Abstract：
Molecular characterization of a rare cis-AB blood group has not been done in the Indian subcontinent. Herein, we report a case of A2B3 blood group in an Indian patient which was subsequently confirmed to be a case of cis-AB phenotype. Blood grouping was performed by the column agglutination technique (CAT), conventional tube technique (CTT) and subsequently, whole exome sequencing for molecular analysis. The patient was initially typed as AB, RhD positive in forward grouping. However, serum grouping showed agglutination (2+) with the B red cells in CAT. In CTT, an extra reaction was observed with A1 red cells and a strong agglutination was seen with Anti-H lectin. Thus, the blood group was identified serologically as A2B3. During the next-generation sequencing, a total of 10 exonic variants in the ABO gene were filtered, of which 2 (rs8176747 and rs7853989) were found to be non-synonymous and occurring on the same allele. The other allele was found to be ABO*A1.01. The sample analyzed in the study was found to carry two previously reported nucleotide changes of cis-AB (c.803G > C and c.526C > G) on the same allele which had not been reported before. Transfusion requirement was managed with type O red cells and type AB plasma.
摘要：
在印度次大陆，尚未对罕见的顺式AB血型进行分子鉴定。在这里，我们报道了一名印度患者的A2B3血型病例,该病例随后被证实为顺式AB表型.用柱凝集技术(CAT)进行血液分组,传统的管技术(CTT)和随后的，全外显子组测序用于分子分析。患者最初被输入为AB，RhD在正向分组中为阳性。然而,血清分组显示CAT与B红细胞凝集(2+)。在CTT,在A1红细胞中观察到额外的反应，并且在抗H凝集素中观察到强烈的凝集。因此，血型血清学鉴定为A2B3.在下一代测序中，总共过滤了ABO基因中的10个外显子变体，其中2个（rs8176747和rs7853989）被发现是非同义的，并且发生在相同的等位基因上。发现另一个等位基因是ABO*A1.01。发现研究中分析的样品在相同等位基因上携带两个先前报道的顺式-AB的核苷酸变化(c.803G>C和c.526C>G),这在之前没有报道过。用O型红细胞和AB型血浆管理输血需求。
