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摘要: 目的:探讨ABO血型B抗原表达减弱样本的分子生物学机制,并对其家系ABO血型反应格局特征进行分析。方法:采用微柱凝集法及盐水试管法进行ABO血型血清学检测;PCR产物直接测序对ABO基因第1~7外显子进行ABO血型基因分型及序列分析。结果:血清学检测结果显示患儿为ABweak,患儿母亲为Bweak,患儿B抗原表达弱于母亲且有抗B抗体的产生;分子生物学结果显示患儿基因型为ABO*A1.02/ABO*B3.02,患儿母亲基因型为ABO*B3.02/ABO*O.01.02。结论:患儿及其母亲ABO血型B抗原表达减弱存在家系遗传性质,均表现为B3型;但二者B抗原表达情况及抗A产生强度均有所不同,可能由于患儿A等位基因竞争抑制作用导致,同时是否与患儿免疫系统未发育完全有关,值得进一步关注。Abstract: Objective: To explore the molecular biological mechanism of ABO blood group B antigen expression weakening in samples, and analyze the characteristics of ABO blood group response pattern in their families.Methods: ABO blood group was detected by microcolumn agglutination method and saline test tube method. ABO blood group genotyping and sequence analysis were performed by direct sequencing of the PCR products of exon 1-7 of ABO gene.Results: Serological test results showed that the child had ABweak and the mother had Bweak, the expression of B antigen in the child was weaker than that in the mother, and the production of anti-B antibody was also produced. Molecular biological results showed that the genotype of the children was ABO*A1.02/ABO*B3.02, and the genotype of the mother was ABO*B3.02/ABO*O.01.02.Conclusion: The decreased expression of ABO blood group B antigen in the children and their mothers had a genealogical character, and all of them were B3 type. However, the expression of B antigen and the intensity of anti-A production were different between the two, which may be caused by the competitive inhibition of A allele in children. At the same time, whether it is related to the incomplete development of the immune system in children is worth further attention.
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Key words:
- children /
- B antigen attenuated /
- pedigree /
- DNA sequencing
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[1] 杨璇,郭思维,洪强.A亚型患者血型鉴定流程及输血策略研究[J].中国卫生标准管理,2019,10(23):131-134.
[2] 康丹,郝一文.1例ABO正反定不符的血型分子生物学鉴定[J].临床血液学杂志,2019,32(10):810-812.
[3] 赵倩,苏蔓,李茵等.B(A)血型与cisAB血型的血清学表型及基因型研究[J].临床血液学杂志,2020,33(8):521-524.
[4] Takahashi Y,Isa K,Sano R,et al.Presence of nucleotide substitutions in transcriptional regulatory elements such as the erythroid cell-specific enhancer-like element and the ABO promoter in individuals with phenotypes A3 and B3,respectively[J].Vox Sang,2014,107(2):171-180.
[5] Cai X,Jin S,Liu X,et al.Molecular genetic analysis of ABO blood group variations reveals 29 novel ABO subgroup alleles[J].Transfusion,2013,53:2910-2916..
[6] 张钰,李炜华,蔡杰等.一例B(A)血型的血清学及分子生物学鉴定[J].临床检验杂志,2020,38(10):758-760.
[7] 许志远,刘凯,庄光艳,等.一例B(A)血型患者及其家系的血型血清学和分子生物学研究[J].北京医学,2020,42(2):149-152.
[8] 宁宇.ABO血型亚型检测及血清学分析[J].中国医药指南,2019,17(35):47-47.
[9] Jiao LX,Zhang JY,Chen L,et al.Gene identification of rare B(A)blood group[J].Transfus Apher Sci,2017,56(6):855-857.
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