遗传性CisAB血型的血清学和基因型特征研究——附一例家系报告  

Study on serological and genetic characteristics of inherited CisAB blood group:a case report of CisAB family

作　　者：赵晖[1,2,3] 姜悦[4] 闫芳[5] 苗天红[5] 何喜友[1] 崔衢[6] 刘元波[1,6] 

机构地区：[1]首都医科大学附属北京天坛医院输血科,北京100050 [2]北京清华长庚医院 [3]清华大学医学中心 [4]首都医科大学附属北京天坛医院医务处 [5]北京市红十字血液中心 [6]首都医科大学附属北京天坛医院血液科

出　　处：《中国输血杂志》2015年第1期18-21,共4页Chinese Journal of Blood Transfusion

基　　金：国家自然科学基金面上项目(81272842);中国博士后科学基金(2012M520202)

摘　　要：目的研究1名cis AB血型患者及其家系的血型血清学及基因型特征。方法采用试管正反定型法筛查该家系3代共10例标本的血型;对于正反定型结果不一致的标本以PCR-SSP法作基因分型;采用直接测序法作DNA序列分析。结果血型血清学检测发现10名家系成员中,正反定型不相符4例:2例表型为A2B3、2例为A2B;基因型分型分别为:cis AB01/O02、CisAB01/B101。DNA序列分析:cis AB01/O02第6外显子261缺失G,第7外显子297A>G、467C>T、646T>A、681A>A、771C>T、803G>C和829G>C;CisAB01/B101第6外显子297A>G,第7外显子467C>T、803G>C、526C>G、657C>T、703G>A、796C>A、930G>A。结论确定了1个遗传性cis AB血型家系;发现具有cis AB01等位基因的标本其血清学表型检测结果不一致,考虑由cis AB杂合的等位基因差别所致。Objective To study serologic and genetic features of a patient family with four CisAB members. Methods The blood groups of ten members in three generations of a patient family were screened. Forward and reverse mismatched blood grouping in the samples were further tested serologically and genetically by PCR-SSP and DNA sequencing. Results Four members showed forward and reverse mismatched blood grouping, with two A2B3 phenotypes and two A2B. Two differ- ent genotypes were confirmed： CisABO1/O02 in A2 B3 and CisABO1/B1O1 in A2B. A sequencing analysis showed a deleted G （261） at the 6th exon, 297A 〉 G, 467C 〉 T, 646T 〉 A, 681A 〉 A, 771C 〉 T, 803G 〉 C and 829G 〉 C in the 7th exon of CisABO1/O02. A 297A 〉 G occurred at the 6th exon, 467C 〉 T, 803G 〉 C, 526C 〉 G, 657C 〉 T, 703G 〉 A, 796C 〉 A, 930G 〉 A at the 7th exon of CisABO1/BIO1. Conclusion An inherited CisAB blood group family with 4/10 CisAB members in three generations was verified. Two genotypes of CisAB were identified as CisABO1/O02 and CisABO1/BIO1. CisAB heter- ozygous alleles contributed to the differential phenotypes.

关 键 词：CisAB血型 基因型 表型 血型血清学、PCR-SSP DNA测序 ABO血型 

分 类 号：R457.11[医药卫生—治疗学] R392.21[医药卫生—临床医学]