临床输血与检验2017，Vol.19Issue(2)：178-182,5.DOI:10.3969/j.issn.1671-2587.2017.02.025
ABO血型基因变异体引起正反定型不合1例
A Case Report of Forward/Reverse Blood Grouping Discrepancy Resulting from ABO Gene Variant
赵领军1
作者信息
- 1. 054000 河北省邢台市第三医院检验科
- 折叠
摘要
Abstract
Objective To analyze a discrepancy in results of forward/reverse ABO blood grouping with molecular analysis and provide knowledge for safe blood transfusion.Methods Column gel testing was used for serological ABO blood grouping. Genomic DNA was extracted from whole blood and PCR-SSP was used for ABO genotyping. PCR was performed to amplify ABO exons1 to7 and the amplification products were sequenced directly. The obtained sequences were compared with wild type A101 to identify sequence variation. Results Blood grouping indicated the discrepant results of forward/reverse ABO typing. Forward typing produced blood group O,while reverse typing produced blood group A as only anti-B isoagglutinins were present. A monoclonal anti-AB antibody detection revealed a weak agglutination with patient''s RBCs. ABO genotyping with PCR-SSP indicated a heterozygous O1/A type,and further PCR and ABO exons sequencing identified a new 248A>G missense mutation in exon6,whichled to the replacement of Aspartate at position83 with glycine. PCR-SSP using newly designed248A>G mutation-specific primer was performed to investigate the frequency of this new mutation among regular blood donors but none turned out to be positive.Conclusions This ABO gene248A>G mutation is associated with the absence of anti-A isoagglutinins and weak A antigen expression.关键词
ABO血型基因分型序列特异性引物聚合酶链反应/DNA测序基因变异体Key words
ABO/blood/group/Genotyping/PCR-SSP/DNA/sequencing/Gene/variant分类
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赵领军..ABO血型基因变异体引起正反定型不合1例[J].临床输血与检验,2017,19(2):178-182,5.
