Any of several immunologically distinct, genetically determined classes of human blood which are based on the presence or absence

of certain erythrocyte surface antigens (glycoproteins) and are clinically identified by characteristic agglutination reactions; for blood transfusion purposes, the ABO, MN, and Rh blood group systems are the most important.

Glycoproteins have carbohydrate attached to them a process called glycosylation. The attachment is a covalent linkage to: the hydroxyl (-OH) group of the R group of serine or threonine - called "O-linked" in both cases or to the amino group (-NH2) in the R group of asparagine called "N-linked". The carbohydrate consists of short, usually branched, chains of: plain sugars (e.g., glucose, galactose); amino sugars (sugars with an amino group, e.g., Nacetylglucosamine), and acidic sugars (sugars with a carboxyl group, e.g., sialic acid) Sugars are very hydrophilic thanks to their many -OH groups. Their presence makes glycoproteins far more hydrophilic than they would be otherwise and are often essential for the proper folding of the protein into its tertiary structure. Most of the proteins exposed to the watery surroundings at the surface of cells are glycoproteins.

Glycophorin A is a glycoprotein that spans the plasma membrane ("Lipid bilayer") of human red blood cells. Each RBC has some 500,000 copies of the molecule embedded in its plasma membrane. Fifteen carbohydrate chains are "O-linked" to serine (Ser) and threonine (Thr) residues. One carbohydrate chain is "N-linked" to the asparagine (Asn) at position 26. Two polymorphic versions of glycophorin A, which differ only at residues 1 and 5, occur in humans.

the primary structure of glycophorin A

A classification system for human blood which identifies four major blood types/groups based on the presence or absence of two antigens (agglutinogens), A and B substances (glycoproteins), determined by specific genetic alleles, on red blood cell membranes; the four blood types/groups (A, B, AB, and O, in which O designates blood that lacks both antigens) are important in determining the compatibility of blood for transfusion.

 Landsteiners discovered the ABO Blood Group

System in 1901

He and five co-workers began mixing each others red

blood cells and serum together and accidentally performed the first forward and reverse ABO groupings

Landsteiners Rule:

If an antigen (Ag) is present on a patients red blood cells the corresponding antibody (Ab) will NOT be present in the patients plasma, under normal conditions

Chromosome 9 A and B genes encode acetyl transferase enzymes which add oligosaccharides to precursor glycoproteins the cell membrane on membrane O gene - no enzyme

The human ABO gene encodes Nacetylgalactosaminyltransferase. This is the enzyme that determines the ABO blood types. This gene is found in all mammals. The gene will have a very different name in other species.
The ABO gene is located at 9q34.1-q34.2 on chromosome 9.

The ABO gene has seven exons, some of them are quite short. There are six introns and one of them is large so the total length of the gene is over twice as long as the length of the coding region.

The ABO blood type system is a classification system for human blood which identifies four major blood types/groups based on the presence or absence of two antigens (agglutinogens), A and B substances (glycoproteins), on red blood cell membranes; the four blood types/groups (A, B, AB, and O, in which O designates blood that lacks both antigens) are important in determining the compatibility of blood for transfusion. The presence of A and B substances on red blood cells is determined by the presence of specific alleles inherited from one's parents. Since the alleles show co-dominance, a person who receives neither the A or the B allele will be Type O; a person who receives only the A allele will be Type A; a person who receives only the B allele will be Type B; and a person who receives a copy of both the A and the B allele will be Type AB.

agglutinogen - An erythrocyte (RBC) surface antigen (immunologically distinct, genetically determined glycoproteins) which may stimulate the production of a particular specific agglutinin (antibody) in individuals lacking that particular agglutinogen (antigen); e.g., the antigens involved in the ABO and Rh blood group systems. agglutinin - A molecule, such as an antibody, which is capable of causing agglutination (clumping) of a particular antigen, especially red blood cells or bacteria. agglutination - The clumping together of red blood cells, or bacteria, or other particulate/cellular antigens, usually in response to a specific antibody.

The four different blood types occurring in the ABO blood group system and the naturally occurring antibodies (agglutinins) associated with each of the four blood types.

ABO Blood Type

Naturally Occurring Antibodies (Agglutinins) Anti-A and Anti-B Anti-B Anti-A none

O A B AB

The human ABO gene on chromosome 9 has three common variants of the gene. Different variants are called alleles. The A allele encodes N-acetylaminogalactosyltransferase and this enzyme makes the A antigen that confers blood type A. The B allele encodes a variant enzyme that makes B antigen and gives rise to blood type B. The O allele encodes a defective enzyme that doesn't make either antigen. In the absence of both A antigen and B antigen your blood type will be O.

Everyone has two copies of chromosome 9 so we have two ABO genes.

If both of them are the A alleles then the genotype (genetic makeup) will be AA. Blood type will be A.
If one of our ABO genes is the A allele and the other is the O allele then the genotype will be AO. In this case our blood type will be A

The manifestation of the genes is called the phenotype. The phenotype is related to the genotype but we can't always predict the genotype from the phenotype.
If someone has blood type A then their genotype might be AA or AO. Imagine that they mate with someone having blood type O (that person must have genotype OO)!

The results for the AA parent are shown on the left. All four of the possible combinations are shown in the matrix. There is only one genotype that will show up in the children (AO). All of the children will have blood type A, shown as purple boxes. If the blood type A parent has the AO genotype then the Punnett square calculations look like the diagram on the right. In this case, there are two possible combinations; AO and OO. Half the children will have blood type A and half will have blood type O. Since the O phenotype is masked by the presence of the A phenotype, we say that O is recessive to A and A is dominant with respect to O. The only way to see the O phenotype is when the genotype is OO. We refer to this as the homozygous recessive state. AO individuals are heterozygous because they have two different alleles.

Now let's look at combinations with the B allele. If we only express the B allele then you will only have B antigen on the surface of your cells and you will be blood type B. If we are heterozygous for the A and B alleles then we express both A antigen and B antigen and our blood type is AB. Note that the A phenotype is not recessive to the B phenotype or vice versa. The A and B alleles are co-dominant. This result is very common even thought we don't hear about it as often as dominant and recessive alleles.

A mating between an AB father and an OO mother will produce children who are either blood type A or blood type B as shown in the Punnett square on the left. None of the children will be blood type O.

A mating between two AB individuals will result in 50% of the children with AB blood type like their parents, 25% with blood type A, and 25% with blood type B. The percentages are derived from the matrix. Every combination of sperm and egg is random with respect to the genotype so the matrix represents the probabilities and not the definitive outcome whenever we have four children. It's quite possible for two AB parents to have four children with blood type A although the probability of this happening is low (0.254=0.4%).

MN blood groups The M allele encodes Ser at position 1 (Ser-1) and Gly at position 5 (Gly-5) The N allele encodes Leu-1 and Glu-5 Genotype to Phenotype Individuals who inherit two N alleles (are homozygous) have blood group N. Individuals who are homozygous for the M allele have blood group M. Heterozygous individuals produce both proteins and have blood group MN. Glycophorin A is the most important attachment site by which the parasite Plasmodium falciparum invades human red blood cells.

A classification system for human blood which identifies two major blood types/groups based on the presence or absence of one antigen (agglutinogen),
Rh substance = D antigen (glycoprotein), determined by specific genetic alleles, on red blood cell membranes. The two blood types/groups (Rh positive and Rh negative, in which Rh- designates blood that lacks the D antigen) are important in determining the compatibility of blood for transfusion; the RH designation refers to the fact that the same antigen is present in Rhesus monkeys.

autologous transfusions - A transfer of whole blood or blood products in which the blood, blood component, or bone marrow is derived from and then transferred to the same individual's body (donor = recipient). hemolysis - The destruction or dissolution of red blood cells by destruction of the outer cell membrane, with subsequent release of hemoglobin; it may be caused by bacterial hemolysins, antibodies, the complement proteins of the blood, by hypotonic solutions, by defects in the red blood cell membrane, or by certain chemicals. hemolytic disease of the newborn = erythroblastosis fetalis - A severe hemolytic disease of a fetus or newborn infant caused by the production of maternal antibodies (usually anti-D) against the fetal red blood cells, usually involving Rh incompatibility between the mother (who must be Rh- and the fetus who must be Rh+).

In the following pedigree, those with known blood types have it listed inside their symbol. Bob, who is III.1, has had an accident and is trapped in a cave. His two young boys (IV.1 and IV.2) have reported his accident, which they knew about through a series of smoke signals they had agreed upon in advance. It is very likely that Bob will need a blood transfusion, but there is no way to get to him in time to test his blood. Bobs wife Sarah (III.2) at that moment was away on a research mission in the jungles of Borneo (researching orangutans), and therefore unable to tell anyone her blood type.
O A

1. is it possible to tell anything about Bobs blood type? Show punnet squares to indicate his possibilities. 2. is it possible to prepare a blood transfusion to take on the rescue mission that wont kill him? 3. a few days later, a transmission came from Sarah from the jungle. She had just given birth to a new baby daughter, and can guarantee that it is indeed Bobs child as well. This new baby girl has blood type O. Does this tell you anything you didnt already know? and will it make any difference in what blood is taken to Bob (who is still languishing in the cave, beyond the reach of rescuers)

A man, Yurgev, is married to Natalia. Both have type AB blood. What are the possible blood types of their children? what are the PROBABILITIES of each type? are there any blood types that could NEVER come from them?

Mary has type A blood, and she has a child, Maggie. Maggie has type O blood. There is some disagreement who is the father of Maggie. John has type AB blood, and claims that he is the father of Maggie. Jerry has type O blood, and he also claims to be the father of Maggie, especially since both he and Maggie have the same blood type. Is it possible to tell for sure who is the father? If so, draw up a punnet square to show the genotypes of everyone involved.

Thank You