天津医药 ›› 2017, Vol. 45 ›› Issue (3): 297-300.doi: 10.11958/20170130

• 临床研究 • 上一篇    下一篇

中国北方汉族人群神经管缺陷患儿 DACT1 基因突变分析

方玉莲 1, 赵林胜 2, 张瑞苹 3, 支秀芳 3, 王懿征 3, 曹丽荣 3, 蔡春泉 4△   

  1. 1 天津市儿童医院儿科研究所 (邮编 300134), 2 病理科; 3 天津医科大学研究生院; 4 天津市儿童医院神经外科
  • 收稿日期:2017-01-25 修回日期:2017-02-09 出版日期:2017-03-15 发布日期:2017-03-21
  • 通讯作者: 蔡春泉 E-mail:15122656313@126.com
  • 基金资助:
    天津市应用基础与前沿技术研究计划(14JCYBJC25000); 国家重点基础研究发展计划 “973 计划” 项目(2013CB945400-4); 天津市卫生行业重点攻关项目 (16KG166); 天津市卫计委重点项目 (2015KR12)

Mutation analysis on DACT1 gene in children with neural tube defects in northern Chinese Han population

FANG Yu-lian1, ZHAO Lin-sheng2, ZHANG Rui-ping3, ZHI Xiu-fang3, WANG Yi-zheng3, CAO Li-rong3, CAI Chun-quan4△   

  1. 1 Institute of Pediatric, 2 Department of Pathology, Tianjin Children’ s Hospital, Tianjin 300134, China; 3 GraduateCollege of Tianjin Medical University; 4 Department of Neurosurgery, Tianjin Children’ s Hospital
  • Received:2017-01-25 Revised:2017-02-09 Published:2017-03-15 Online:2017-03-21
  • Contact: CAI Chun-quan E-mail:15122656313@126.com

摘要: 摘要: 目的 探讨中国北方汉族人群神经管缺陷(NTDs)患儿与 DACT1 基因的相关性, 为疾病的诊断及遗传咨 询提供依据。方法 收集 163 例 NTDs 患者和 480 例无亲缘关系健康个体的外周血标本, 采用聚合酶链反应和 DNA 直接测序的方法检测 DACT1 基因的突变情况, 并对突变位点进行生物信息学分析。结果 在 NTDs 患者中发 现 6 个突变位点, 有 4 个突变位点为错义突变, 分别为 p.R45W、 p.D142G、 p.N356K、 p.V702G, 在正常对照中未检测到这些突变位点。其中 3 个位点的氨基酸残基(p.45R、 p.142D、 p.356N)在进化上高度保守, 且这 3 个位点突变携带者均为女性, 同时存在无脑畸形。结论 中国北方汉族人群 NTDs 患者存在 DACT1 基因突变, 且可能为该病风险因素之一。

关键词: 神经管缺损, 突变, 汉族, DACT1

Abstract: Abstract: Objective To investigate the correlation between neural tube defects (NTDs) and DACT1 gene, and provide the basic data for disease diagnosis and genetic counseling. Methods Blood samples were obtained from 163 NTDs patients and 480 unrelated healthy individuals. Mutation detection of DACT1 gene and DNA direct sequencing was carried out by PCR amplification. Bioinformatics analysis of these mutated loci was performed. Results Six mutations were found in NTDs patients, including 4 missense mutations (p.R45W, p.D142G, p.N356K and p.V702G). But these mutations were not found in 480 healthy individuals. Three mutated amino acid residues (p.45R, p.142D and p.356N) were highly conservative in evolution, and the mutated carriers were female patients, and suffered from anencephaly. Conclusion DACT1 gene mutation may be a risk factor of NTDs in Han population of northern China.

Key words: neural tube defects, mutation, Han nationality, DACT1