机构：[1]Central Laboratory, Department of Endocrinology, Second People's Hospital of Yunnan Province, China.[2]State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, China.[3]The second affiliated hosptial of Kunming Medicial Unversity, Nuclear medicine, Kunming, Yunnan Province, China.[4]University of Toronto, Department of Laboratory Medicine and Pathobiology, Toronto, Canada.
No inheritance of early-onset female-related type 2 diabetes was reported within Chinese families. In this study, we aim to describe the inheritance pattern of type 2 diabetes in a 3-generation family and identify the gene responsible for type 2 diabetes. Genome-wide multipoint parametric linkage analysis revealed a maximum multipoint logarithm of odds (lod) score of 2.1 for a locus being associated with type 2 diabetes in this family on chromosome 20p11.2-12 between 23.5~30.8cM. Type 2 diabetes may be transmitted as an autosomal dominant trait with a high female-related penetrance in this family. Here we describe the first genetic locus for type 2 diabetes at chromosome 20p11.2-12. This region contains 8 known or predicted genes (PLCB1, PLCB4, LAMP5, PAK7, ANKEF1, SNAP25, SLX4IP, and JAG1). Gene SNAP25 which linked to energy or glucose homeostasis associated phenotypes may play a role in the development of type 2 diabetes in this family.
语种：
外文
PubmedID：
中科院(CAS)分区：
出版当年[2017]版：
大类|4 区医学
小类|4 区内分泌学与代谢
最新[2023]版：
大类|4 区医学
小类|4 区内分泌学与代谢
第一作者：
第一作者机构：[1]Central Laboratory, Department of Endocrinology, Second People's Hospital of Yunnan Province, China.[2]State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, China.
推荐引用方式(GB/T 7714)：
Zhou T C,Yang Y,Zhang L,et al.NOVEL GENETIC FINDINGS IN A CHINESE FAMILY WITH EARLY-ONSET FEMALE-RELATED TYPE 2 DIABETES.[J].Acta endocrinologica (Bucharest, Romania : 2005).2017,13(3):364-369.doi:10.4183/aeb.2017.364.
APA：
Zhou T C,Yang Y,Zhang L,Liu Y Y,Lai X...&Irwin D M.(2017).NOVEL GENETIC FINDINGS IN A CHINESE FAMILY WITH EARLY-ONSET FEMALE-RELATED TYPE 2 DIABETES..Acta endocrinologica (Bucharest, Romania : 2005),13,(3)
MLA：
Zhou T C,et al."NOVEL GENETIC FINDINGS IN A CHINESE FAMILY WITH EARLY-ONSET FEMALE-RELATED TYPE 2 DIABETES.".Acta endocrinologica (Bucharest, Romania : 2005) 13..3(2017):364-369
