摘要
目的应用全外显子组测序对1例遗传性肺囊肿家系进行遗传基因研究。方法遴选出2018年8月—2021年8月我科临床上发现的具有家族聚集现象的肺囊肿家系,对家系成员进行全外显子组测序确定候选基因,并通过生物信息分析、遗传变异解读及Sanger测序验证分析该基因的致病性。结果共纳入1例肺囊肿家系,在家系先证者检出FLCN基因c.1579_1580insA位点变异,对其阳性家系成员采用Sanger测序验证,同样检出相同基因变异,经生物信息学分析及ACMG指南致病性评级显示检出变异可分类为致病性的基因变异。结论该家系肺囊肿的病因为FLCN基因c.1579_1580insA位点变异;应用全外显子组测序能够快速发现罕见遗传疾病的致病基因,建议临床上若出现不明原因肺囊肿,应进行全外显子组测序检测以明确是否存在遗传因素,从而进一步辅助临床诊断,研究为后期肺囊肿的临床诊疗指南的制定提供了借鉴内容。
Objective To study the genetics of a hereditary pulmonary cyst family by whole exome sequencing.Methods The pulmonary cyst families with familial aggregation that were clinically discovered in our department from August 2018 to August 2021 were selected,and whole exome sequencing was performed on the family members to determine candidate genes,and through bioinformatics analysis,genetic variation The pathogenicity of the gene was analyzed by interpretation and Sanger sequencing.Results A total of 1 family with lung cyst was included.The FLCN gene c.1579_1580insA locus mutation was detected in the family proband.Sanger sequencing was used to verify the positive family members.The same gene mutation was also detected.The bioinformatics analysis and ACMG guidelines the pathogenicity rating indicates that the detected variant can be classified as a pathogenic genetic variant.Conclusion The etiology of lung cysts in this family is the c.1579_1580insA locus mutation of FLCN gene.The application of whole exome sequencing can quickly discover the causative genes of rare genetic diseases.Exome sequencing is used to determine whether there are genetic factors to further assist clinical diagnosis.
作者
叶小凯
王琳
YE Xiaokai;WANG Lin(Department of Respiratory and Critical Care Medicine,Xiamen Haicang Hospital,Xiamen Fujian 361100,China;Xiamen Jiyuan Medical Laboratory,Xiamen Fujian 361100,China)
出处
《中国卫生标准管理》
2022年第12期146-151,共6页
China Health Standard Management
基金
福建省卫生计生科研人才培养项目青年科研课题(2018-2-77)。
