Abstract：Objective To study a case of ABO subtype and its genetic characteristics. Methods Tube method was used toperform the serological identification of ABO blood group in 7 samples from 3 generations of one family. Polymerase chain reaction-sequence specific primer (PCR-SSP) assay was used for genotyping the samples with inconsistent positive and negative results. The sequence of exon 6 and 7 of ABO gene was analyzed. Results Among the 7 samples detected, the positive and negative typing of 3 samples was not consistent, and the blood group serological test was different: 2 cases showed cisAB/A or ABx, and 1 case showed cisAB/O or A2Bx. The genotypes were ABO* cisAB01/A101 and ABO* cisAB01/O01. ABO gene sequence analysis revealed that there were 467C>T and 803G>C mutations in exon 7 of ABO* cisAB01/A101, G was missing in 261 of ABO* cisAB01/O01 in exon 6, and there were mutations in 467C>T and 803G>C in exon 7. Sequence analysis displayed that ABO* cisAB01 was detected in all the samples. Conclusion ABO * cisAB01 can induce weak expression of A or B antigens, and can be inherited stably. Blood group serology and molecular biological methods should be combined to accurately identify ABO subtypes.
杨红梅, 邹昕, 徐立. 常州地区首例cisAB血型基因特征分析及家系调查[J]. 实用预防医学, 2022, 29(4): 439-442.
YANG Hong-mei, ZOU Xin, XU Li. Genetic characteristics and pedigree of the first case of cisAB blood group in Changzhou area. , 2022, 29(4): 439-442.
2022, Vol. 29 
