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作 者:孔静 戴静宜 龙伟 杨宇奇 周红 虞斌 秦志强 KONG Jing;DAI Jingyi;LONG Wei;YANG Yuqi;ZHOU Hong;YU Bin;QIN Zhiqiang(Department of Laboratory,Changzhou Maternal and Child Health Care Hospital Affiliated to Nanjing Medical University,Changzhou,Jiangsu 213003,China;School of Medicine,Jiangsu University,Zhenjiang,Jiangsu 212013,China)
机构地区:[1]南京医科大学附属常州妇幼保健院实验室,江苏常州213003 [2]江苏大学医学院,江苏镇江212013
出 处:《重庆医学》2019年第12期2087-2089,2094,共4页Chongqing medicine
基 金:江苏省重点研究计划(BE2017650);江苏省常州市科技支撑计划(CE20175021);江苏省妇幼健康科研项目(F201671)
摘 要:目的分析甲状腺发育异常相关致病基因的突变特点。方法以江苏地区通过新生儿疾病筛查确诊的89例先天性甲状腺功能减低症(CH)患者为研究对象,基于文献复习的基础上,针对甲状腺发育异常相关致病基因的热点突变的外显子及外显子-内含子交界区域设计靶向测序panel,包括促甲状腺素受体(TSHR)、甲状腺转录因子1(TTF1)、甲状腺转录因子2(TTF2)、PAX8、NKX2-5和THRA基因,采用靶向捕获测序技术进行检测。结果89例CH患者中有19例检出甲状腺发育异常致病基因致病突变,70例未检出相关潜在致病突变,总体突变检出率为21.35%(19/89);共检出23个潜在致病突变,包括17个TSHR突变,2个TTF1突变,2个PAX8突变,以及TTF2、NKX2-5突变各1个,THRA突变未检出。共发现8个新突变,包括4个TSHR突变,1个TTF1突变,2个PAX8突变和1个NKX2-5突变。结论江苏地区人群中CH相关致病基因突变中约20%与甲状腺发育异常有关,与国外研究相比存在较大的差异。Objective To analyze the mutation characteristics of thyroid dysplasia related pathogenic genes.Methods A total of 89 patients with congenital hypothyroidism (CH) diagnosed by neonatal disease screening in Jiangsu region were enrolled.Based on literature review,sequencing panel was designed to target the episodes of the exon and exon-intron junction regions of hotspot mutations in thyroid dysplasia-related pathogenic genes,including thyroid-stimulating hormone receptor(TSHR),thyroid transcription factor 1(TTF1),thyroid transcription factor 2(TTF2),PAX8,NKX2-5 and THRA genes.Targeted capture sequencing technology was used for detection.Results Of the 89 patients with CH,19 patients had thyroid dysplasia-causing gene mutations,and 70 had no relevant potential pathogenic mutations.The overall mutation detection rate was 21.34%(19/89).23 cases of potential pathogenic mutations were detected,including 17 cases of TSHR mutation,2 cases of TTF1 mutation,2 cases of PAX8 mutation,and 1 case of TTF2 mutation and 1 case of NKX2-5 mutation and no THRA mutation.A total of 8 novel mutations were found,including 4 cases of TSHR mutation,1 case of TTF1 mutation,2 cases of PAX8 mutation and 1 case of NKX2-5 mutation.Conclusion About 20% of CH-related pathogenic gene mutations are related to thyroid dysplasia in this region,and there are large differences compared with foreign sporadic literatures.
关 键 词:先天性甲状腺功能减退症 甲状腺发育异常 靶向测序 基因 突变
分 类 号:R394.3[医药卫生—医学遗传学]
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