一个中国早发性女性相关2型糖尿病家族的新基因发现。
NOVEL GENETIC FINDINGS IN A CHINESE FAMILY WITH EARLY-ONSET FEMALE-RELATED TYPE 2 DIABETES.
作者信息
Zhou T C, Yang Y, Zhang L, Liu Y Y, Lai X, Li Y, Li X, Xiong Y X, Yang L, Irwin D M
机构信息
Central Laboratory, Department of Endocrinology, Second People's Hospital of Yunnan Province, China.
State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, China.
出版信息
Acta Endocrinol (Buchar). 2017 Jul-Sep;13(3):364-369. doi: 10.4183/aeb.2017.364.
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.
在中国家庭中，尚未有早发性女性相关2型糖尿病遗传的报道。在本研究中，我们旨在描述一个三代家庭中2型糖尿病的遗传模式，并确定导致2型糖尿病的基因。全基因组多点参数连锁分析显示，在20号染色体p11.2 - 12区域，23.5至30.8厘摩之间，该家族中与2型糖尿病相关的一个位点的最大多点对数优势（lod）得分为2.1。在这个家族中，2型糖尿病可能作为一种常染色体显性性状遗传，女性相关的外显率较高。在此，我们描述了位于20号染色体p11.2 - 12上的首个2型糖尿病遗传位点。该区域包含8个已知或预测的基因（PLCB1、PLCB4、LAMP5、PAK7、ANKEF1、SNAP25、SLX4IP和JAG1）。与能量或葡萄糖稳态相关表型相关的基因SNAP25可能在这个家族的2型糖尿病发病中起作用。
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