CHAPTER 2 BASIC GENETICS

Many areas of transfusion medicine rely on: an understanding of blood group genetics and accurate and
sensitive methods of pathogen testing to keep the blood supply
safe
Most of the antigens in the various blood group systems codominant
generally follow straightforward inheritance patterns, usually of
a _____________ nature.
Phenotype observed expression
Genotype genetic make up
Homozygous When both inherited alleles are identical (KK, kk)
Sometimes produces a stronger expression of the gene than Homozygous
would in a heterozygous individual (dosage)
Hemizygous when one chromosome has a copy of the gene and the other
chromosome has that gene deleted or absent
Heterozygous when inherited genes are different
Dominant expressed in the homozygous or heterozygous states
Recessive only expressed in the homozygous state
Co-dominance genes expressed have no dominance
Amorph no detectable gene product (antigen), silent gene
Alleles different forms of same gene- A, B and O are allelic
The major areas of population genetics of concern to blood Pioneering work of Linnaeus and Darwin
banking include: Mendel's Laws of Inheritance
Hardy-Weinberg Principle
Inheritance patterns
Genetics information plays a vital role in: determining blood groups expressed
Blood groups are inherited following: Mendelian postulates
Recall the works of Darwin and Mendel— the basic unit of life
Cell as ________________________ material of inheritance (genes)
Nucleus _______________________ fruit flies, sweet pea plants etc.
Worked with ____________________
Shows that alleles of genes have no permanent effect on one
another when present in the same plant but segregate unchanged
by passing into different gametes
Unlike the flower color of many types of plants, most blood
group genes are inherited in a _____________ manner.
Codominant
In the case of alleles at the phenotypic level:
First Mendelian law
Second Mendelian law
Law of independent assortment
According to Mendel's 2nd law, if genes segregate
independently;
According to. Mendel's 2nd law, if genes are not inherited
independently;
Mendel's laws apply to:
Mendel's Laws of Inheritance (Exceptions)
If the genes for separate traits are closely linked on a
chromosome:
If the genes for separate traits are closely linked on a
chromosome, they can be inherited together as a single unit.
When linkage occurs:
Phenotypic frequencies are determined by:
After randomly testing red blood cells from a large population:
In a randomly mating, large population. Unless subjected to
some pressure, they reach equilibrium.
The sum of the frequencies at a give locus on a chromosome
must equal:
Mendel's first law
codominant
both alleles are expressed at the phenotypic level
each controls the formation of a different red blood cell antigen
Traits segregate independently
Randomness of gene distribution in individuals
Genes for different traits are inherited separately from each
other.
This allows for all possible combinations of genes to occur in the
offspring.
Second Mendelian law
the observed frequencies would be the product of the frequencies
of each allele
They will not be in equilibrium
all sexually reproducing diploid organisms
they can be inherited together as a single unit (linkage).
Linkage
the expected ratios of progeny in F1 matings may not be seen
randomly testing red blood cells from a large population
A percentage of those positive or negative for a trait is then
calculated
gene frequencies tend to remain constant
1
Equilibrium can be achieved by using: Hardy-Weinberg formula
The Hardy- Weinberg formula allows the study of ___________ Mendelian inheritance
__________ in great detail. laws of inheritance
It enhances the understanding of:
States that the 'relative proportion of genotypes in a locus Hardy-Weinberg formula
remains constant or in equilibrium in a population as long as
mating is random'
The Hardy-Weinberg formula states: p+q=1 (p²+2pq+q²=1)
This principle specifically addresses questions about recessive Hardy-Weinberg formula
traits and how they can be persistent in populations.
Gene frequency of dominant allele P
gene frequency of recessive allele q
The equation is based on the assumptions that: Large
Population studied must be ________ Random
Mating must be __________ Mutation
No __________ in parents or offspring Immigration, mortality, fertility
No _____________, no __________ of the genotypes in study,
and no differential __________
Problems with the Hardy- Weinberg criteria: Collecting sample data from a significantly large enough
segment of a population is not always feasible

Mating is not always random.

Mixing of populations on a global scale leads to "gene flow" on

a constant basis.
___________ ____________ requires the understanding of Pedigree analysis
various standard conventions in the representation of data
figures.
Males are represented by ________; females by ________. squares
circles
A line joining a male and female indicates: a mating between the two
Offspring are indicated by: a vertical line
A double line between a male and female indicates: a consanguineous mating
A stillbirth or abortion is indicated by: a small black circle
Deceased family members: have a line crossed through them
The ________ (the most interesting or important member of the propositus
pedigree) is indicated by an arrow pointing to it.
The reason the pedigree analysis is undertaken is usually There is something unusual about the propositus
because:
Rh inheritance pattern seen in parents with Rh type Dd. They Autosomal recessive
will have an offspring with dd genotype (Rh negative)
Suppressor gene In (Lu) seen in all family members carrying the Autosomal dominant
allele.
Hemophilia A, which affected royal families in Europe X-linked recessive
The father passes this trait to his daughters who become carriers X-linked recessive
These daughters then pass the trait to half of their sons