《生命科学》 2022, 34(5): 581-589

HBS1L-MYB基因区域在遗传性血红蛋白疾病中的研究进展

杨宇熙^1,2,3 , 韩兵社^1,2,3,* , 王玉成^1,2,3 , 张俊芳^1,2,3

¹上海海洋大学，水产种质资源发掘与利用教育部重点实验室，上海 201306 ²上海海洋大学，水产科学国家级 实验教学示范中心，上海 201306 ³上海海洋大学，科技部海洋生物科学国际联合研究中心，上海 201306

摘　要：

地中海贫血症和镰刀型贫血症是世界各地各种族人群中的两种最常见的单基因疾病。这两种疾病在临床表现上差异很大，其中患者体内胎儿血红蛋白(HbF) 的水平是影响疾病临床表现的主要因素之一。大量研究发现，HbF 水平受BCL11A、Xmn1-HBG2 和HBS1L-MYB 基因区域的单核苷酸多态性(single nucleotide polymorphism, SNP) 等因素的影响，其中以HBS1L-MYB 基因区域的SNP 影响最为显著。该文总结了HBS1L-MYB 基因区域在不同地区和不同人种中的变异，尤其是与血液性状相关的SNP 位点对胎儿血红蛋白的影响，并进一步结合基因间区内的顺式作用元件功能讨论了该区域SNP 的可能的作用机制，全面地对该区域在HbF 及血红蛋白疾病中的研究进展做一综述。

通讯作者：韩兵社 , Email:bs-han@shou.edu.cn

Advances in HBS1L-MYB gene region in hereditary hemoglobin diseases

YANG Yu-Xi^1,2,3 , HAN Bing-She^1,2,3,* , WANG Yu-Cheng^1,2,3 , ZHANG Jun-Fang^1,2,3

¹Key Laboratory of Aquatic Germplasm Resources Exploration and Utilization, Ministry of Education, Shanghai Ocean University, Shanghai 201306, China ²National Experimental Teaching Demonstration Center of Aquatic Science, Shanghai Ocean University, Shanghai 201306, China ³International Joint Research Center for Marine Biological Sciences, Ministry of Science and Technology of China, Shanghai Ocean University, Shanghai 201306, China

Abstract:

Thalassaemia and sickle cell anaemia are the two most common monogenic diseases in many populations worldwide. The clinical severity of these two diseases varies greatly, and the level of fetal hemoglobin (HbF) is one of the major factors. It is affected by the single nucleotide polymorphism (SNP) of BCL11A, Xmn1-HBG2 and HBS1L-MYB gene regions, among which the SNPs of the HBS1L-MYB gene region show the most significant effect. This article summarizes the variations of HBS1L-MYB gene region, especially the effects of SNPs related to blood traits on fetal hemoglobin in different regions and different races. Moreover, this article discusses the possible mechanisms of SNP in combination with the functions of cis-acting elements in the intergenic region, and comprehensively reviews the advances of this region in HbF and hemoglobinopathy.

Communication Author：HAN Bing-She , Email:bs-han@shou.edu.cn