[p血型罕见病例的血清学和分子生物学分析]。

Jia-Hui Wang, Na Zhang, Hai-Yan Huang
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引用次数: 0

摘要

目的通过患者血型血清学检测和分子生物学检测结果,明确患者血型和血型抗体的特异性,为患者寻找匹配血液:方法:采用血型血清学方法鉴定红细胞 ABO、RhD 和 p 血型。盐水法、微柱凝胶法和 IAT 法用于不规则抗体筛选和抗体特异性鉴定。采用正反桑格测序法对A4GALT基因的第三外显子(CDS序列)进行特异性扩增,确定基因突变位点和基因型:结果:患者的血清学血型为 B 型和 D 型阳性,显示为 p 表型。同时在血清中检测到抗 Tja,进一步对 A4GALT 基因外显子进行测序,在 559 碱基处出现 G>C 的同源突变,基因型 ISBT 命名为 A4GALT*01N.10。分子生物学验证证实其为 p 血型。血清学方法证实患者血清中含有抗 Tja:结论:通过血清学和分子生物学方法联合鉴定稀有血型-p 血型对临床安全输血具有重要意义。
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[Serological and Molecular Biological Analysis of Rare Cases of p-Blood Type].

Objective: To clarify the specificity of patient blood type and blood type antibody through patient blood type serological tests and molecular biology results, and to search for matching blood for patients.

Methods: Blood type serological methods were used for the identification of red blood cell ABO, RhD, and p blood type. Salt water method, microcolumn gel method and IAT method were used for irregular antibody screening and antibody specificity identification. Forward and reverse sanger sequencing was used to amplify specifically the third exon (CDS sequence) of the A4GALT gene, identify the mutation site and genotype of the gene.

Results: The patient's serological blood type was positive for type B and D, indicating a p phenotype. At the same time, anti-Tja was detected in the serum, and further sequencing of the A4GALT gene exon was performed, the homozygous mutation with G>C occurred at base 559, and the genotype ISBT was named A4GALT*01N.10. Molecular biology verification confirmed it to be p blood group. Serological methods confirm that the patient's serum contains anti-Tja.

Conclusion: The joint identification of the rare blood type-p blood type by serological and molecular biological methods is of great significance for safe clinical blood transfusion.

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来源期刊
中国实验血液学杂志
中国实验血液学杂志 Medicine-Medicine (all)
CiteScore
0.40
自引率
0.00%
发文量
7331
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