Molecular Biology Analysis of A Rare Variant RhD * Weak D Type 2 Blood Type
10.3969/j.issn.1671-7414.2025.05.026
- VernacularTitle:一例罕见变异型RhD*weak D type 2血型的分子生物学分析
- Author:
Renlong ZHOU
1
;
Cuiyun ZHANG
;
Jinyu MA
;
Guoqing HUANG
Author Information
1. 深圳市龙华区中心医院输血科,广东 深圳 518110
- Publication Type:Journal Article
- Keywords:
RhD blood type;
gene sequencing;
base mutations
- From:
Journal of Modern Laboratory Medicine
2025;40(5):141-144
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyse molecular biology for confirmed weak agglutination in blood group serology RhD,and explicit the reason for the antigen weakening.Methods One person who underwent a blood type serdogical test in Shenzhen in 2023 and was found to have weak D was selected as the research subject.Primer-polymerase chain reaction(SSP-PCR)was used to detect the RhD,RhC and RhE genotypes,and sunger sequencing was used to analyze the RhD,RhC and RhE gene sequences.Results The results of anti-D by microcolumn agglutination method were weakly agglutinated,and the results of anti-D by saline test tube method were negative,and the results of irregular antibody screening and direct anti-human globulin test were negative.The sequencing results showed that the sample had an insertion signal in exon 9,and the mutation was consistent with RhD*weak D type 2,GenBank:OM925755.1 according to the NCBI genebank alignment.Conclusion The serologic test result of the subject's blood group is weak D,which may be due to the gene mutation cause by the insertion of the first base of RhD exon 9,which cause the translation of the first amino acid of the exon from glycine to alanine,and cause the subsequent gene mismatch to cause the translation of amino acids,thereby weakening the expression of RhD blood group antigen.
