一例部分D血型表型及基因型鉴定分析

Phenotype and genotype identification of a case of partial D blood group

目的分析RhD变异体的血清学特征并进行RhD基因检测。方法采用微柱凝胶法对2023年平邑县人民医院收治的一例RhD变异体患者血型进行血清学分析,采用SSP-PCR法进行RhD基因型检测,对患者血液标本的基因组DNA进行全外显子测序(WES)确定与其表型相关的突变,同时采用Sanger测序验证变异位点。结果患者血清学结果显示为D变异型,RhD基因测序结果显示外显子1,3-7,9有突变。结论外显子1,3-7,9有突变,该患者样本基因与RHD*01.01和RHD*01N.04相符,基因型为D+/D-型,表型为部分D型。应对D变异体进行分型研究,从而采取合理的输血策略。

Objective To analyze the serological characteristics of RhD variants and perform RhD gene testing.Methods Serological analysis of the blood type of a RhD variant patient admitted to People's Hospital of Pingyi County in 2023 was performed by microcolumn gel method,and RhD genotype detection was detected by SSP-PCR.Whole exome sequencing(WES)was performed on genomic DNA of blood samples of the patients to determine the mutation related to the phenotype,and Sanger sequencing was used to verify the mutation site.Results The serological results showed D variant,and RhD gene sequencing results showed mutations in exons 1,3-7,9.Conclusion There were mutations in exons 1,3-7,9.The gene of the patient's sample was consistent with RHD*01.01 and RHD*01N.04,the genotype was D+/D-,and the phenotype was partial D.The D variant typing should be studied so that a rational transfusion strategy can be adopted.