scholarly journals Molecular Cloning and Characterization of Decay-Accelerating Factor Deficiency in Cromer Blood Group Inab Phenotype

Blood ◽  
1998 ◽  
Vol 91 (2) ◽  
pp. 680-684
Author(s):  
Li Wang ◽  
Makoto Uchikawa ◽  
Hatsue Tsuneyama ◽  
Katsushi Tokunaga ◽  
Kenji Tadokoro ◽  
...  
Keyword(s):  
Red Blood Cells ◽  
Blood Group ◽  
Blood Cells ◽  
Stop Codon ◽  
Japanese Woman ◽  
Blood Group System ◽  
Decay Accelerating Factor ◽  
Exon 2 ◽  
Reading Frame ◽  
Old Japanese

An additional decay-accelerating factor (DAF) mutation, designated as Inab phenotype in the Cromer blood group system, was recently identified in a 28-year-old Japanese woman (H.A.). The red blood cells of H.A., like those of other Inab phenotype individuals, were negative for Cromer system antigens, Cra, Tca, Dra, UMC, and IFC. The deficiency of DAF on the red blood cells of H.A. has been shown by immunoblotting with a murine monoclonal antibody to DAF. Molecular analysis has shown that H.A. is homozygous for a single nucleotide substitution, C1579→A, at the position 24 bp upstream of the 3′-end of exon 2 of the DAF gene. This substitution causes the activation of a novel cryptic splice site and results in the production of mRNA with a 26 bp deletion. The deletion introduces a reading frame shift and creates a stop codon immediately downstream of the deletion. Translation of mRNA would be terminated at the first amino acid residue of the second short consensus repeat (SCR2) domain (exon 3) of DAF. The functional domains of DAF's complement regulatory activity and the carboxy-terminal signal domains for glycosylphosphatidylinositol (GPI) anchoring are predicted to be lacking in H.A. Thus, there would be no DAF present on the cell surface.

scholarly journals Molecular Cloning and Characterization of Decay-Accelerating Factor Deficiency in Cromer Blood Group Inab Phenotype

Blood ◽  
1998 ◽  
Vol 91 (2) ◽  
pp. 680-684 ◽  
Author(s):  
Li Wang ◽  
Makoto Uchikawa ◽  
Hatsue Tsuneyama ◽  
Katsushi Tokunaga ◽  
Kenji Tadokoro ◽  
...  
Keyword(s):  
Red Blood Cells ◽  
Blood Group ◽  
Blood Cells ◽  
Stop Codon ◽  
Japanese Woman ◽  
Blood Group System ◽  
Decay Accelerating Factor ◽  
Exon 2 ◽  
Reading Frame ◽  
Old Japanese

Abstract An additional decay-accelerating factor (DAF) mutation, designated as Inab phenotype in the Cromer blood group system, was recently identified in a 28-year-old Japanese woman (H.A.). The red blood cells of H.A., like those of other Inab phenotype individuals, were negative for Cromer system antigens, Cra, Tca, Dra, UMC, and IFC. The deficiency of DAF on the red blood cells of H.A. has been shown by immunoblotting with a murine monoclonal antibody to DAF. Molecular analysis has shown that H.A. is homozygous for a single nucleotide substitution, C1579→A, at the position 24 bp upstream of the 3′-end of exon 2 of the DAF gene. This substitution causes the activation of a novel cryptic splice site and results in the production of mRNA with a 26 bp deletion. The deletion introduces a reading frame shift and creates a stop codon immediately downstream of the deletion. Translation of mRNA would be terminated at the first amino acid residue of the second short consensus repeat (SCR2) domain (exon 3) of DAF. The functional domains of DAF's complement regulatory activity and the carboxy-terminal signal domains for glycosylphosphatidylinositol (GPI) anchoring are predicted to be lacking in H.A. Thus, there would be no DAF present on the cell surface.

scholarly journals Rearrangements of the blood group RhD gene associated with the DVI category phenotype

Blood ◽  
1994 ◽  
Vol 83 (4) ◽  
pp. 1129-1135 ◽  
Author(s):  
I Mouro ◽  
C Le Van Kim ◽  
C Rouillac ◽  
DJ van Rhenen ◽  
PY Le Pennec ◽  
...  
Keyword(s):  
Red Blood Cells ◽  
Blood Group ◽  
Blood Cells ◽  
Genomic Rearrangements ◽  
Blood Group Antigens ◽  
Reading Frame ◽  
Mrna Sequencing ◽  
Major Antigen ◽  
Rhesus Blood Group ◽  
Equivalent Region

Abstract The Rh (Rhesus) blood group antigens, D, Cc, and Ee, are carried by three unglycosylated membrane proteins of the human erythrocytes encoded by two highly related genes, D and CcEe. The major antigen, D, is a mosaic composed of at least nine determinants (epD1 through epD9). The lack of expression of some of these D epitopes at the surface of variant red blood cells defines the so-called D category phenotypes. In this report, we have determined the molecular basis of the DVI category phenotype characterized by the lack of epitopes D1, D2, D5, D6/7, and D8. Southern blot analysis and mRNA sequencing showed that the DVI phenotype is associated with two types of rearrangement of the D gene. Of 10 DVI genomes investigated, 8 exhibited a segmental DNA replacement (gene conversion) between the D fragment encompassing exons 4, 5, and 6 and the equivalent region of the CcEe gene. In the two other variants, these three exons are deleted. In both cases, the genomic rearrangement did not alter the reading frame of the variant RhD transcripts that are translated in 417 and 266 amino acid polypeptides, respectively. A heterogeneity of category DVI samples based on variable reactivity of the red blood cells with anti-D antibodies was previously found to be associated with the CDVIe or cDVIE haplotypes. Interestingly, our present results indicated that this serologic subdivision of the DVI category is correlated to two types of genomic rearrangements of the D gene.

scholarly journals Molecular basis of reduced or absent expression of decay-accelerating factor in Cromer blood group phenotypes

Blood ◽  
1994 ◽  
Vol 84 (4) ◽  
pp. 1276-1282 ◽  
Author(s):  
DM Lublin ◽  
G Mallinson ◽  
J Poole ◽  
ME Reid ◽  
ES Thompson ◽  
...  
Keyword(s):  
Blood Group ◽  
Molecular Basis ◽  
Single Amino Acid ◽  
Single Point Mutation ◽  
Blood Group System ◽  
Single Nucleotide ◽  
Decay Accelerating Factor ◽  
Exon 2 ◽  
Nucleotide Deletion ◽  
Single Amino Acid Change

Abstract The human erythrocyte blood group system Cromer consists of high- incidence and low-incidence antigens that reside on decay-accelerating factor (DAF; CD55), a glycosyl-phosphatidylinositol-anchored membrane protein that regulates complement activation on cell surfaces. In the Cromer phenotypes Dr(a-) and Inab there is reduced or absent expression of DAF, respectively. This study investigated the molecular basis of the reduced DAF expression by polymerase chain reaction amplification of genomic DNA and RNA/cDNA obtained from Epstein-Barr virus- transformed lymphoblastoid cell lines. Sequence analysis of the Inab propositus showed a single nucleotide substitution in exon 2 of the DAF gene and at the corresponding position in the cDNA, G314-->A resulting in Trp53-->Stop. This truncation near the amino terminus explains the complete absence of surface DAF in the Inab phenotype. A similar analysis was performed for two Dr(a-) individuals, including KZ, who was previously reported to be Inab phenotype but is now shown by immunochemical and serologic methods to be Dr(a-) phenotype. A single nucleotide change was found in exon 5 of the DAF gene, C649-->T resulting in Ser165-->Leu, which we had previously shown to lead to loss of the Dra epitope. However, two species of cDNA were found, one encoding full-length DAF with the single amino acid change and the more abundant species having a 44-nucleotide deletion. The 44 nucleotide deletion includes the single polymorphic site, which creates a cryptic branch point in the Dr(a-) allele that leads to use of a downstream cryptic acceptor splice site. This shifts the reading frame and leads to a premature stop codon that precludes membrane anchoring. Thus, the single point mutation in the Dr(a-) phenotype results in a novel use of alternative splicing and provides a molecular explanation for both the antigenicity and the reduced DAF expression seen in this phenotype.

Forssman expression on human erythrocytes: biochemical and genetic evidence of a new histo-blood group system

Blood ◽  
2013 ◽  
Vol 121 (8) ◽  
pp. 1459-1468 ◽  
Author(s):  
Lola Svensson ◽  
Annika K. Hult ◽  
Robert Stamps ◽  
Jonas Ångström ◽  
Susann Teneberg ◽  
...  
Keyword(s):  
Red Blood Cells ◽  
Blood Group ◽  
Blood Cells ◽  
Human Erythrocytes ◽  
Blood Group System ◽  
Group System ◽  
Glycolipid Antigen ◽  
Human Red Blood Cells ◽  
Key Points ◽  
Forssman Antigen

Key Points A new histo-blood group system was discovered, based on the identification of Forssman glycolipid antigen on human red blood cells. A newly described polymorphism in the GBGT1 gene activates the encoded enzyme to synthesize Forssman antigen.

scholarly journals Molecular basis of reduced or absent expression of decay-accelerating factor in Cromer blood group phenotypes

Blood ◽  
1994 ◽  
Vol 84 (4) ◽  
pp. 1276-1282 ◽  
Author(s):  
DM Lublin ◽  
G Mallinson ◽  
J Poole ◽  
ME Reid ◽  
ES Thompson ◽  
...  
Keyword(s):  
Blood Group ◽  
Molecular Basis ◽  
Single Amino Acid ◽  
Single Point Mutation ◽  
Blood Group System ◽  
Single Nucleotide ◽  
Decay Accelerating Factor ◽  
Exon 2 ◽  
Nucleotide Deletion ◽  
Single Amino Acid Change

The human erythrocyte blood group system Cromer consists of high- incidence and low-incidence antigens that reside on decay-accelerating factor (DAF; CD55), a glycosyl-phosphatidylinositol-anchored membrane protein that regulates complement activation on cell surfaces. In the Cromer phenotypes Dr(a-) and Inab there is reduced or absent expression of DAF, respectively. This study investigated the molecular basis of the reduced DAF expression by polymerase chain reaction amplification of genomic DNA and RNA/cDNA obtained from Epstein-Barr virus- transformed lymphoblastoid cell lines. Sequence analysis of the Inab propositus showed a single nucleotide substitution in exon 2 of the DAF gene and at the corresponding position in the cDNA, G314-->A resulting in Trp53-->Stop. This truncation near the amino terminus explains the complete absence of surface DAF in the Inab phenotype. A similar analysis was performed for two Dr(a-) individuals, including KZ, who was previously reported to be Inab phenotype but is now shown by immunochemical and serologic methods to be Dr(a-) phenotype. A single nucleotide change was found in exon 5 of the DAF gene, C649-->T resulting in Ser165-->Leu, which we had previously shown to lead to loss of the Dra epitope. However, two species of cDNA were found, one encoding full-length DAF with the single amino acid change and the more abundant species having a 44-nucleotide deletion. The 44 nucleotide deletion includes the single polymorphic site, which creates a cryptic branch point in the Dr(a-) allele that leads to use of a downstream cryptic acceptor splice site. This shifts the reading frame and leads to a premature stop codon that precludes membrane anchoring. Thus, the single point mutation in the Dr(a-) phenotype results in a novel use of alternative splicing and provides a molecular explanation for both the antigenicity and the reduced DAF expression seen in this phenotype.

scholarly journals Rearrangements of the blood group RhD gene associated with the DVI category phenotype

Blood ◽  
1994 ◽  
Vol 83 (4) ◽  
pp. 1129-1135 ◽  
Author(s):  
I Mouro ◽  
C Le Van Kim ◽  
C Rouillac ◽  
DJ van Rhenen ◽  
PY Le Pennec ◽  
...  
Keyword(s):  
Red Blood Cells ◽  
Blood Group ◽  
Blood Cells ◽  
Genomic Rearrangements ◽  
Blood Group Antigens ◽  
Reading Frame ◽  
Mrna Sequencing ◽  
Major Antigen ◽  
Rhesus Blood Group ◽  
Equivalent Region

The Rh (Rhesus) blood group antigens, D, Cc, and Ee, are carried by three unglycosylated membrane proteins of the human erythrocytes encoded by two highly related genes, D and CcEe. The major antigen, D, is a mosaic composed of at least nine determinants (epD1 through epD9). The lack of expression of some of these D epitopes at the surface of variant red blood cells defines the so-called D category phenotypes. In this report, we have determined the molecular basis of the DVI category phenotype characterized by the lack of epitopes D1, D2, D5, D6/7, and D8. Southern blot analysis and mRNA sequencing showed that the DVI phenotype is associated with two types of rearrangement of the D gene. Of 10 DVI genomes investigated, 8 exhibited a segmental DNA replacement (gene conversion) between the D fragment encompassing exons 4, 5, and 6 and the equivalent region of the CcEe gene. In the two other variants, these three exons are deleted. In both cases, the genomic rearrangement did not alter the reading frame of the variant RhD transcripts that are translated in 417 and 266 amino acid polypeptides, respectively. A heterogeneity of category DVI samples based on variable reactivity of the red blood cells with anti-D antibodies was previously found to be associated with the CDVIe or cDVIE haplotypes. Interestingly, our present results indicated that this serologic subdivision of the DVI category is correlated to two types of genomic rearrangements of the D gene.

scholarly journals Rare blood donors with irregular antibodies

2013 ◽  
Vol 66 (7-8) ◽  
pp. 331-334
Author(s):  
Mirjana Krga-Milanovic ◽  
Nevenka Bujandric ◽  
Natasa Milosavljevic-Knezevic
Keyword(s):  
Blood Transfusion ◽  
Red Blood Cells ◽  
Blood Group ◽  
Blood Donor ◽  
Blood Cells ◽  
High Frequency ◽  
Blood Donors ◽  
Blood Groups ◽  
Blood Group System ◽  
Group System

Introduction. Blood groups are inherited biological characteristics that do not change throughout life in healthy people. Blood groups represent antigens found on the surface of red blood cells. Kell blood group system consists of 31 antigens. Kell antigen (K) is present in 0.2% of the population (the rare blood group). Cellano antigen is present in more than 99% (the high-frequency antigen). These antigens have a distinct ability to cause an immune response in the people after blood transfusion or pregnancy who, otherwise, did not have them before. Case Report. This paper presents a blood donor with a rare blood group, who was found to have an irregular antibody against red blood cells by indirect antiglobulin test. Further testing determined the specificity of antibody to be anti-Cellano. The detected antibody was found in high titers (1024) with erythrocyte phenotype Kell-Cellano+. The blood donor was found to have a rare blood group KellKell. This donor was excluded from further blood donation. It is difficult to find compatible blood for a person who has developed an antibody to the high-frequency antigen. The donor?s family members were tested and Cellano antigen was detected in her husband and child. A potential blood donor was not found among the family members. There was only one blood donor in the Register of blood donors who was compatible in the ABO and Kell blood group system. Conclusion. For the successful management of blood transfusion it is necessary to establish a unified national register of donors of rare blood groups and cooperate with the International Blood Group Reference Laboratory in Bristol with the database that registers donors of rare blood groups from around the world.

scholarly journals OCCURRENCE OF 19S AND 7S ANTI-IGGS DURING HYPERIMMUNIZATION OF RABBITS WITH STREPTOCOCCI

1972 ◽  
Vol 136 (4) ◽  
pp. 799-815 ◽  
Author(s):  
Viktor A. Bokisch ◽  
David Bernstein ◽  
Richard M. Krause
Keyword(s):  
Red Blood Cells ◽  
Blood Group ◽  
Pneumococcal Vaccine ◽  
Blood Cells ◽  
Genetic Influence ◽  
Group A

All 110 rabbits immunized with Group A, A-variant, and C streptococcal vaccines produced 19S anti-IgG in addition to antibodies to the streptococcal carbohydrates. 19S anti-IgG was detected by hemagglutination of rabbit red blood cells coated with rabbit anti-blood group F antibody. Antisera of 88 of these animals were also tested for 7S anti-IgG with a coprecipitation assay. This assay is based on the coprecipitation of 7S anti-IgG with complexes of streptococcal carbohydrate and anti-carbohydrate antibody. 50 of the 88 anti-Group C streptococcal antisera contained 7S anti-IgGs. In eight antisera the concentration was greater than 5 mg/ml. The data suggest a genetic influence on the occurrence of 7S anti-IgG. The eight rabbits which produced more than 5 mg/ml of 7S anti-IgG belonged to three related families. Moreover, there were families in which almost every member produced 7S anti-IgG and other families in which only 30% of the members manufactured 7S anti-IgG. The streptococcal vaccine was an especially efficient stimulus for the production of 19S anti-IgG, whereas the pneumococcal vaccine was much less effective in this respect. Furthermore, 7S anti-IgGs were not detected in antipneumococcal antisera, although the concentration of anti-capsular antibodies was similar to that of anti-carbohydrate antibodies in antistreptococcal antisera.

HEMOLYTIC DISEASE OF THE NEWBORN DUE TO ANTI-A AND ANTI-B

PEDIATRICS ◽  
1955 ◽  
Vol 15 (1) ◽  
pp. 54-62
Author(s):  
Clare N. Shumway ◽  
Gerald Miller ◽  
Lawrence E. Young
Keyword(s):  
B Cells ◽  
Red Blood Cells ◽  
Blood Group ◽  
Newborn Infant ◽  
Blood Cells ◽  
Osmotic Fragility ◽  
Red Cells ◽  
Hemolytic Disease ◽  
Abo Incompatibility

Ten infants with hemolytic disease of the newborn due to ABO incompatibility were studied. In every case the investigations were undertaken because of jaundice occurring in the first 24 hours of life. The clinical, hematologic and serologic observations in the infants and the serologic findings in the maternal sera are described. Evidence is presented to show that the diagnosis of the disorder rests largely upon the demonstration of spherocytosis, increased osmotic fragility of the red cells, reticulocytosis, and hyperbilirubinemia in a newborn infant whose red blood cells are incompatible with the maternal major blood group isoantibody and against whose cells no other maternal isoantibody is demonstrable. The anti-A or anti-B in each of the maternal sera tested in this series hemolyzed A or B cells in the presence of complement. Other serologic findings in the maternal sera were less consistently demonstrated.

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