摘要
目的鉴定罕见的B(A)02/O02亚型,选择合适血液进行配血。方法应用血型血清学鉴定表型,利用分子生物学对血液标本第6、7外显子进行基因测序,并做家系调查。结果先证者和其父亲标本血清学鉴定疑似B(A),H物质较正常B型明显增强,血清中产生不规则抗-A;经基因测序后,2例标本的第6外显子有O02等位基因,其B等位基因的第7外显子发生700C>G突变。结论经血清学和分子生物学检测后,2例标本均证实为B(A)02/O02,为先证者选择O型洗涤红细胞和AB浆输血治疗。
Objective To discriminate rare B（A）02/O02 subtype, and to select appropriate blood for crossmatching. Methods The phenotypes were identified by using routine serological methods. Complete regions of sixth and seventh exons in the ABO gene were amplified, and their products were directly sequenced by PCR to determine the genotypes. Results Two samples of the proband and her father were preliminarily determined as B （A） phenotype through the serological methods. Their H substances on RBC were apparently stronger than those of normal B types, and irregular anti-A antibody was detected in their serum. From PCR, 002 allele was found in the sixth exon, and 700 C 〉 G mutation showed at the seventh exon of B gene. Conclusion Both of them were confirmed as B（A）02/O02 genotype by way of serological and molecular genetic methods. O type washed RBCs and AB type plasma were selected for transfusion.
出处
《中国输血杂志》
CAS
北大核心
2015年第9期1097-1099,共3页
Chinese Journal of Blood Transfusion
