting the genomic DNA.The Whole exome sequencing(WES)was performed on proband and proband’s daughter and son.The sequencing data were analyzed for screening the AS-susceptibility gene, which was verified by Sanger sequencing.Results:The high-quality sequencing data yielded via WES.A heterozygous frameshift mutation c.1039 delG in exon 10 of RELA gene was observed.As revealed by Sanger sequencing, the mutation was only present in the genomes of the proband and the proband’s daughter and grandson, while not present in other family members.Conclusion:The mutated RELA gene is presumably the AS-susceptibility gene in this family.

关 键 词：脊柱炎 强直性 HLA-B27抗原 易感基因 全外显子组测序 

分 类 号：R593.23[医药卫生—内科学]