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.
基金：
This work was supported by grants from the National
Natural Science Foundation of China (No. 81260135),
the training fund for Young and Middle Aged Academic
Technology leaders in Yunnan Province (No. 2011CI045)
and the fund of medical leader in Yunnan Province (No.L-
201609). This work was also supported by Specific
Association Foundation Program of Yunnan Provincial
Science and Technology Department and Kunming Medical
University (No.2017FE468 and No. 2014FA016).
语种：
外文
PubmedID：
中科院(CAS)分区：
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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.
通讯作者：
通讯机构：[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.[*1]176 Youth Road, Kunming, Yunnan Province, Kunming, 650021, 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).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.(0).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(0):364-369
