青少年的成人起病型糖尿病家系NEUROD1基因突变的筛查与功能解析

张娟, 葛晓旭, 张荣, 蒋伏松, 蒋燕燕, 李鸣, 李甜甜, 刘婵薇, 陈亚婷, 刘丽梅

Screening and functional analysis of mutations in NEUROD1 gene in pedigrees of maturity-onset diabetes of the young

ZHANG Juan, GE Xiaoxu, ZHANG Rong, JIANG Fusong, JIANG Yanyan, LI Ming, LI Tiantian, LIU Chanwei, CHEN Yating, LIU Limei

图1 NEUROD1 基因中Glu59Gln突变的鉴定 Note： A. Schematic organization of NEUROD1 protein. The numbers indicate the amino acids bordering the functional domains. Solid and dashed arrows indicate the identified mutation Glu59Gln and variation Ala45Thr in NEUROD1 gene, respectively. B. Alignment of specific regions of NEUROD1 from different mammals using Clustal O. C. DNA sequences of two genotypes of WT (Glu59Glu) and mutant (Glu59Gln) in NEUROD1.

Fig 1 Identification of Glu59Gln mutation in NEUROD1 gene