Molecular genetic basis of the histo-blood group ABO system

Abstract

The histo-blood group ABO, the major human alloantigen system, involves three carbohydrate antigens (ABH). A, B and AB individuals express glycosyltransferase activities converting the H antigen into A or B antigens, whereas O(H) individuals lack such activity. Here we present a molecular basis for the ABO genotypes. The A and B genes differ in a few single-base substitutions, changing four amino-acid residues that may cause differences in A and B transferase specificity. A critical single-base deletion was found in the O gene, which results in an entirely different, inactive protein incapable of modifying the H antigen.

New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing

“…Further, phenotypically relevant variants include a homozygous deletion (coverage depth ×7) at rs8176719, a T allele at rs505922 and lack of significant deletions in the RHD gene, which are characteristic of blood group O Rh-positive carriers 32,33 .…”

Genomic Cloning of the Human Histo-Blood Group ABO Locus

“…Intron sizes were determined by PCR amplification using flanking primers followed by hybridization with specific probes to the intron products. Expression o f A transferase in Sf9 cells : The putative soluble A transferase gene was produced by RT-PCR of poly(A)+ RN A from gastric cancer cell line MKN45 using the primers EPB83/EPB90 (5-TCGAATTCGCCCCAGAAGTCTAATGCCAG and 5-TCGAATTCTGGCAGCCGCTCACGGGTTCC) located in exon III and VII, respectively (7). The DNA was cloned into the EcoRI site of pT7T3U19 (Pharmacia), followed by subcloning into the EcoRI site of the baculovirus transfer vector pACGP67.…”

O-gene detection by allele specific amplification in the ABO blood group system

“…Their primers were overlapped at numbers 237-258 bases for a sense primer and 257-276 bases for an anti-sense primer from O-gene cDNA and they used a complex reaction mixture and a radioisotope for detection of the PCR product. Yamamoto et al (1990b) and Lee and Chang (1992) reported PCR-RFLP method. This method was used most popularly at this time.…”

“…Determination of ABO genotype from peripheral blood leukocytes was first presented by Yamamoto et al (1990b). Several variations were developed by using PCR-RFLP method (Lee and Chang, 1992), allele specific PCR (AS-PCR) method (Ugozzoli and Wallace, 1992), and PCR-denaturing gradient gel electrophoresis (PCR-DGGE) method (Johnson and Hopkinson, 1992).…”