摘要
人类CD59的基因定位于第11号染色体短臂(11p13),DNA长约40 kb,包括6个外显子和6个内含子,有8种相关的mRNA序列。成熟的CD59蛋白含有77个氨基酸,与糖基磷脂酰肌醇(Glycosylphophatidylionsitol, GPI)连接锚定于细胞膜表面。在2014年,CD59被国际输血协会红细胞免疫遗传学和血型命名工作组命名为第35个血型系统,至今已报道4个无效等位基因。CD59缺失分为遗传性缺失和继发性缺失,前者极其罕见,迄今为止,只报道了14例CD59遗传性缺失者,主要是由移码突变或错义突变导致CD59蛋白合成异常或者未(正常)定位至细胞膜而引起的,后者是阵发性睡眠性血红蛋白尿(Paroxysmal Nocturnal Hemoglobinuria,PNH)疾病发生的主要标志。CD59遗传性缺失者均患有严重疾病,而且如果CD59遗传性缺失个体输入CD59阳性红细胞,可以引起溶血性输血反应。因此,为避免CD59缺失型个体的溶血性输血反应,建立1套廉价、快速、高通量的CD59缺失型筛选方法和CD59低表达杂合子血液实体库具有非常重要的临床意义。
The human CD59 gene is mapped to the short arm of chromosome 11(11 p13), where it spans about 40 kb in length, including 6 exons and 6 introns, and there are 8 related mRNA sequences. The mature CD59 protein which contains 77 amino acids is anchored to the cell membrane surface with Glycosylphophatidylionsitol(GPI). In 2014, CD59 was named as the 35 th blood group system by the International Society for Blood Transfusion Red Cell Immunogenetics and Blood Group Terminology Working Party, and only 4 alleles published to date are null alleles. CD59 deletion is divided into primary and secondary CD59 deficiency. The former is extremely rare, only 14 cases of primary CD59 deficiency have ever been reported to date, mainly due to abnormal synthesis of proteins as a result of frame shift mutations and missense mutations, or the inability of normal synthesized proteins to localize to the cell membrane;the latter is the symbolize of Paroxysmal Nocturnal Hemoglobinuria(PNH) disease. Patients with primary CD59 deficiency all suffer from severe disease, and individuals with primary CD59 deficiency can develop hemolytic transfusion reactions once they received CD59-positive RBCs. Therefore, in order to avoid hemolytic transfusion reactions in individuals with CD59 deletion, establishing a set of low-cost, rapid, high-throughput CD59 deletion screening method and CD59 low-expression heterozygous blood entity library has very important clinical significance.
出处
《中国输血杂志》
CAS
2019年第2期212-216,共5页
Chinese Journal of Blood Transfusion
基金
中国输血协会威高科研基金资助项目
辽宁省自然科学基金指导计划项目(201602439)
沈阳市科技计划项目(18-014-4-50)
沈阳市科技计划项目(F16-206-9-35)
关键词
CD59缺失
遗传机制
抗体
临床意义
CD59 deficiency
genetic mechanism
antibody
clinical significance
