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Sequences variations in 5′‐flanking region of ABO gene and correlation with ABO alleles in the indigenous Chinese
Author(s) -
Yan L.,
Zhu F.,
Liu Y.,
Xu X.,
Hong X.
Publication year - 2008
Publication title -
vox sanguinis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.68
H-Index - 83
eISSN - 1423-0410
pISSN - 0042-9007
DOI - 10.1111/j.1423-0410.2007.01013.x
Subject(s) - abo blood group system , allele , genetics , indigenous , biology , gene , ecology
Background and Objectives 5′‐flanking sequences of the ABO gene play important role in the regulation of gene expression, but polymorphism of 5′‐flanking sequence of ABO gene is rarely known. Here, we further characterize the molecular genetic basis and ABO allele‐related polymorphism of the 5′‐untranslated regions (5′‐UTR) of the human ABO gene. Materials and Methods Collecting blood samples from 72 blood donors in Hangzhou, China, we analysed sequences of exons 6 and 7 of ABO gene and amplified an enhanced segment of 43 bp repeats in the 5′‐UTR. Subsequently, we selected 25 homozygotes [of genotypes A101/A101 (two), A102/A102 (seven), B101/B101 (seven) and O01/O01 (nine)] and five heterozygotes [A102/O01 (two), B101/O01 (two) and O01/O105 (one)] for sequencing 5 ‐kb amplicons spanning the 5′‐UTR and partial exon 1 of the ABO gene. We sequenced the amplicons bidirectionally and, when pertinent, analysed selected haplotypes by cloning. Results As a result, we identified 11 new polymorphic sites (10 point mutations, one 8‐bp deletion) in the 5′‐UTR of the A102, B101 and O01 alleles of common ABO phenotypes. Five A102 alleles carry four tandem repeats of a 43‐bp minisatellite unit that deviated from previous reports. Conclusion The results revealed the DNA polymorphisms in the 5′‐UTRs correlated with the common ABO alleles. Elucidation of the diversity of the 5′‐UTRs is an important supplement to existing methods for increasing our understanding of the molecular basis of the ABO blood group system.