Methylation of CpG island in ABO gene promoter coding glycosyltransferase with dual donor specificity

doi:10.3969/j.issn.2095-4344.2013.31.015

Abstract

Abstract:

BACKGROUND: During the research of ABO blood type antigen, the overwhelming majority samples of same ABO gene express a normal and same ABH antigen. But a certain amount samples with the same ABO genetic background show different antigen intensity expression as for different family or individuals. The ABO blood type has complex expression regulation mechanism. Analysis of ABO blood group serology and genetic background of these rare bi-specific AB phenotype specimens, and further studying on epigenetics may partly revealed ABO gene expression mechanism.
OBJECTIVE: To study methylation of CpG island and explore the relationship between ABO gene promoter coding glycosyltransferase with dual donor specificity and ABH antigen expression.
METHODS: Six samples detected as CisAB or B(A) phenotype were studied in this paper. The whole code sequences and promoter sequence of ABO gene were amplified respectively. The level of CpG methylation in promoter of ABO gene was further detected with bisulfite treatment method．
RESULTS AND CONCLUSION: Among the six bi-specific AB phenotype samples, two previously-identified CisAB05/B(A)06 alleles with nt803C > G on the basis of B101 allele sequence could be seen, and three additional methylated sites nt-33(30%), nt+27(50%) and nt+49(50%) were found between the two regions of CpG island in promoter of ABO gene. Two CisAB01 alleles with nt803C > G mutation on the basis of A101 sequence were found at nt-26C(10%). Other two B(A)04 alleles contained nt640A > G mutation on the basis of B101 sequence were found in the whole code sequences regions, and six additional methylated sites nt-33(10%), nt+16(50%), nt+57(60%), nt+59(60%), nt+68(60%) and nt+74(60%) were found between the two samples. No abnormity was identified in the promoter region of ABO gene. Our results indicated that the differential methylation levels in the CpG island of ABO gene promoter region may affect ABH antigens expression on the red cell membrane even if the samples had the same ABO genetic background.

Key words: organ transplantation, basic experiments of organ transplantation, ABO blood type, ABO blood grouping discrepancies, ABO gene, glycosyltransferase with dual donor specificity, promoter, sequence analysis, polymorphism, CpG island, gene methylation, epigenetics

CLC Number:

R318

Yu Qiong, Su Yu-qing, Zhen Jian-xin, Deng Zhi-hui . Methylation of CpG island in ABO gene promoter coding glycosyltransferase with dual donor specificity[J]. Chinese Journal of Tissue Engineering Research, doi: 10.3969/j.issn.2095-4344.2013.31.015.

Figures/Tables 4

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