A c.955C>G Variation Causing ABO Allelic Enhancement Phenomenon：A Case and Literature Review

doi:10.3969/j.issn.1671-2587.2022.02.003

JOURNAL OF CLINICAL TRANSFUSION AND LABORATORY MEDICINE ›› 2022, Vol. 24 ›› Issue (2): 147-150.DOI: 10.3969/j.issn.1671-2587.2022.02.003

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A c.955C>G Variation Causing ABO Allelic Enhancement Phenomenon：A Case and Literature Review

FENG Chen-chen, SHI Li-li, LI Hui, et al

Jiangsu Province Blood Center, Nanjing 210042

Received:2021-09-30 Published:2022-04-12

Abstract

Abstract: Objective To identify genotype of ABO subtype and to analyze the heredity of ABO allelic enhancement. Methods ABO blood grouping were identified by serological methods. The full coding regions of the ABO gene, the upstream CBF/NF-Y enhancer region, promoter, and the erythroid cell-specific regulatory elements in intron 1 were nucleotide sequenced. Exons 6 and 7 of the ABO gene were clone sequenced. Results Serological result showed A_subB. Gene sequencing showed A/B heterozygous genotype. The haplotype sequencing analysis revealed that one allele was ABO*A1.02 with a c.955C>G variation, and the other allele was ABO*B.01. Conclusion Allelic enhancement occurs when A allele carries the c.955C>G （p.Leu319Val） variation and both A and B allele were inherited simultaneously.

Key words: ABO subtype, Allelic enhancement, Gene sequencing

CLC Number:

R457.1⁺1

FENG Chen-chen, SHI Li-li, LI Hui, et al. A c.955C>G Variation Causing ABO Allelic Enhancement Phenomenon：A Case and Literature Review[J]. JOURNAL OF CLINICAL TRANSFUSION AND LABORATORY MEDICINE, 2022, 24(2): 147-150.

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A c.955C>G Variation Causing ABO Allelic Enhancement Phenomenon：A Case and Literature Review

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