Liu Hongxian, Huang Kai, Liu Shuyuan, Sun Hao, Lin Keqin, Huang Xiaoqin, Chu Jiayou, Yang Zhaoqing
The Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming, China.
Am J Hum Biol. 2016 Nov;28(6):927-931. doi: 10.1002/ajhb.22868. Epub 2016 Jun 6.
The aim of this study was to determine the distribution and origin of hemoglobin E (HbE) in seven minority groups from various geographical regions of the malaria-endemic Yunnan province, southwestern China, which have similar ethnic origins and geographic relationships with HbE-prevalent populations of Southeast Asian countries.
By using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) methods, the prevalence of HbE was examined in 1488 individuals from seven native minority groups of Yunnan, and β-globin gene cluster haplotypes were determined on 1420 chromosomes.
The prevalence of HbE in the study populations ranged from 1.5 to 39.1%. Higher HbE prevalence was correlated with the minority groups of Tibeto-Burman origin and groups from the Dehong district. The β -globin genes in Yunnan were mostly associated with three haplotypes [-+++++-], [+----+-], and [-+-+++-] on chromosomes with gene framework 2. Interestingly, the predominant β associated haplotype in Yunnan minorities was remarkably different from that in other previously reported populations. This study, for the first time, reports population-based data on the heterogeneity of HbE gene frequencies and haplotype distribution in native minorities from southwestern China.
Natural selection based on the presence of malaria, ethnic origin, and epistatic interactions may be factors of varying importance for the remarkable variation in HbE frequency among these minority groups. In addition, there appears to be a common origin of the β -globin gene in populations from Yunnan and Southeast Asia. Am. J. Hum. Biol. 28:927-931, 2016. © 2016Wiley Periodicals, Inc.
本研究旨在确定来自中国西南部疟疾流行的云南省不同地理区域的七个少数民族群体中血红蛋白E（HbE）的分布和起源，这些群体与东南亚国家HbE流行人群具有相似的种族起源和地理关系。
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，对来自云南七个本土少数民族的1488名个体进行HbE患病率检测，并在1420条染色体上确定β-珠蛋白基因簇单倍型。
研究人群中HbE的患病率在1.5%至39.1%之间。较高的HbE患病率与藏缅族起源的少数民族群体以及来自德宏地区的群体相关。云南的β-珠蛋白基因大多与基因框架2染色体上的三种单倍型[-+++++-]、[+----+-]和[-+-+++-]相关。有趣的是，云南少数民族中主要的β相关单倍型与其他先前报道的人群明显不同。本研究首次报告了中国西南部本土少数民族中HbE基因频率和单倍型分布异质性的基于人群的数据。
基于疟疾的存在、种族起源和上位相互作用的自然选择可能是这些少数民族群体中HbE频率显著变化的不同重要因素。此外，云南和东南亚人群中的β-珠蛋白基因似乎有共同的起源。《美国人类生物学杂志》28:927 - 931，2016年。©2016威利期刊公司。
