摘要
目的对3例ABO变异型Bw亚型进行基因鉴定及序列分析。方法采用常规血清学检测ABO血型,并应用Sanger测序进行ABO基因鉴定。结果3例ABO血型鉴定均符合Bw亚型,基因分型分别为ABO*Bw.11/0.01.02、ABO*Bw.12/0.01.01、ABO*Bw.34/A1.02,测序发现分别存在c.695T>C变异致多肽链Leu232Pro替换,c.278C>T变异致多肽链Pro93Leu替换,c.889G>A变异致多肽链Glu297Lys替换。结论本研究分别发现了Bw11、Bw12、Bw34亚型各一例。基因检测可作为血清学结果的补充确定ABO血型的亚型。
Objective To identify and analysis three ABO variant Bw subtypes.Methods Serological assays were carried out to identify the ABO blood group of the proband.ABO gene was identified by Sanger sequencing.Results The genotype of three individuals are ABO*Bw.11/0.01.02,ABO*Bw.12/0.01.01,ABO*Bw.34/A1.02,receptively.Sequencing results showed that there were c.695T>C,c.278C>T,c.889G>A,resulting in variants in Leu232Pro,Pro93Leu and Glu297Lys,receptively.Conclusion Bw11,Bw12 and Bw34 subgroups were identified,and gene testing can be used as a supplement to determine the ABO blood group subtypes.
作者
陈静思
袁雯靖
贺冰冰
朱碎永
林甲进
Chen Jingsi;Yuan Wenjing;He Bingbing;Zhu Suiyong;Lin Jiajin(The Second Affiliated Hospital and Yuying Children′s Hospital of Wenzhou Medical University,Wenzhou,Zhejiang 325027,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2022年第9期1021-1024,共4页
Chinese Journal of Medical Genetics
基金
温州市科技计划(Y2020950,Y20210104)
贺林院士新医学临床转化工作站科研基金重点项目(18331104)。
