Genes in Population

GENE S IN P OP U L AT ION
TOPICS
a. POPULATION GENETICS
b. GENE FREQUENCIES AND EQUILIBRIUM
1 GENE FREQUENCIES
2. GENE POOL
3. MODEL SYSTEM FOR POPULATION STABILITY (HARDY-WEINBERG LAW)
POPULATION GENETICS
üPOPULATION GENETICS IS THE STUDY OF THE GENETIC COMPOSITION OF

POPULATIONS, INCLUDING DISTRIBUTIONS AND CHANGES IN GENOTYPE
AND PHENOTYPE FREQUENCY IN RESPONSE TO THE PROCESSES OF
NATURAL SELECTION, GENETIC DRIFT, MUTATION AND GENE FLOW.
A GENE FOR A PARTICULAR CHARACTERISTIC MAY HAVE SEVERAL
VARIATIONS CALLED ALLELES. THESE VARIATIONS CODE FOR DIFFERENT
TRAITS ASSOCIATED WITH THAT CHARACTERISTIC. FOR EXAMPLE, IN THE
ABO BLOOD TYPE SYSTEM IN HUMANS, THREE ALLELES (IA, IB, OR I)
DETERMINE THE PARTICULAR BLOOD-TYPE PROTEIN ON THE SURFACE OF RED
BLOOD CELLS. A HUMAN WITH A TYPE IA ALLELE WILL DISPLAY A-TYPE
PROTEINS (ANTIGENS) ON THE SURFACE OF THEIR RED BLOOD CELLS.
INDIVIDUALS WITH THE PHENOTYPE OF TYPE A BLOOD HAVE THE GENOTYPE
IAIA OR IAI, TYPE B HAVE IBIB OR IBI, TYPE AB HAVE IAIB, AND TYPE O HAVE II.
Population genetics is the study of how selective forces change a
population through changes in allele and genotypic frequencies.
GENE FREQUENCY AND EQUILIBRIUM
KEY POINTS
üA GENE POOL IS THE SUM OF ALL THE ALLELES (VARIANTS OF A
GENE) IN A POPULATION.
üALLELE FREQUENCIES RANGE FROM 0 (PRESENT IN NO
INDIVIDUALS) TO 1 (PRESENT IN ALL INDIVIDUALS); ALL ALLELE
FREQUENCIES FOR A GIVEN GENE ADD UP TO 100 PERCENT IN A
POPULATION.
üTHE SMALLER A POPULATION, THE MORE SUSCEPTIBLE IT IS TO
MECHANISMS LIKE NATURAL SELECTION AND GENETIC DRIFT, AS THE
EFFECTS OF SUCH MECHANISMS ARE MAGNIFIED WHEN THE GENE POOL IS
SMALL.
üTHE FOUNDER EFFECT OCCURS WHEN PART OF AN ORIGINAL POPULATION
ESTABLISHES A NEW POPULATION WITH A SEPARATE GENE POOL, LEADING
TO LESS GENETIC VARIATION IN THE NEW POPULATION.
ALLELE FREQUENCY
GENE FREQUENCY CAN BE DEFINED AS THE FRACTION OR PERCENTAGE OF A

POPULATION THAT CARRIES ALLELE (I.E., ONE TYPE OF A GENE VARIANT) AT A
PARTICULAR LOCUS (GILLESPIE 2004). IT IS ALSO MORE APPROPRIATELY
KNOWN AS ALLELE FREQUENCY.
ALLELE FREQUENCY
THE ALLELE FREQUENCY (OR GENE FREQUENCY) IS THE RATE AT WHICH A

SPECIFIC ALLELE APPEARS WITHIN A POPULATION. IN POPULATION GENETICS,
THE TERM EVOLUTION IS DEFINED AS A CHANGE IN THE FREQUENCY OF AN
ALLELE IN A POPULATION. FREQUENCIES RANGE FROM 0, PRESENT IN NO
INDIVIDUALS, TO 1, PRESENT IN ALL INDIVIDUALS. THE GENE POOL IS THE
SUM OF ALL THE ALLELES AT ALL GENES IN A POPULATION.
WHY ALLELE FREQUENCIES CHANGE
FIVE EVOLUTIONARY FORCES CAN SIGNIFICANTLY ALTER THE ALLELE
FREQUENCIES OF A POPULATION
• MUTATION
• MIGRATION
• GENETIC DRIFT
• NON RANDOM MATING
• SELECTION
MUTATION
• ERRORS IN DNA REPLICATION
• THE ULTIMATE SOURCE OF NEW VARIATION
MIGRATION
• MOVEMENT OF INDIVIDUALS FROM ONE
POPULATION TO ANOTHER
-IMMIGRATION: MOVEMENT INTO A
POPULATION
-EMIGRATION: MOVEMENT OUT OF A
POPULATION
GENETIC DRIFT
• RANDOM LOSS OF ALLELES
-MORE LIKELY TO OCCUR IN SMALLER
POPULATION
• FOUNDER EFFECT – SMALL GROUP OF
INDIVIDUALS ESTABLISHES A POPULATION IN
A NEW LOCATION
• BOTTLENECK EFFECT – A SUDDEN DECREASE
IN POPULATION SIZE TO NATURAL FORCES
NON RANDOM MATING
• MATING THAT OCCURS MORE OR LESS FREQUENTLY THAN EXPECTED BY
CHANCE
• INBREEDING – MATING WITH RELATIVES
– INCREASES HOMOZYGOSITY
• OUT BREEDING – MATING WITH NON-RELATIVES
– INCREASES HETEROZYGOSITY
SELECTION
• SOME INDIVIDUALS LEAVE BEHIND MORE
OFFSPRING THAN OTHERS
ARTIFICIAL SELECTION – BREEDER SELECTS
FOR DESIRED CHARACTERISTICS
NATURAL SELECTION – ENVIRONMENT
SELECTS FOR ADAPTED CHARACTERISTICS
GENE FREQUENCY
THE GENE IS THE UNIT OF HEREDITY WHICH IS TRANSFERRED FROM PARENT TO THE
OFFSPRING GENERATION. THE INFORMATION WHICH GOVERNS THE CHARACTERISTICS OF
THE OFFSPRING IS STORED IN THESE GENES. EVERY GENE EXISTS IN ALTERNATIVE PAIRS,
AND AN ALLELE IS ONE ALTERNATIVE FORM OF THE GENE. GENE FREQUENCY, WHICH MORE
OR LESS REFERS TO THE ALLELE FREQUENCY, IS THE MEASUREMENT WHERE THE NUMBER
OF REPEATS OF THE SAME ALLELE IS MEASURED OVER A CERTAIN PERIOD OF TIME. THUS,
GENE FREQUENCY (ALLELE FREQUENCY) REFERS TO HOW FREQUENTLY AN ALLELE OF A GENE
APPEARS IN A POPULATION.
GENE FREQUENCY
THE GENE FREQUENCY CAN BE MEASURED IN A MICROPOPULATION BY USING
A SIMPLE FORMULA AS FOLLOWS, AND THE VALUE IS USUALLY GIVEN AS A
PERCENTAGE.
GENE POOL
A GENE POOL REFERS TO THE COMBINATION OF ALL THE GENES (INCLUDING
ALLELES) PRESENT IN A REPRODUCING POPULATION OR SPECIES. A LARGE
GENE POOL HAS EXTENSIVE GENOMIC DIVERSITY AND IS BETTER ABLE TO
WITHSTAND ENVIRONMENTAL CHALLENGES. INBREEDING CONTRIBUTES TO
A SMALLER GENE POOL, MAKING POPULATIONS OR SPECIES LESS ABLE TO
ADAPT AND SURVIVE WHEN FACED WITH ENVIRONMENTAL CHALLENGES.
THE GENE POOL CONSISTS OF ALL THE GENES OF ALL THE MEMBERS
OF THE POPULATION. FOR EACH GENE, THE GENE POOL INCLUDES ALL
THE DIFFERENT ALLELES FOR THE GENE THAT EXIST IN THE
POPULATION. FOR A GIVEN GENE, THE POPULATION IS
CHARACTERIZED BY THE FREQUENCY OF THE DIFFERENT ALLELES IN
THE GENE POOL.
A GENE POOL IS A COLLECTION OF DIFFERENT GENES, BOTH EXPRESSED AND
NOT EXPRESSED, PRESENT IN A POPULATION OF A PARTICULAR SPECIES.
THIS CAN BE ANY POPULATION IN CONSIDERATION FOR EXAMPLE FROGS IN A
POND, TREES IN A FOREST, ETC. THE HUMAN POPULATION AS A WHOLE IS
ALSO A GENE POOL AND IT IS APPROXIMATED THAT THERE IS DIVERSITY IN
EVERY ALLELE OF THE APPROXIMATELY 20,000 GENES FOUND IN THE HUMAN
GENOME.
CHANGES OF A GENE POOL
A GENE POOL IS PRONE TO CHANGES. THE FACTORS THAT MAY LEAD TO A CHANGE OF A GENE POOL INCLUDE;
ü MUTATION — THIS REFERS TO A PERMANENT CHANGE OF GENES LEADING TO VARIATION WITHIN A
POPULATION. MUTATION CAN EITHER BE RANDOM OR CAUSED BY PHYSICAL OR CHEMICAL FACTORS.
THESE FACTORS ARE KNOWN AS MUTAGENS. A MUTATION CHANGES THE DNA, THUS MODIFYING
CERTAIN GENES THAT ARE INHERITABLE. THIS LEADS TO A GENERATION WITH A NEW SET OF GENES.
MUTATION IS AN ESSENTIAL ELEMENT OF EVOLUTION.
ü NATURAL SELECTION — NATURAL SELECTION ALLOWS ORGANISMS WITH THE FIT TRAITS TO SURVIVE
AND ADAPT UNDER ENVIRONMENTAL PRESSURE. NATURAL SELECTION IS QUITE CRUCIAL IN THE
EVOLUTION. ORGANISMS THAT ARE ABLE TO COMPETE FOR THE LIMITED RESOURCES SURVIVE WHILE
THE REST DIE. ORGANISMS THAT SURVIVE REPRODUCE AND PASS THEIR HEREDITARY INFORMATION TO
THE NEXT GENERATION. THEIR TRAITS BECOME WIDELY DISTRIBUTED WITHIN A POPULATION, THUS
CONTRIBUTING TO A GENE POOL CHANGE.
üHYBRIDIZATION — THIS INVOLVES THE INTRODUCTION OF GENES IN A POPULATION FROM AN
OUTSIDE SOURCE (GENETICALLY DISTINCT POPULATIONS). THIS IS ACHIEVED THROUGH THE
INTERBREEDING OF ORGANISMS. THIS CHANGES THE ALREADY EXISTING GENES WITHIN A
POPULATION, THUS ALTERING THE GENE POOL.
üRECOMBINATION — RECOMBINATION MAINLY OCCURS DURING MEIOSIS, AND IT INVOLVES
THE FORMATION OF NEW GENOTYPES FROM THE ALREADY EXISTING GENES. IT MAY RESULT
FROM CROSSING OVER OR ASSORTMENT/SEPARATION OF CHROMOSOMES DURING MEIOSIS.
CROSSING OVER INVOLVES EXCHANGING GENETIC MATERIAL BETWEEN TWO NON-SISTER
CHROMATIDS (STRANDS OF A REPLICATED CHROMOSOME), THUS PRODUCING A NEW GENE
COMBINATION. THIS EVENTUALLY LEADS TO A CHANGE IN THE GENE POOL.
üMIGRATION — MIGRATION OF NEW INDIVIDUALS TO A POPULATION AND
VICE VERSA MAY LEAD TO AN INTRODUCTION OF NEW GENES. THIS
EVENTUALLY LEADS TO A CHANGE OF AN ALREADY EXISTING GENE POOL.
THE TRANSFER OF GENES FROM ONE POPULATION TO THE OTHER IS
KNOWN AS THE GENE FLOW.
• ALLELE FREQUENCIES IN A GENE POOL DETERMINE THE GENETIC
CHANGE FOR A POPULATION
• COMPOSITION OF A GENE POOL MAY CHANGE OVER TIME DUE TO
CERTAIN FACTORS
• IF NO CHANGE IN ALLELE FREQUENCIES FROM ONE GENERATION
TO THE NEXT, THE GENE POOL IS CONSIDERED STATIC- GENETIC
EQUILIBRIUM
HARDY-WEINBERG LAW
GODFREY HAROLD HARDY WILHELM WEINBERG
HARDY-WEINBERG LAW
THE LAW STATES THAT: “IN A INFINITELY, RANDOM MATING POPULATION, THE
FREQUENCY OF GENES AND GENOTYPES REMAINS CONSTANT GENERATION
AFTER GENERATION, IF THERE IS NO SELECTION, MUTATION, MIGRATION AND
RANDOM GENETIC DRIFT.’’
HARDY-WEINBERG EQUILIBRIUM
THE HARDY-WEINBERG EQUILIBRIUM IS A PRINCIPLE STATING
THAT THE GENETIC VARIATION IN A POPULATION WILL REMAIN
CONSTANT FROM ONE GENERATION TO THE NEXT IN THE ABSENCE
OF DISTURBING FACTORS. WHEN MATING IS RANDOM IN A LARGE
POPULATION WITH NO DISRUPTIVE CIRCUMSTANCES, THE LAW
PREDICTS THAT BOTH GENOTYPE AND ALLELE FREQUENCIES WILL
REMAIN CONSTANT BECAUSE THEY ARE IN EQUILIBRIUM.
PRINCIPLE
THE HARDY-WEINBERG PRINCIPLE STATES THAT A POPULATION’S ALLELE AND GENOTYPE
FREQUENCIES WILL REMAIN CONSTANT IN THE ABSENCE OF EVOLUTIONARY
MECHANISMS. ULTIMATELY, THE HARDY-WEINBERG PRINCIPLE MODELS A POPULATION
WITHOUT EVOLUTION UNDER THE FOLLOWING CONDITIONS:
üA LARGE BREEDING POPULATION
üRANDOM MATING
üNO MUTATIONS
üNO IMMIGRATION/EMIGRATION
üNO NATURAL SELCTION
A LARGE BREEDING POPULATION
• A LARGE BREEDING POPULATION HELPS TO ENSURE THAT CHANCE ALONE DOES NOT DISRUPT GENETIC
EQUILIBRIUM. IN A SMALL POPULATION, ONLY A FEW COPIES OF A CERTAIN ALLELE MAY EXIST. IF FOR
SOME CHANCE REASON THE ORGANISMS WITH THAT ALLELE DO NOT REPRODUCE SUCCESSFULLY, THE
ALLELIC FREQUENCY WILL CHANGE. THIS RANDOM, NON SELECTIVE CHANGE IS WHAT HAPPENS IN
GENETIC DRIFT OR A BOTTLENECK EVENT.
LARGE BREEDING POPULATION
RANDOM MATING
• IN A POPULATION AT EQUILIBRIUM, MATING MUST BE RANDOM. IN ASSORTATIVE MATING, INDIVIDUALS
TEND TO CHOOSE MATES SIMILAR TO THEMSELVES; FOR EXAMPLE, LARGE BLISTER BEETLES TEND TO
CHOOSE MATES OF LARGE SIZE AND SMALL BLISTER BEETLES TEND TO CHOOSE SMALL MATES. THOUGH
THIS DOES NOT ALTER ALLELIC FREQUENCIES, IT RESULTS IN FEWER HETEROZYGOUS INDIVIDUALS THAN
YOU WOULD EXPECT IN A POPULATION WHERE MATING IS RANDOM.
RANDOM MATING
NO CHANGE IN ALLELIC FREQUENCY DUE TO
MUTATION
FOR A POPULATION TO BE AT HARDY-WEINBERG EQUILIBRIUM, THERE CAN BE NO CHANGE IN ALLELIC
FREQUENCY DUE TO MUTATION. ANY MUTATION IN A PARTICULAR GENE WOULD CHANGE THE BALANCE OF
ALLELES IN THE GENE POOL. MUTATIONS MAY REMAIN HIDDEN IN LARGE POPULATIONS FOR A NUMBER OF
GENERATIONS, BUT MAY SHOW MORE QUICKLY IN A SMALL POPULATION.
NO MUTATIONS
NO IMMIGRATION OR EMIGRATION
• FOR THE ALLELIC FREQUENCY TO REMAIN CONSTANT IN A POPULATION AT EQUILIBRIUM, NO NEW ALLELES
CAN COME INTO THE POPULATION, AND NO ALLELES CAN BE LOST. BOTH IMMIGRATION AND EMIGRATION
CAN ALTER ALLELIC FREQUENCY.
NO IMMIGRATION OR EMIGRATION
NO NATURAL SELECTION
• IN A POPULATION AT EQUILIBRIUM, NO ALLELES ARE SELECTED OVER OTHER ALLELES. IF SELECTION
OCCURS, THOSE ALLELES THAT ARE SELECTED FOR WILL BECOME MORE COMMON. FOR EXAMPLE, IF
RESISTANCE TO A PARTICULAR HERBICIDE ALLOWS WEEDS TO LIVE IN AN ENVIRONMENT THAT HAS BEEN
SPRAYED WITH THAT HERBICIDE, THE ALLELE FOR RESISTANCE MAY BECOME MORE FREQUENT IN THE
POPULATION.
NO NATURAL SELECTION
HARDY-WEINBERG EQUATIONS
According to the Hardy-Weinberg principle, the variable p often represents
the frequency of a particular allele, usually a dominant one. For example,
assume that p represents the frequency of the dominant allele, R, for red
flower. The variable q represents the frequency of the recessive allele, r, for
white flower. If p and q are the only two possible alleles for this
characteristic, then the sum of the frequencies must add up to 1, or 100
percent. We can also write this as p + q = 1.If the frequency of the R allele in
the population is 0.6, then we know that the frequency of the r allele is 0.4.
HARDY-WEINBERG EQUATIONS
• TO ESTIMATE THE FREQUENCY OF ALLELES IN A POPULATION, WE CAN USE THE HARDY-WEINBERG EQUATION.
ACCORDING TO THIS EQUATION:
p = the frequency of the dominant allele (represented here by R)
q = the frequency of the recessive allele (represented here by r)
• For a population in genetic equilibrium:
p + q = 1.0 (the sum of the frequencies of both alleles is 100%.)
(p + q)2 = 1 so p2 + 2pq + q2 = 1
The three terms of this binomial expansion indicate the frequencies of the three genotypes:
p2 = frequency of RR (homozygous dominant)
2pq = frequency of Rr (heterozygous)
Q2 = frequency of rr (homozygous recessive)

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GENE S IN P OP U L AT ION

üPOPULATION GENETICS IS THE STUDY OF THE GENETIC COMPOSITION OF

GENE FREQUENCY CAN BE DEFINED AS THE FRACTION OR PERCENTAGE OF A

THE ALLELE FREQUENCY (OR GENE FREQUENCY) IS THE RATE AT WHICH A

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