Jr(a-)孕妇产生抗-Jr^(a)的鉴定及分子遗传学分析——附报道1例  

Anti-Jr^(a) developed in Jra(-) pregnant woman, case report with molecular genetic analysis

作　　者：廖志坚[1] 贾双双[1] 魏玲[1] 王贞[1] 莫春妍[1] 骆宏[1] 温机智[1] 张润青[1] 罗广平[1] 姬艳丽[1] LIAO Zhijian;JIA Shuangshuang;WEI Ling;WANG Zhen;MO Chunyan;Luo Hong;WEN Jizhi;ZHANG Runqing;LUO Guangping;JI Yanli(The Key Medical Disciplines and Specialties Program of Guangzhou,Guangzhou Blood Center,Guangzhou 510095,China)

机构地区：[1]广州血液中心广州市血液安全重点实验室,广东广州510095

出　　处：《中国输血杂志》2022年第1期102-104,共3页Chinese Journal of Blood Transfusion

基　　金：广州市医学重点学科建设项目“血液安全重点实验室”。

摘　　要：目的对1例无输血史但产生高频抗体的孕妇进行抗体特异性鉴定。方法采用盐水试管法鉴定ABO、RhD血型抗原;采用盐水和间接抗球蛋白方法(微柱凝胶卡)进行抗体筛选及抗体鉴定检测;采用菠萝酶、胰酶和抗胰蛋白酶处理过的抗体鉴定细胞进行进一步的抗体鉴定检测;对患者血清进行抗体效价测定;提取DNA标本,对ABCG2基因的16个外显子进行PCR扩增及测序分析。结果患者血型为B型,RhD阳性;血清与抗筛细胞以及抗体鉴定细胞盐水介质反应阴性,抗球蛋白介质反应阳性(均为2+),自身对照为阴性;与菠萝酶处理后细胞反应增强(4+),与胰酶和抗胰蛋白酶处理后细胞反应强度不变(2+)。患者血清IgG抗体效价为1∶2。ABCG2基因测序发现其外显子4存在纯合无义突变(c.376C>T,p.Gln126X)。结论结合血清学与基因分型结果,确定患者为Jr(a-)稀有血型个体,由于母婴不合孕产而导致母体产生了抗-Jr^(a)。Objective To identify the antibody specificity in a pregnant women who had no history of blood transfusion but presented the antibodies against high-frequency antigens. Methods ABO, RhD blood group antigens were identified by saline. Antibody screening and identification were performed by saline and indirect Coomb’s technique. Further antibody identification tests were conducted using papain, trypsin and chymotrypsin-treated cells. Antibody titer in serum was tested. PCR amplification and sequencing analysis of 16 exons of ABCG2 gene were conducted. Results The blood type of the patient were B, RhD positive. The serum reacted with antibody screening/identified cells by indirect antiglobin test(both 2+) but not by saline. The agglutination was enhanced after papain treatment(4+), but remained unchanged after trypsin and chymotrypsin treatment(2+). The IgG titer was 1∶2. The sequencing analysis of ABCG2 gene revealed a homozygous nonsense mutation(c.376 C>T, p.Gln126 X) in exon 4 of the women. Conclusion In this case, the development of anti-Jr^(a) in Jr(a-) mother was stimulated by mother-child serology incompatibility during pregnancy.

关 键 词：Jr(a-)稀有血型 抗-Jr^(a) ABCG2基因 

分 类 号：R457.11[医药卫生—治疗学]