靶向捕获高通量测序技术在遗传性疾病分子诊疗中的应用  

Application of target capture high-throughput sequencing technology in molecular diagnosis and treatment of genetic diseases

作　　者：张坡 李茜 朱艳[1] 胡苏玮[1] ZHANG Po;LI Qian;ZHU Yan(Affiliated Hospital of Medical College of Yangzhou University,Yangzhou Municipal Maternal and Child Health Care Hospital,Yangzhou,Jiangsu 225002,China)

机构地区：[1]扬州大学医学院附属医院(扬州市妇幼保健院),江苏扬州225002

出　　处：《中国妇幼保健》2019年第10期2313-2315,共3页Maternal and Child Health Care of China

基　　金：江苏省自然科学基金青年项目资助(BK20140101);扬州市重点研发计划社会发展项目(YZ2016064);江苏省妇幼健康科研项目(F201672)

摘　　要：目的应用靶向捕获高通量测序技术对常见遗传性疾病进行基因突变分析,为患者及家庭提供基因诊断的依据。方法对1例神经纤维瘤家系和1个脊椎骨骺发育不良的家系应用高通量测序技术进行相关基因检测。结果在神经纤维瘤患者中检测到符合临床提示的致病性基因突变,NF1基因第16内含子c. 1845+1_1845+5delGTAAG,脊椎骨骺发育不良的家系中检测到TRAPPC2基因第5外显子c. 271_275delCAAGA半合子致病突变。Sanger测序的验证结果与高通量测序一致。结论靶向捕获高通量测序技术可以在基因组水平对一些遗传性疾病进行分子诊断,评估预后,并为患者及亲属提供遗传咨询,预测再发风险以及提供产前诊断。Objective To analyze gene mutation of common genetic diseases using target capture high-throughput sequencing technology,provide a basis for genetic diagnosis of patients and their families. Methods Related genetic detection was performed in one neurofibroma family and one spondyloepiphyseal dysplasia family by target capture high-throughput sequencing technology. Results A pathogenic gene mutation was detected in the patient with neurofibroma,which located in c. 1845+ 1_1845+ 5delGTAAG of the 16th intron of NF1 gene, c. 271_275delCAAGA hemizygous gene mutation of the fifth exon of TRAPPC2 gene was detected in spondyloepiphyseal dysplasia family,the results of Sanger sequencing were consistent with high -throughput sequencing. Conclusion Target capture high -throughput sequencing technology can provide molecular diagnosis and prognosis evaluation for some genetic diseases at genomic level,and it can provide genetic counseling for patients and their relatives,predict the risk of recurrence,and provide prenatal diagnosis.

关 键 词：高通量测序 遗传性疾病 基因突变 分子诊断 

分 类 号：R726.2[医药卫生—儿科]