摘要
二代测序技术是基因检测方法的一次改革,为以新生儿糖尿病和青少年起病的成年型糖尿病为代表的单基因糖尿病的早期基因学诊断和研究开阔思路,并在探索新基因中展现出巨大优势。
Next-generation sequencing is a revolution in the approach of genetic testing.It broadens the insight on the genetic diagnosis and research of monogenetic diabetes,which is represented by neonatal diabetes mellitus and maturity onset diabetes of the young.And it reveals advantages in exploring novel mutations.
作者
饶翀
肖新华
于淼
RAO Chong XIAO Xin-hua YU Miao.(Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Key Laboratory of Endocrinology Assigned by Ministry of Health ,Beijing 100730 ,China)
出处
《中国糖尿病杂志》
CAS
CSCD
北大核心
2017年第2期178-180,共3页
Chinese Journal of Diabetes
基金
国家自然科学基金(81170736、81570715)
国家临床重点专科建设项目
关键词
二代测序
单基因糖尿病
基因检测
Next-generation sequencing
Monogenic diabetes
Genetic testing
