摘要
目的通过分子生物学方法鉴定1例ABO亚型,并进行家系调查,研究该亚型血清学和分子遗传学特点。方法采用血型血清学和分子生物学方法检测1例ABO血型鉴定困难患者并进行家系调查。结果测序结果显示先证者的基因型为A102/Bw07,Bw07等位基因是在B101等位基因基础上发生nt1055的G>A而引起的;家系调查提示A102/Bw07、A101/Bw07血型血清学表型为AB_(w),Bw07/001的B抗原表达正常。结论在四川汉族人群中发现Bw07等位基因;Bw07等位基因表达有异质性;检出Bw07等位基因的个体血浆中可含有抗-B抗体。
Objective To identity the ABO subtype in one case by molecular biology method,and study the serological and molecular genetic characteristics of this subtype by family investigation.Methods Serological and molecular biological methods were used to detect one patient with difficulty in ABO blood group identification and the family investigation was carried out.Results The sequencing results showed that the genotype of the proband was A102/Bw07,and the Bw07 allele was caused by the occurrence of G>A of nt1055 on the basis of the B101 allele.The serological phenotype of blood group A102/Bw07 and A101/Bw07 was ABw,and the expression of B antigen of Bw07/001 was normal.Conclusion Bw07 allele is found in Sichuan Han population;The expression of Bw07 allele is heterogeneous;Individuals with the Bw07 allele may have anti-B antibodies in their plasma.
作者
许基平
何屹
田力
杨静
刘自强
Xu Jiping;He Yi;Tian Li(The Third People′s Hospital of Chengdu,Chengdu,Sichuan 610031;People′s Hospital of Sichuan Province,Chengdu,Sichuan 610072;Institute of Blood Transfusion,Chinese Academy of Medical Sciences,Chengdu,Sichuan 610081,China)
出处
《四川医学》
CAS
2023年第5期514-518,共5页
Sichuan Medical Journal
