01 Genetics in BB

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1
Human Blood Group
______________ antigens (ags) are found on the surfaces of RBCs &
Plts and are associated with genetic make up
2
36, 379
There are ___ Human Blood Groups that result in over _____ different ags,
i.e., 346 RBC ags and 33 platelet ags*.
3
27
approx. ____ ags are what we deal with on a daily basis.
4
patient can develop an Ab to that
RBC ag
If a patient lacks a RBC ag and is transfused with blood containing
the patient's lacking RBC ag, the __________
5
hemolysis, extravascular sequestration
These RBC Abs can cause subsequent transfusion reactions by
attacking the transfused cells and destroying them, either through
__________ or ___________
6
Dominance
1. Certain genes expressed themselves as dominant
2. Dominant was designated by a capital letter (R = red color); flowers were all seen as Red color.
3. However, there was a white flower that he saw which was designated as a lower case letter (r = white) where the white color was expressed when the recessive genes were only expressed in the homozygous state
7
Segregation
When the two different traits come together in one hybrid pair, the two characters do not mix with each other and are independent of each other.
8
Independent Assortment
Genes for different traits are inherited separately from each other and
allows for all possible combinations of genes to occur in the offspring.
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Autosomal Dominant
gene indicated by using a capital letter
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Autosomal Recessive
gene indicated by using a small letter
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dominant gene
The ___________ is expressed over the recessive gene, e.g.,
B = brown eyes; b = blue eyes; Bb = brown eyes are seen
12
Homozygous
the presence of the same two genes
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Heterozygous
the presence of two different genes
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Sex-linked
(Dominant or Recessive) - linked to x gene
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Autosomal Codominant
2 genes are equally expressed when
both are present, e.g., A gene & B gene present, AB is expressed.
16
HARDY-WEINBERG LAW
One of the most useful tools in the study of population genetics. It
permits the estimation of gene frequencies from phenotype
frequencies observed in a population.

States (in algebraic form) that the genotype frequencies in a
population, remain constant or in equilibrium from generation to
generation, unless specific influences are introduced.

p^2 + 2pq + q^2 = 1
p = gene frequency of the dominant allele
q = gene frequency of the recessive allele
17
CRITERIA FOR THE USE OF THE
HARDY-WEINBERG FORMULA
❑ Population studied must be large.
❑ Mating among all individuals must be random.
❑ Mutations must not occur in parents or offspring.
❑ There must be no migration, differential fertility, or mortality of genotypes studied.
18
Genotype
➢ Is an attribute that you can NOT "see"
➢ Old thinking - Individual genetic makeup cannot be absolutely determined without
family studies, but can be "inferred" from the phenotype, based on gene frequencies
in a population
19
Genotype
New evolution today - the detection of the molecular make-up of the blood group ags; analysis / probe for a single nucleotide polymorphism (SNPs)
20
Phenotype
➢ A physical attribute that you can "see" i.e., hemagglutination
21
3 ABO typing sera available: anti-A, anti-B, anti-A,B
5 Rh typing sera available: anti-D, anti-C, anti-c, anti-E, anti-e
➢ Test results using specific antisera with red blood cells
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