疾病致ABO血型基因受损2例及家系调查  

Two cases of ABO blood group gene damage caused by disease with a family survey

作　　者：吴丽娜 赵瑛 马蕾 李双玉 安仕萍 种靖慧 黄娴 杨扬 解金辉 Wu Lina;Zhao Ying;Ma Lei;Li Shuangyu;An Shiping;Chong Jinghui;Huang Xian;Yang Yang;Xie Jinhui(Tianjin Blood Center,Tianjin 300110,China)

机构地区：[1]天津市血液中心,天津300110

出　　处：《中华检验医学杂志》2024年第12期1477-1480,共4页Chinese Journal of Laboratory Medicine

摘　　要：先证者1, 女, 51岁, 无输血史, 有妊娠史, 慢性粒细胞白血病急性期;先证者2, 男, 53岁, 无输血史, 肝癌患者。先证者1, 2在常规ABO血型鉴定中正定型出现混合外观现象, 医院送标本至本血液中心进行进一步鉴定。实验发现先证者1正定型为A型混合外观, 反定型为A型, 先证者2正定型为B型混合外观, 反定型为B型。对两例先证者分别进行短串联重复序列(STR)实验, 排除由于嵌合体导致的混合外观形象。对先证者1父母进行ABO血型鉴定。后对两例先证者进行ABO基因1~7外显子测序, 结果显示先证者1、2均为O01/O01, 与血清学结果不相符。后针对ABO血型基因A102特异性位点467与B101特异性位点526设计引物, 检出先证者1与先证者2因疾病受损的A102与B101等位基因。推测引起ABO血型血清学与基因测序结果不相符的原因可能是由于疾病导致的ABO血型基因染色体杂合性缺失。Proband 1,female,51 years old,with no history of blood transfusion and history of pregnancy,was in acute phase of chronic myelogenous leukemia;Proband 2,male,53 years old,with no history of blood transfusion,was a patient with liver cancer.Probands 1 and 2 showed mixed appearance with forward typing in routine ABO blood group identification,and the hospital sent samples to our blood center for further identification.The experiment found that proband 1's forward type was A with mixed appearance,while its reverse type was A,and proband 2's foward type was B with mixed appearance,while its reverse type was B.Two probands were tested with short tandem repeat(STR)to exclude the mixed appearance image caused by chimera.ABO blood group identification was performed on Proband 1's parents.Subsequently,exon 1-7 of ABO gene was sequenced in two probands,and the results showed that probands 1 and 2 were O01/O01,which was inconsistent with the serological results.Primers were designed for ABO blood group gene A102 specific site 467 and B101 specific site 526,and the A102 and B101 alleles damaged by diseases were detected in proband 1 and proband 2.It is speculated that the reason for the inconsistency between ABO blood group serology and gene sequencing results may be the loss of heterozygosity(LOH)of ABO blood group genes caused by diseases.

关 键 词：ABO血型系统 杂合子丢失 基因测序 

分 类 号：R440[医药卫生—诊断学]