PSC1002/L04 Blood Groups Flashcards
Describe the work of Karl Landsteiner (1901). (3)
The ABO blood group system
Identified 3 blood types A, B, C
AB discovered 1 year later
Define a blood group.
Classification of blood based on presence (or absence) of inherited antigenic substances on surface of RBCs
Describe antigens of RBCs. (2)
Complex mixture of proteins, glycoproteins and glycolipids
Found on surface of all RBCs and range of other cells in body
How many human blood groups systems/antigens are known?
43
>600 blood group antigens
What is the +/- of a blood group?
Presence or absence of Rhesus D antigen
What 5 sugars make up RBC antigens?
Fucose
Galactose
N-acetylgalactosamine
N-acetylglucosamine
Sialic acid
Which enzymes are involved in blood groups? (3)
Fucosyl transferase (FUT1)
N-acetylgalactosamine transferase (A transferase)
Galactose transferase (B transferase)
Which 2 genes are involved in blood group?
ABO
H
What kind of enzyme do ABO and H genes encode?
Glycotransferases
Name the alleles found at the ABO and H loci.
A, B, O
H or h
What protein does the O (recessive) allele encode?
Truncated, non-functional protein
What enzyme does the dominant H allele encode?
Fucosyl transferase
Where is the H gene located?
Chromosome 19
What is the ‘Bombay’ phenotype?
hh genotype
No symptoms or related disease
Can only receive transfusions from the same blood group
Where is the ABO gene located? How many exons does it have?
Chromosome 9
7 exons