《生命科学》 2023, 35(12): 1586-1593

少数民族遗传资源调查研究进展

罗　薇^1,2 , 侯宗柳^1,3 , 郭洋帆^1,3,*

¹昆明医科大学附属延安医院中心实验室，昆明 650051 ²昆明医科大学， 昆明 650500 ³云南省肿瘤免疫防治研究重点实验室，昆明 650051

摘　要：

少数民族遗传资源是开展人类多样性研究、探索民族演化与生命健康的核心要素。近年来我国针对少数民族群体，在民族源流和群体遗传、遗传易感性与疾病风险差异、自然选择与遗传多态性等领域开展了多项研究。《人类遗传资源管理条例》的出台也进一步规范了针对少数民族的遗传资源采集、保藏与调查研究。本文从研究内容、法律实践、科学发现等方面系统回顾了少数民族遗传资源调查研究的相关进展，并对流调采样、样本处理和共享利用等核心环节的实践要点进行了总结与分享。

通讯作者：郭洋帆 , Email:guoyangfan@kmmu.edu.cn

Research progress of genetic resources investigation of ethnic minorities

LUO Wei^1,2 , HOU Zong-Liu^1,3 , GUO Yang-Fan^1,3,*

¹Central Laboratory of Yan'an Hospital Affiliated to Kunming Medical University, Kunming 650051, China ²Kunming Medical University, Kunming 650500, China ³Key Laboratory of Tumor Immunological Prevention and Treatment of Yunnan Province, Kunming 650051, China

Abstract:

Genetic resource of ethnic minority is the core element for the research of human diversity, ethnic origin exploration, and healthcare improvement. Over the last decades, multiple studies on ethnic minorities have been initiated in China, mainly focused on the fields of ancestral origin, population genetics, genetic susceptibility, variation in disease risk, natural selection and genetic polymorphism. The promulgation of the National Regulations on the Management of Human Genetic Resources has further standardized the collection, preservation and research activities of genetic resources for ethnic minorities. This paper reviews significant progress of the ethnic minority genetic resources investigation regarding research content, legal practice, and scientific discovery, and summarizes the practical experiences of core steps of genetic epidemiological investigation, such as event organization, sample collecting, processing and data sharing.

Communication Author：GUO Yang-Fan , Email:guoyangfan@kmmu.edu.cn