[Genetic analyses of the genotypes of ABO and cisAB blood groups]. 1993

E Hosoi, and K Yoshikawa
Department of Medical Technology, School of Medical Sciences, University of Tokushima.

The genotypes of genomic DNAs of 20 normal subjects with ABO blood group and 12 subjects with cisAB blood group were analysed using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) and a combination of PCR-RFLP and direct sequencing method, respectively. To identify the codon 87, 249 bp DNA fragment was amplified by PCR and digested with Bst EII and Kpn I. To identify the codon 176, 506 bp DNA fragment was amplified by PCR and digested with Bss HII and Ban I. To identify the codon 235, 266 and 268, 506 bp DNA fragment was amplified by PCR and determined by direct sequencing. Analyses of the digested DNA fragments of codon 87 and 176 in 20 normal subjects with ABO blood group revealed the ratio of homotype (AA, 20%; BB, 20%) and heterotype (AO, 80%; BO, 80%) in subjects with phenotype A or B. Same results were obtained in subjects with phenotype AB or O. The analyses of nucleotide sequence at codons 87, 176, 235, 266 and 268 in 12 subjects with cisAB blood group (6 cisA2B3, 3 cisA2 B and 3 cisA1B3) revealed chimera structure of A allele and B allele on the same gene. These results indicate the usefulness of PCR-RFLP method for determining the genotype of A and B bloods group, and a combination of PCR-RFLP and direct sequencing for determining the genotype of cisAB blood group.

UI MeSH Term Description Entries
D008297 Male Males
D012150 Polymorphism, Restriction Fragment Length Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment. RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D002678 Chimera An individual that contains cell populations derived from different zygotes. Hybrids,Chimeras,Hybrid
D004247 DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D005260 Female Females
D005838 Genotype The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. Genogroup,Genogroups,Genotypes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000017 ABO Blood-Group System The major human blood type system which depends on the presence or absence of two antigens A and B. Type O occurs when neither A nor B is present and AB when both are present. A and B are genetic factors that determine the presence of enzymes for the synthesis of certain glycoproteins mainly in the red cell membrane. ABH Blood Group,ABO Blood Group,ABO Factors,Blood Group H Type 1 Antigen,H Blood Group,H Blood Group System,ABO Blood Group System,Blood Group, ABH,Blood Group, ABO,Blood Group, H,Blood-Group System, ABO,Factors, ABO,System, ABO Blood-Group
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000483 Alleles Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. Allelomorphs,Allele,Allelomorph

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