abo blood group alleles and genetic recombination

Functional A Allele Was Resurrected via Recombination in

Jan 27, 2012 · Functional A and B alleles are distinguished at two critical sites in exon 7 of the human ABO blood group gene. The most frequent nonfunctional O alleles have one-base deletion in exon 6 producing a frameshift, and it has the A type signature in two critical sites in exon 7. Heterogeneity of the blood group Ax allele:genetic Heterogeneity of the blood group Ax allele:genetic recombination of common alleles can result in the Ax phenotype . By Martin L Olsson and Alan Chester. Cite . BibTex; Full citation Abstract. The Ax phenotype is an important subgroup of the ABO blood group system. The Ax phenotype is an important subgroup of the ABO blood group system. Its

Heterogeneity of the blood group Ax allele:genetic

Takashi Kitano, Antoine Blancher, Naruya Saitou, The Functional A Allele Was Resurrected via Recombination in the Human ABO Blood Group Gene, Molecular Biology and Evolution, 10.1093/molbev/mss021, 29, 7, (1791-1796), (2012). Sequence variation at the human ABO locus.The ABO blood group is the most important blood group system in transfusion medicine. Since the ABO gene was cloned and the molecular basis of the three major alleles delineated about 10 years ago, the gene has increasingly been examined by a variety of DNA-based genotyping methods and analysed in detail by DNA sequencing. The ABO blood group gene:a locus of considerable genetic Jul 01, 2001 · The blood group ABO gene shows considerable polymorphism in most of the 7 exons. Introns examined so far have also shown blood group-related polymorphisms, as has an upstream enhancer region. Several polymorphisms affect the specificity of the gene product (glycosyltransferase) and explain the occurrence of blood group A and B. Various lethal

The nature of diversity and diversification at the ABO

Singular mutations or hybrid alleles were most common, but a few exhibited mosaic sequence pattern containing multiple exon and/or intron motifs from other ABO lineages. Thus, both an accumulation of mutations as well as an assortment of the mutations by recombination seems to be responsible for the ABO gene diversity.A de novo recombination in the ABO blood group gene and Cloning a part of the ABO gene, PCR-amplified from the trio's genomes, followed by sequencing the cloned fragments, showed that one allele of the child had a hybrid nature, comprising exon 6 of the B allele and exon 7 of the O1 allele. Based on the evidence that exon 7 is crucial for the sugar-nucleotide specificity of A1 and B transferases and that the O1 allele is only specified by the 261G deletion in exon 6 of the consensus sequence of the A1 allele