Extensive polymorphism of ABO blood group gene: three major lineages of the alleles for the common ABO phenotypes

  title={Extensive polymorphism of ABO blood group gene: three major lineages of the alleles for the common ABO phenotypes},
  author={Kenichi Ogasawara and Makoto Bannai and Naruya Saitou and Ryuichi Yabe and Kenichi Nakata and Michiko Takenaka and Kiyoshi Fujisawa and Makoto Uchikawa and Yoshihide Ishikawa and Takeo Juji and Katsushi Tokunaga},
  journal={Human Genetics},
Polymorphism of the ABO blood group gene was investigated in 262 healthy Japanese donors by a polymerase chain reactions-single-strand conformation polymorphism (PCR-SSCP) method, and 13 different alleles were identified. The number of alleles identified in each group was 4 for A1 (provisionally called ABO*A101, *A102, *A103 and *A104 according to the guidelines for human gene nomenclature), 3 for B (ABO*B101, *B102 and *B103), and 6 for O (ABO*O101, *O102, *O103, *O201, *O202 and *O203… 
Genetic Characterisation of Human ABO Blood Group Variants with a Focus on Subgroups and Hybrid Alleles
A new approach to ABO genotyping was developed that identifies all common alleles, most null and weak A/B subgroups as well as hybrid alleles resulting from recombinational crossing-over events.
Single-tube multiplex PCR-SSCP analysis distinguishes 7 common ABO alleles and readily identifies new alleles
Thistech- nique is the simplest, quickest, and most informative method reported to date and also readily identifies new alleles.
Molecular polymorphism of O alleles in the Chinese Han population.
The novel O allele without 261G deletion has been found in Chinese for the first time and suggests that the O01 allele prevails, with O1v accounting for about 97% of these in the Chinese Han population.
A Novel Ael allele derived from a unique 816insG in Exon 7 of the ABO gene.
Identification of a novel O allele in the Taiwanese population.
The results indicated that the ABO gene in the Taiwanese population consists mainly of the A1, A1v, B, O1, and O1v alleles, and a novel O allele designated as OTaiwan was identified that has G --> T substitution at the nucleotide 801 of the O1 allele.
Heterogeneity of O blood group in India: Peeping through the window of molecular biology
O01O02 genotype is expressing some selective force in population groups screened in India as well as many other groups worldwide, suggesting that there is an internal heterogeneity in the mixed group while Dhodias and Parsis, the groups which were screened earlier, seem to be more homogenous groups.
Brief communication: Molecular characterization of O alleles at the ABO locus in Chilean Aymara and Huilliche Indians.
F Frequencies for alleles O1 and O1v obtained in the Chilean populations studied concur with the results obtained by other authors, respecting the greater frequency of allele O2v as well as with its heterogeneous distribution in aboriginal South American populations.
Polymorphisms in the ABO blood group gene in three populations in the New Georgia group of the Solomon Islands
Polymorphisms of exons six and seven of the ABO blood group gene (ABO) were investigated in three populations—Munda town, Paradise village, and Rawaki village—in the New Georgia group of the Solomon Islands, suggesting that the main alleles in Oceanian populations are ABO*A101, ABO*.
Alleles responsible for ABO phenotype-genotype discrepancy and alleles in individuals with a weak expression of A or B antigens.
A simple ABO genotyping method using multiplex sequence-specific PCR and capillary electrophoresis was developed as a supplement to serological ABO typing, finding that one discrepant sample contained an O allele having a previously unreported point mutation at the primer binding site in exon 6.


Evaluation of Histo‐Blood Group ABO Genotyping in a Danish Population: Frequency of a Novel O Allele Defined as O2
The results clearly demonstrate that with the addition of the two distinctly different O alleles, O1, O2, the previously proposed molecular genetic basis of the ABO polymorphism is quite valid, and establishes within the limits of the number of samples tested that ABO genotypes can be assessed directly by non‐allele specific PCR amplification and restriction enzyme analysis.
Molecular Genetic Analysis of the ABO Blood Group System: 3. Ax and B(A) Alleles
The nucleotide sequences of the coding region in the last two coding exons of the histo‐blood group ABO genes from one Ax and one B(A) individual are determined using a PCR approach suggesting the involvement of this amino acid or its surrounding area for the recognition and/or binding of the donor nucleotide sugars.
Molecular Genetic Analysis of the ABO Blood Group System: 1. Weak Subgroups: A3 and B3 Alleles
Heterogeneity among these weak subgroups at the nucleotide level is demonstrated for the first time among ABO genes with weak subgroup phenotypes with two cases of the A3 allele and 1 case of the B3 allele found to contain a single‐base substitution which resulted in an amino acid substitution.
Genotyping of ABO blood groups by PCR and RFLP analysis of 5 nucleotide positions
The genotyping of ABO blood groups was performed using the polymerase chain reaction (PCR) method, and the amplified DNA subjected to restriction fragment length polymorphism (RFLP) analysis clearly distinguished by electrophoresis of the PCR products amplified with allele-specific primers.
A rapid and reliable PCR method for genotyping the ABO blood group
A method to determine the ABO genotype directly from human DNA using multiplex PCR and restriction enzyme analysis and the use of complementary pairs of enzymes prevents the assignment of a false genotype as a result of false negative or partial digestion.
Molecular Bases of the ABO Blood Groups of Indians from the Brazilian Amazon Region
DNA sequencing of limited regions of the gene supports the conclusion that the gene basis of blood group O is the deletion of a single nucleotide at position 258 of the glycosyltransferase A gene, similar to that observed in Caucasoids and Negroids.
Detection of ABO blood group polymorphism by denaturing gradient gel electrophoresis.
We report the use of a polymerase chain reaction (PCR) format together with denaturing gradient gel electrophoresis (DGGE) which allows rapid identification of the 6 major genotypes (AA, AO, BB, BO,
Molecular Genetic Analysis of the ABO Blood Group System: 4. Another Type of O Allele
An allele which seems to be another type of O allele at the human histo‐blood group ABO locus is encountered and the nucleotide sequence of this allele is determined over the coding region in the last two coding exons.
Molecular Genetic Analysis of the ABO Blood Group System: 2. cis‐AB Alleles
The nucleotide sequence of the coding region in the last two coding exons of ABO genes from two cis-AB individuals (genotype cis‐AB/O) with no consanguinity is determined.