阿昌族中HbE的分子鉴定  

MOLECULAR IDENTIFICATION OF HbE IN ACHANG ETHNIC GROUP

作　　者：曾溢滔[1] 黄英[1] 任兆瑞[1] 黄淑帧[1] 熊源发[2] 叶汉凤 

机构地区：[1]上海市儿童医院上海医学遗传研究所 [2]云南省计划生育技术科学研究所

出　　处：《中华医学遗传学杂志》1992年第4期196-197,T013,共3页Chinese Journal of Medical Genetics

摘　　要：应用PCR/Mnl酶谱和PCR/ASO探针技术对阿昌族中发现的HbE进行了分子鉴定,证实属于经典型HbE,即β^(26)Glu(谷)→Lys(赖)。为中国和东南亚各民族间的关系提供了资料。During a recent hemoglobinopathy survey in Yunnan Province, it was noted that the incidence of HbE was very high in the Achang ethnic group (41.2%). Dried blood samples collected from the patients and carriers were subjected to direct PCR amplification of a 345bp of the beta-globin gene sequence flanking from nt. 62 to the second nucleotide of codon 75, in which two Mnl Ⅰ sites are present. With the HbE mutation, one Mnl Ⅰ recognition site was abolished; hence the HbE gene was easily detected by the analysis of Mnl Ⅰ digestion of the amplified DNA on gel electrophoresis. The variant was further confirmed by dot blot hybridization with the amplified DNA using ASO probes. The molecular identification indicated that the variant in the Achang people is identical to the classical HbE (beta 26 Glu→Lys). This data is insightful and suggestive of the relationships between Achang and other nationalities in the Southeast Asian area.

关 键 词：血红蛋白E 筛查 聚合酶链反应 

分 类 号：R394[医药卫生—医学遗传学]