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张泽瀚,吉喆,姜横,林涛,孟怡辰,周许辉.汉族人群青少年特发性脊柱侧凸家系中存在复合型杂合DOCK9基因突变[J].脊柱外科杂志,2018,16(6):349-353.
汉族人群青少年特发性脊柱侧凸家系中存在复合型杂合DOCK9基因突变     点此下载全文 (Fulltext)
张泽瀚1  2△  吉喆1  3△  姜横1  林涛1  孟怡辰1*  周许辉1*
1. 海军军医大学附属长征医院骨科, 上海 200003;
2. 海军军医大学基础医学院学员五队, 上海 200433;
3. 新疆维吾尔自治区人民医院骨科中心, 新疆维吾尔自治区 831000
基金项目:国家自然科学基金(81772305)
DOI:10.3969/j.issn.1672-2957.2018.06.007
摘要点击次数: 495
全文下载次数: 279
摘要:
      目的 探讨青少年特发性脊柱侧凸(AIS)家系中可能的致病基因突变。方法 对一个汉族AIS家系的3名成员(先证者及其表型正常的父母)进行全基因组测序,筛选潜在的致病基因突变,并通过Sanger测序验证所有发现的突变。结果 在AIS家系中发现DOCK9基因存在复合型杂合基因突变c.3259T>C (p.F1087L)和c.2465A>G (p.Y822C)。患者的父母是未出现AIS表型的突变基因携带者,父亲携带c2465A>G突变,而母亲携带c.3259T>C突变。结论 复合型杂合DOCK9基因突变可能导致AIS的发生,其在AIS发生机制中的作用有待于进一步探索。
关键词:青少年  脊柱侧凸  基因,隐性  点突变
Compound heterozygous DOCK9 gene mutation in adolescent idiopathic scoliosis familiy of Han population    Fulltext
ZHANG Ze-han1  2△  JI Zhe1  3△  JIANG Heng1  LIN Tao1  MENG Yi-chen1*  ZHOU Xu-hui1*
1. Department of Orthopaedics, Changzheng Hospital, Navy Medical University, Shanghai 200003, China;
2. Company 5 of Student Bridge, Basic Medicine College, Navy Medical University, Shanghai 200433, China;
3. Department of Orthopaedics, Xinjiang Uygur Autonomous Region People's Hospital, Urumqi 831000, Xinjiang Uygur Autonomous, China
Fund Project:
Abstract:
      Objective To identify genomic mutations in patients with adolescent idiopathic scoliosis(AIS).Methods Whole genome sequencing was performed for 3 members(proband and her parents with normal phenotypes) in a Chinese family with AIS, so as to identify the genomic mutations. The mutation was checked by Sanger sequencing.Results Two novel compound heterozygous mutations in the DOCK9 gene, c.3259 T>C(p.F1087L) and c.2465 A>G(p.Y822C), were identified in the family. The patient's parents were unaffected carriers with c.2465 A>G(father) and c.3259 T>C(mother) mutations.Conclusion Compound heterozygous DOCK9 gene mutations may be a cause of AIS. Further studies should be conducted to validate the results and explore the role of DOCK9 mutations in the pathogenesis of AIS.
Keywords:Adolescent  Scoliosis  Genes,recessive  Point mutation
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