摘要
目的建立基于IonTorrent半导体测序技术的结节性硬化症（tuberoussclerosiscomplex，TSC）TSC1／TSC2基因诊断和产前诊断方法，并评价其临床应用价值。方法应用IonTorrentPGM测序仪对2个TSC家系的患者及1例散发型TSC患者进行TSC1／TSC2基因测序，筛选致病突变并用Sanger测序验证。同时对1例胎儿的TSC1／TSC2基因的相应位点进行检测以明确受累情况。结果家系1患者TSC2基因检测到c．311-312insGCTG移码突变，为可疑致病突变；家系2患者TSCg基因检测到c．1790A〉G（p．His597Arg）错义突变，亦为可疑致病突变，其胎儿未携带同样的突变。结论建立了基于Ion Torrent半导体测序技术的TSC基因诊断方法，可为临床诊断及遗传咨询提供依据，并对1例胎儿进行了产前诊断，具有较高的临床应用价值。
Objective To develop and validate a method for mutation screening and prenatal diagnosis of TSC1/TSC2 mutations among patients with tuberous sclerosis complex （TSC） by Ion Torrent semiconductor sequencing. Methods Potential mutations of TSC1/TSC2 gene was detected in 2 TSC families and 1 sporadic TSC patient using an Ion Torrent PGM sequencer. Candidate variants were validated by Sanger sequencing. The corresponding site of TSC2 in the fetus of family 2 was also detected with Sanger sequencing. Results Ion Torrent semiconductor sequencing has identified a probably pathogenic TSC2 mutation（c. 311-312insGCTG） in the patient from family 1, and a probably pathogenic TSC2 mutation（c. 1790A〉G） in the patient of family 2. Conclusion Targeted Ion Torrent PGM sequencing is an accurate and efficient method to detect TSC1/TSC2 mutations in TSC.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2016年第2期169-172,共4页
Chinese Journal of Medical Genetics
基金
江苏省医学创新团队与领军人才课题（LJ201109）
江苏省临床医学科技专项（BL2012039）
江苏省自然科学基金（BK20141076）
江苏省卫生厅科技项目（F201216、H201343）
