摘要
目的探讨高通量测序(next generation sequencing,NGS)技术应用于Waardenburg综合征基因检测的可行性。方法采用NGS技术对先证者进行致病基因检测,并采用Sanger法对NGS结果进行验证。通过Sanger法对家系成员进行基因检测。结果采用NGS技术在先证者小眼畸形相关转录因子(microphthalmia-associated transcription factor,MITF)基因检测到c.796delG杂合缺失突变,Sanger法验证了该突变;采用Sanger法检测发现家系中所有患者均携带MITF基因c.796delG杂合缺失突变,而家系中表型正常者MITF基因c.796位点为野生型。结论 NGS技术可用于Warrdenburg综合征基因突变的快速检测,该家系的致病基因为MITF基因c.796delG杂合缺失突变;MITF基因c.796delG突变为首次报道,是新的致病性突变。
Objective To explore the feasibility of next generation sequencing （NGS） technology in detecting mutation gene in Waardenburg syndrome. Methods NGS technology was adopted to detect the pathogenic mutation of proband. Sanger sequencing was used to confirm the result of NGS and also to detect the mutation of family members. Results A pathogenic frameshift mutation （c. 796delG） was identified in proband microphthalmia-associated transcription factor （MITF） gene by NGS and was confirmed by Sanger sequencing. The result of Sanger sequencing also showed that mutation of MITF gene （c. 796delG） appeared in all abnormal family members, and the mutation was not detected in MITF gene of another family members without Waardenbury syndrome. Conclusion NGS technology is a useful tool for the quick detection of mutant gene in Waardenburg syndrome. The heterozygous mutation of c. 796delG of MITF gene is the pathogenic mutation in this pedigree, which is the first report in China and is a new pathogenie mutation.
出处
《中华实用诊断与治疗杂志》
2016年第10期1002-1004,共3页
Journal of Chinese Practical Diagnosis and Therapy
基金
国家自然科学基金(81270488)
国家自然科学基金(81501336)
河南省医学科技攻关计划项目(201003114)
河南省卫生计生委科技攻关项目(201403180)
郑州市金水区科技攻关项目(38)
