摘要
目的对1例血型血清学RhD为弱凝集的受试者进行分子生物学分析,明确其抗原减弱原因。方法选择2023年深圳市出关体检血型血清学检测为弱D的1例体检人员作为研究对象,采用序列特异性引物-聚合酶链式反应(SSP-PCR)对RhD,RhC,RhE基因型进行检测,使用Sanger测序法对RhD,RhC,RhE基因序列进行测序分析。结果该受试者与微柱凝集法抗-D为弱凝集,盐水试管法抗-D结果为阴性,不规则抗体筛查与直接抗人球蛋白试验结果均为阴性。Rhesus盒检测结果为上游RhD阳性,表明至少存在1段为部分D等位基因,或者下游RhD至少存在1段为部分D等位基因。基因测序结果提示该样本在第9外显子出现插入信号,根据NCBI genebank比对,该突变符合RhD*weak D type 2,GenBank:OM925755.1。结论该受试者血型血清学检测结果为弱D,主要原因可能为RhD外显子9第1碱基出现C碱基插入引发基因突变,致使外显子第一个氨基酸由甘氨酸翻译为丙氨酸,并引发后续基因错配导致氨基酸翻译错乱,从而使RhD血型抗原表达变弱。
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 thefirst base of RhD exon 9,which cause the translation of thefirst 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.
作者
周仁龙
张翠云
马金玉
黄国清
ZHOU Renlong;ZHANG Cuiyun;MA Jinyu;HUANG Guoqing(Department of Blood Transfusion,Shenzhen Longhua District Central Hospital,Guangdong Shenzhen 518110,China;Shenzhen Aikang Reagent Co.LTD,Guangdong Shenzhen 518122,China)
出处
《现代检验医学杂志》
2025年第5期141-144,共4页
Journal of Modern Laboratory Medicine
关键词
RHD抗原
基因测序
碱基突变
RhD blood type
gene sequencing
base mutations
