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[1]任偉凡,辛大偉,胡勁濤,等.全外顯子組測(cè)序篩選1個(gè)人類白細(xì)胞抗原-B27陰性強(qiáng)直性脊柱炎家系的強(qiáng)直性脊柱炎易感基因[J].中醫(yī)正骨,2022,34(06):25-28.
 REN Weifan,XIN Dawei,HU Jintao,et al.Screening of susceptible gene to ankylosing spondylitis in a human leucocyte antigen-B27-negative family by whole exome sequencing[J].The Journal of Traditional Chinese Orthopedics and Traumatology,2022,34(06):25-28.
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全外顯子組測(cè)序篩選1個(gè)人類白細(xì)胞抗原-B27陰性強(qiáng)直性脊柱炎家系的強(qiáng)直性脊柱炎易感基因()
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《中醫(yī)正骨》[ISSN:1001-6015/CN:41-1162/R]

卷:
第34卷
期數(shù):
2022年06期
頁(yè)碼:
25-28
欄目:
臨床研究
出版日期:
2022-06-20

文章信息/Info

Title:
Screening of susceptible gene to ankylosing spondylitis in a human leucocyte antigen-B27-negative family by whole exome sequencing
作者:
任偉凡1辛大偉1胡勁濤2吳風(fēng)晴1周化騰1杜偉斌1全仁夫1
(1.杭州市蕭山區(qū)中醫(yī)院,浙江 杭州 311201; 2.浙江中醫(yī)藥大學(xué)附屬杭州市中醫(yī)院,浙江 杭州 310007)
Author(s):
REN Weifan1XIN Dawei1HU Jintao2WU Fengqing1ZHOU Huateng1DU Weibin1QUAN Renfu1
1.Xiaoshan Hospital of Traditional Chinese Medicine,Hangzhou 311201,Zhejiang,China 2.Hangzhou TCM Hospital Affiliated to Zhejiang Chinese Medical University,Hangzhou 310007,Zhejiang,China
關(guān)鍵詞:
脊柱炎強(qiáng)直性 HLA-B27抗原 易感基因 全外顯子組測(cè)序
Keywords:
spondylitisankylosing HLA-B27 antigen susceptible gene whole exome sequencing
摘要:
目的:篩選1個(gè)人類白細(xì)胞抗原-B27陰性強(qiáng)直性脊柱炎(ankylosing spondylitis,AS)家系的AS易感基因。方法:納入1個(gè)AS家系的15名核心成員,其中AS患者2例。采集AS家系15名核心成員的外周血,提取外周血基因組。將先證者、先證者女兒、先證者兒子的基因組進(jìn)行全外顯子組測(cè)序,分析測(cè)序數(shù)據(jù),篩選AS易感基因,并采用Sanger測(cè)序驗(yàn)證篩選出的AS易感基因。結(jié)果:外顯子組測(cè)序獲得了高質(zhì)量的測(cè)序數(shù)據(jù)。RELA基因10號(hào)外顯子上存在一個(gè)雜合移碼突變c.1039delG。Sanger測(cè)序結(jié)果顯示,先證者、先證者女兒及先證者孫子的基因組上存在該突變,其他家系成員不存在該突變。結(jié)論:突變的RELA基因可能是該AS家系的AS易感基因。
Abstract:
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.1039delG 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.

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備注/Memo

備注/Memo:
基金項(xiàng)目:浙江省中醫(yī)藥科技計(jì)劃項(xiàng)目(2018ZB111) 通訊作者:全仁夫 E-mail:[email protected]
更新日期/Last Update: 1900-01-01