Detection of novel mutations related to maturity-onset diabetes of the young
10.3969/j.issn.1001-6325.2018.04.009
- VernacularTitle:青少年起病的成人型糖尿病相关基因新突变位点的发现
- Author:
Yi-Xin LI
1
;
Yu-Xiu LI
;
Yong-Sheng CHANG
Author Information
1. 中国医学科学院 基础医学研究所 北京协和医学院 基础学院 医学分子生物学国家重点实验室
- Keywords:
MODY;
GCK;
HNF4α;
mutation
- From:
Basic & Clinical Medicine
2018;38(4):470-474
- CountryChina
- Language:Chinese
-
Abstract:
Objective To find novel genes related to maturity-onset diabetes of the young(MODY)or novel muta-tions of known MODY related genes and provide the basis for MODY diagnosis. Methods Taking the major clinical features of MODY as screening criteria,we selected four patients from the Endocrine Department of Peking Union Medical College Hospital and prepared their genomic DNA sample for whole exome sequencing.PCR and Sanger se-quencing are used to validate the sequencing results. Results Two novel mutations of the GCK gene and HNF4α gene, c.1348G>T(p.Ala450Thr)and c.758G>A(p.Arg253Gln)were found in two patients. Conclusions These two patients are both MODY patients and this is the first time the novel mutations were found.