INFOSHEET - SCI313-4 - Evolution and Diversity

EVOLUTION
AND
DIVERSITY
Date Developed:
Bachelor of Science in Bulacan June 2020
Office Management Polytechnic Date Revised: Page 40 of 150
College
Biological Science
SCI 313 Document No. Developed by:
Briann C. Marasigan, MAEd. Revision # 02
30-Sci 313
MODULE CONTENT
COURSE TITLE: Biological Science with HIV and SARS and AIDS
Education
MODULE TITLE Evolution and Diversity
NOMINAL DURATION: 4 HRS
SPECIFIC LEARNING OBJECTIVES:

At the end of this module you MUST be able to:
1. Explain the role of genetics in evolution of organism on Earth
2. Illustrate the physical feature of a human based on the activity given
3. Predict the offspring probability, genotype and phenotype of an organism using the
Punnett square method
TOPIC:
1. Geological Timetable
2. Theory of Evolution
3. Basic Rules in Inheritance
4. Mendel’s Law of Segregation
5. Rule of Probability
6. Punnett Square
7. Law of Independent Assortment
8. Non-Mendelian’s Law
9. Autosomal Recessive/ Dominant Genetic Disorders
ASSESSMENT METHOD/S:
After the reading activity, students should answer the reading comprehension test to
assess their understanding about the lesson. The students will watch videos from a given
video links to deepen their knowledge about theories of evolution, and genetics. Online
discussion via zoom will done to cater student queries about the lesson. At the end of the
lesson, students will be given worksheet to assess their learning about rules of inheritance.
REFERENCE/S:
https://youtu.be/rWp5ZpJAlAE Geologic Time Scale
https://youtu.be/x73bsC7WlsE Theories of Evolution
https://youtu.be/3f_eisNPpnc Mendelian Law of Inheritance and Punnett Squares
https://youtu.be/YJHGfbW55l0 Non-Mendelian Law of Inheritance
https://youtu.be/lm0RXMFlenU Autosomal Recessive/ Dominant Genetic
Disorders
Date Developed:
College
Biological Science
30-Sci 313
Information Sheet SCI 313-4
Evolution and Diversity
Learning Objectives:
After reading this INFORMATION SHEET, YOU MUST be able to:
1. Explain the role of genetics in evolution of organism on Earth
2. Illustrate the physical feature of a human based on the activity given
3. Predict the offspring probability, genotype and phenotype of an organism using the
Punnett square method
INTRODUCTION TO EVOLUTION
History of the Early Earth
Scientists estimate that the earth is more than five billion years old and the life has
been present for about two billion. It is difficult for us to imagine time of the order of
billions of years so we will resort to an analogy we modified from the concept of Irwin
W. Sherman in his Biology.
Let us assume that the history of the earth can be recorded in an encyclopedia of 10
volumes, each having five hundred pages. The age of the earth is five billion years or
then times five hundred million years. Therefore, one page in the volume represents
one million years.
During the first five hundred million years, the solar system was formed on the second
five hundred million years, the earth started to form, and on the third five hundred
million years, the earth’s crust was formed; on the fourth five hundred million years,
the oceans were formed, and on the fifth five hundred millions years and the sixth five
hundred million years, the hot planet earth started to cool. The atmosphere which
contained considerable water vapor condensed and torrential rains fell to wash and
clean the foul-smelling earth. On the seventh or two billion years, the first sign of life
appeared on earth. Man appeared one million years ago. Man’s story is written on the
last page of the last book.
Geological timetable
Date Developed:
College
Biological Science
30-Sci 313
Through the ages, nature has left record of time and change. The layers of the earth’s
crust were formed by sediments theta settle at the bottom of oceans, se lakes or other
bodies of water. Here, the layers are cemented together by chemicals in the water and
pressures of overlaying layers forming rock called sedimentary rocks. New layers settle
above older layers leaving a timetable in rock. The exploration of these layers leaving a
timetable in rock from more recent layer near the surface to the ancient layer deep into
the earth is a journey through millions of years of geological time.
The history of the earth is divided into three eras: Early Paleozoic or Ancient life.
Mesozoic or Middle Life and Cenozoic or Recent life. Each era is further subdivided
into periods or epochs.
Layers of the rock not only date the geological eras but also records the kinds of
organisms on rock are called fossils which may be imprint on rocks or possibly on
whole organism or part of an organism that has been preserved in rock as mineral
matter gradually replace the organic materials that composed the plant and animal.
Fishes were the first vertebrates to appear at the early Paleozoic Era. These fishes had
no jaws no paired fins. During the middle Paleozoic Era, fishes had jaws and paired
fins appeared. In the late Paleozoic Era, amphibians appeared along with some fishes
which had fins with lobes that enabled them to propel themselves on land.
The Mesozoic Era was the great age of the reptiles. During the early Mesozoic, dinosaur
appeared and later disappeared at the late Mesozoic era. Birds appeared in the middle
Mesozoic era. As the great reptiles become extent the birds took over. The first
mammals appeared about seven million years ago during early Cenozoic era. One of
these was the horse which was only as big as a dog. It had several toes on the foot.
Gradually, horses become larger, legs became longer and only one toe remained on
each foot. Some mammals of the Cenozoic era have grown in size tremendously like
the rhinoceros. There were other giants which disappeared before the end of the ice
ages about ten million years ago. The elephants, rhinoceros, and hippopotamus are
the only giant mammals left today. From the presiding discussion it will be noticed that
organisms change new forms appear while some are lost or become extinct. This
process is referred to as evolution.
Lamarck’s Theory of Evolution
This theory of evolution involves three theories:
1. Theory of Need. The production of a new organism or part of the organism arises
from the need for it. Example: The early ancestors of snakes had short legs and
Date Developed:
College
Biological Science
30-Sci 313
short bodies, but because they had to
walk through narrow places, its body
developed into longer and legless forms
and crawled instead of walk. (This was
merely an assumption of Lamarck which
formed the basis for this second law.)
2. Theory of Use and Disuse. Continued
use of an organ strengthens it and
continued disuse of an organ weakens it
until it disappears. Lamarck believed
that continued stretching of the body of
the snakes as they crawl in narrow
places and less use of the legs resulted in longer bodies and loss of the legs.
3. Theory of Inheritance of Acquired Characters. Lamarck believed that
characteristics that have been acquired or changed during the lifetime of the
organisms are transmitted to the offspring. Lamarck believed that present-day
snakes evolved form that who lost their legs through disuse. Thus, they inherited
this trait from the ancestors.
Another example that Lamarck used to support his theory is his statement that
giraffe evolved from short necked forms because of the need to reach leaves from
tall trees. Biologists tested Lamarck’s theory of inheritance but showed that
acquired traits are not inherited.
Theory of Natural Selection
According to Charles Darwin,

the chief factors responsible for
the development of new species
from common ancestry are as
follows:
1. Overproduction. All
organisms produce more
offspring that can actually
survive. Example: At a single
spawning, an oyster may
produce 114,000,000 eggs. If
all eggs developed into adult,
the oceans will be filled up
with oysters.
2. Struggle for Existence.
Because of overproduction,
there is a constant struggle for existence among individuals. Each organism seeks
food, water, warmth, air, and space, but only small percentages of the original
number of offspring reaches maturity and survives.
3. Variation among Individuals. Plant breeders choose plants that are disease-
resistant or control the size or characteristics of fruits by experimentation or cross
fertilization.
4. Survival of the Fittest. Among seeds of the same plant, those with breeder
dispersal devices are carried to distant, less crowded places where there are greater
chances for survival; those that fall on the same place where the plants abound will
die of overcrowding. Of the millions of eggs laid by a fish which hatch into tiny
Date Developed:
College
Biological Science
30-Sci 313
fishes, only a few can escape being eaten by the larger fishes. Slight variations in
speed or instinct can mean survival for the fitted individual. In this way, nature
selects the characteristics of a certain population by favoring even the slightest
variation.
5. Transmission of the variations of the Offspring. Darwin believed that those
changes in the individual brought about by nature giving him a special fitness will
automatically by transmitted to his offspring as the type selected by nature to
continue their species.
Mutation Theory of Evolution

Mutation as a basis for evolution was proposed by Hugo de Vries in 1901. De Vries
found two evening primerose plant that were different from their parents that bred true
of producing offspring with the same variations from the parent stock. After careful
experimentation for many years, he found out that of 50,000 primerose plants, at least
800 plants showed striking non-inherited variations from the parent stock which were
transmitted to the offspring. Varies concluded that similar mutations occurred
frequently among other species and these mutations bring about the evolution of life
through the ages.
Gene Mutation as Cause of Change
Genes are factors in the chromosomes of cells that determine hereditary

characteristics. Genes tend to be stable. The DNA molecules that compose them
replicate from time to time without alteration in stricture. Despite of this, mutations
still occur. In studies of mutation in corn, geneticist found that out of 1,000,000
gametes, mutation in color appears in 492 games. Although this seems quite
infrequent, multiply this number with the number of plants in a hectare, you will come
up with quite a significant number of variations.
Many gene mutations are so slight that there is no apparent difference in the
individual. The fruit fly is believed to contain about 20,000 genes in its chromosomes.
A mutation in one gene may not be a mating with another individual with the same
mutated gene that such a defect may be perpetuated.
Species and Speciation
Date Developed:
College
Biological Science
30-Sci 313
A species is a group of organisms
distinct from all other organisms and
capable of interbreeding with others
of its own kind of produce fertile
offspring. All members of the same
arrangement of genes in the
chromosomes. The development of a
species is a process called
speciation. All through the
development have been disappearing
and new species have been
developing. Speciation is brought about by variation, migration, environment change,
selection, and isolation. We will illustrate this in the following manner.
Organism A is a member of a species population adapted to certain environmental

condition several years ago. The environment is such that migration of individuals can
occur. Let us assume that a mutation occurs in a member of the species population A.
as the mutant gene increase in frequency in the population, some individuals will
express the trait. We will designate these individuals as AB. As both A and AB migrate,
they encounter a new environment. A is not adapted to the new environment and the
perishes. However, the variation in AB makes it adapted to the environment and AB
survives. Through thousands of years, additional mutations occur. Those that are
favorable to the new environment are preserved in the offspring. Finally, a new species
B is produced. Variation and selection have separated A and B to the extent that they
no longer interbreed. As AB continued to live in the new environment, more and more
variations occur so that descendants of A have become more and more different from
A.
Divergence and Convergence
One characteristics of evolution is adaptive radiation. Speciation demonstrates how
one parent species can give rise to the new species. This branching effect is found in
the evolution of all organisms. Then the new species in the turn, becomes the ancestor
of many different forms, which arise at about the same time. This evolving of different
characteristics in closely related groups is called evolutionary divergence. Example: A
mammal-like ancestor gave rise to the bats, rabbits, elephants, whales, and a host of
other different-looking forms, all the same time. Adaptation to environment led to the
divergence.
A condition nearly reverse to adaptive variation is evolutionary convergence. Two or

more unrelated groups that adapt themselves to the same environment may shows
common characteristics. This is called convergence or convergent evolution. Example:
Fishes, whales, and sea lions are all adapted to life in water that they will exhibit the
same shape like whale flippers that resemble the fins of fishes.
Date Developed:
College
Biological Science
30-Sci 313
Lancelet No vertebral column, no jaws, no
four legs, no amniotic egg, no
hair
Lamprey Has vertebral column, no jaws,
no four legs, no amniotic egg, no
hair
Tuna Has vertebral column, has jaws,
no four legs, no amniotic egg, no
hair
Salamander Has vertebral column, has jaws,
has four legs, no amniotic egg,
no hair
Turtle Has vertebral column, has jaws,
has four legs, has amniotic egg,
no hair
Leopard Has vertebral column, has jaws,
has four legs, has amniotic egg,
has hair
This cladogram shows both convergent and divergent evolution. Convergent evolution is a
process whereby two separate species evolve and develop similar traits. Divergent evolution
is the development of different groups that can form new species. In the cladogram, the turtle
and salamander both show convergent evolution because both live-in similar environment
but they have evolved differently. Also in this cladogram, the leopard and lamprey are
examples of divergent evolution because they both show similar ancestry except one species
changed its environment. Morphological evidence provides support that the shape of the
leopard is most definitely different tot that of the lamprey. The turtle and salamander have
similar fossil make-up left behind. Turtles and salamanders can also be found in geological
similar locations. There are still some similarities though. These similarities stayed because
Date Developed:
College
Biological Science
30-Sci 313
of how that has helped that species survive. The reason why some characteristics have
evolved is because those traits will help that specific species survive in their specific
environment. Some characteristics of these organisms is their diets, herbivore and
carnivores. There environments are different because some live on land and others in the
sea.
Date Developed:
College
Biological Science
30-Sci 313
GENETICS
I. the basic rules of inheritance were first demonstrated by

Mendel
A. at the time of Mendel’s work, most thought that parental
traits were fluids that “blend” in offspring
B. Mendel recognized that this model did not explain what he
observed
C. Mendel chose a model system and carefully established
testing conditions
1. he used pea plants that he could outcross or allow to
self-fertilize
2. he chose traits that had two clear possible outcomes
(yellow or green seeds, etc.)
3. he established true-breeding or “pure” lines to use for
genetic crosses
D. terminology for genetic crosses
1. P generation (or P1) = parental generation
2. F1 generation = first generation offspring (from filial)
3. F2 generation = second generation offspring
4. phenotype – appearance or characteristic of an organism
5. genotype – genetic makeup of an organism, determines phenotype
6. gene – unit of heredity; controls a trait that determines a phenotype
7. locus – the location of a particular gene on a chromosome
8. alleles – alternative versions of a gene
9. dominant – allele that dominates over others in determining phenotype
10. recessive – allele whose phenotypic expression is “hidden” when a dominant
allele is present
11. hybrid – offspring from a cross between two “pure” lines of different, competing
phenotypes
II. rules and terminology for examination of genetic inheritance

A. Mendel’s law of segregation
1. when Mendel crossed pure lines of different, competing phenotypes, he found that
the F1 generation was uniform and matched one of the parents’ phenotypes
• example: P1 yellow seed X green seed → all F1 yellow seed
2. when F1 plants were crossed or selfed, the F2 plants had both P1 phenotypes in a
ratio of roughly 3:1
• using offspring from above F1 X F1 → F2 3 yellow seed: 1 green seed
3. thus, contrary to the popular belief of the time, recessive traits are not lost in a
mixing of parental phenotypes – they are merely hidden in some “carrier”
individuals
4. Mendel explained these ratios with what we now call his law of segregation;
stated in modern terms: individuals normally carry two alleles for each gene,
these alleles must segregate in production of sex cells
5. later investigations of cell division revealed the mechanism for segregation: the
pairing and subsequent separation of homologous chromosomes during meiosis
B. genotype vs. phenotype

1. phenotype is the actual appearance or characteristic, and is determined by
genotype; knowing the phenotype will not always directly reveal the genotype
(recessive traits can be masked)
Date Developed:
College
Biological Science
30-Sci 313
2. genotype is the listing of the actual alleles present; if you know the genotype, you
should be able to predict the phenotype
• genotypes are either homozygous or heterozygous
▪ homozygous – the homologous chromosomes have the same allele at the
locus in question
▪ heterozygous – the homologous chromosomes have different alleles at the
locus; if there is a dominant allele the trait of the dominant allele will be
expressed
• the same letter is used to indicate all alleles (superscripts or subscripts are
sometimes needed, if there are more than 2 alleles known)
• DOMINANT ALLELES ARE CAPITALIZED; recessive alleles are lowercase
C. rules of probability govern genetic inheritance

1. the likelihood of a sex cell carrying a particular allele is determined by probability,
its expected frequency of occurrence (expressed in fractions, decimal fractions,
percentages, or ratios)
2. the combination of sex cells to form a zygote is generally ruled by probability as
well
3. thus, the rules of probability govern genetics
4. product rule – when independent but not mutually exclusive events are
combined, you multiply their individual probabilities to get the overall
probability of the result (genetic crosses, X, are multiplications of probabilities)
5. sum rule– if there is more than one way to obtain a result (mutually exclusive
events), you add their individual probabilities to get the overall probability of
the result
• the sum of all possibilities is one (no more, no less)
D. Punnett square – way of diagramming genetic crosses that uses the laws of
probability
E. more terminology
1. test cross – mating an individual that has the dominant phenotype for a trait with
an individual with the recessive phenotype; this often will reveal the genotype of
the dominant parent, or at least give some idea of the probably genotype
2. monohybrid cross – cross between individuals that are both heterozygous for the
gene that you are following; note that these give a 3:1 phenotype ratio and a
1:2:1 genotype ratio
F. practice applying the law of segregation: following one gene in a cross
1. A pea plant with yellow seeds is crossed with a pea plant with green seeds (P1
generation). All 131 offspring (F1 generation) have yellow seeds. What are the
likely genotypes of the P1 plants?
2. Two of the F1 plants from above are crossed. What are the expected ratios of
phenotypes and genotypes in the F2 generation?
3. be sure to work some examples on your own; the textbook and website have
plenty of genetics problems – note how they are typically presented as word
problems and expect that format on your test
III. expanding the rules and terminology to follow two (or more) genes in a cross
A. law of independent assortment
1. dihybrid cross – cross between individuals that are both heterozygous for two
different genes that you are following
2. when Mendel performed dihybrid crosses he found phenotype ratios of 9:3:3:1,
which is explained by the product rule
Date Developed:
College
Biological Science
30-Sci 313
3. this led to Mendel’s law of independent assortment: segregation of any one pair
of alleles is independent of the segregation of other pairs of alleles
• we now know that this is also a consequence of events in meiosis
• this doesn’t hold perfectly true for all genes (see genetic linkage below)
B. using the law of independent assortment in genetic problems
1. with independent assortment a dihybrid cross is simply two separate monohybrid
crosses multiplied
2. avoid making tedious and difficult Punnett squares
IV. Beyond simple genetics: Mendel picked easy fights

A. We have already seen that modifications must be made to Mendel’s laws for linked
genes; there are other situations that do not fit the “simple” cases that Mendel
used
B. incomplete dominance – the heterozygote has a phenotype that is intermediate
between the two homozygous states
1. really, the term dominance has no true meaning here
2. example: red, pink, and white snapdragon flowers
C. codominance – the heterozygote expresses characteristics of both alleles; very much
like incomplete dominance
1. not an intermediate form, instead you see each allele distinctly expressed
2. roan cattle, expressing both red and white hairs, are a good example (the
difference between incomplete dominance and codominance is essentially a case
of splitting hairs)
3. one of the best examples is the ABO human blood type, which will be covered
below
4. how to spot codominance or incomplete dominance: monohybrid crosses with a
1:2:1 phenotype ratio
D. multiple alleles – it is very common for there to be more than two allele types for a
give locus; any time there are three or more alleles types involved, we say that
there are multiple alleles
1. dominance relationships can vary between multiple alleles
2. example: rabbit coat color is influenced by a gene that has four known alleles
3. example: human ABO blood types
• the main blood type is determined by a single locus with three known alleles
(IA, IB, iO)
• IA and IB alleles are codominant with respect to each other
▪ the IA allele leads to the expression of type A antigen on the surface of red
blood cells
▪ the IB allele leads to the expression of type B antigen on the surface of red
blood cells
Date Developed:
College
Biological Science
30-Sci 313
• iO is a recessive allele; the iO allele does not lead to expression of a cell surface
antigen
• resulting blood types:
▪ IAIA or IAiO genotype produce only the A antigen; blood type A
▪ IBIB or IBiO genotype produce only the B antigen; blood type B
▪ IAIB genotype produces both the A antigen and B antigen; blood type AB
▪ iOiO genotype produces no A or B antigens; blood type O
• blood transfusions (or any transplants) must be of the appropriate type,
because the blood of individuals contains antibodies against the antigens not
contained on its red blood cells
▪ thus, type O can only accept type O blood or organs
▪ type AB can accept any type blood or organs (A, B, AB or O); etc.
▪ there are other blood type factors, such as Rh factor, that must be taken
into account
• blood type is used in paternity or maternity cases only as a means to rule out
possible parents
4. the other key component tested for human blood typing is the Rh factor
o while there are actually several Rh factors, one (antigen D) is most commonly
tested and referred to as the Rh factor; most Americans are Rh+
o expression of antigen D on red blood cell surfaces is controlled by a single
gene; the dominant phenotype leads to expression of the antigen (recessive =
no expression)
o inheritance of the Rh factor is thus described by classical Mendelian
inheritance; if you express the dominant phenotype, you are Rh+; if you are
Rh-, then you are homozygous recessive for the gene controlling the factor
o someone who is Rh- should not be given Rh+ blood or organs, because they will
develop antibodies to antigen D and reject the blood or organs
o the Rh factor can cause complications during pregnancy (something not seen
with the ABO bloodgroup)
o there are other blood typings and tissue matchings that are done, but the
ABO/Rh blood typing is the one most commonly used (for example, ABO/Rh is
usually all that matters for blood donation or reception
o
E. pleiotrophy: one gene, many phenotypes
1. one gene affects more than one characteristic
2. usually only one gene product is directly involved, and its status affects many
things
3. many disease genes are pleiotrophic (examples, cystic fibrosis, sickle cell anemia)
F. one phenotype, many genes: gene interactions, epistasis, and polygenic inheritance
1. gene interactions – two or more genes interact to produce a novel phenotype
• examples: rooster combs; coat color in Labrador retrievers
• hallmark of gene interactions: exactly 4 phenotypes are found, and certain
crosses will produce a 9:3:3:1 phenotype ratio in offspring (thus indicating
that they are dihybrid crosses)
2. epistasis – one gene influences the phenotype that a second gene usually
controls, masking any effects of alleles at the second gene; the name literally
means “stopping” or “standing upon”
• example: albinism is generally epistatic
• spot epistasis by modification of dihybrid cross results, getting ratios like 9:7 or
9:3:4 instead of 9:3:3:1
3. polygenic inheritance – multiple, independent genes have similar, additive
effects on a characteristic
• examples include height and skin color in humans
Date Developed:
College
Biological Science
30-Sci 313
• most economically important traits are polygenic (cow milk production, cattle
weight, corn crop yield, etc.)
• polygenic traits don’t fall easily into distinct categories; instead, they usually
are measured traits (quantitative traits)
• when plotted out for a population, polygenic traits produce a normal
distribution curve if mating is random with respect to the trait
G. also note that genotype is not the only basis for phenotype – environment can have a
major impact on what phenotype is seen for some traits
H. Do all of these exceptions invalidate Mendel’s laws?
1. No. Mendel’s laws explain the basic situation, and all of these exceptions are best
understood in light of the mechanisms that Mendel described. Scientists
generally try to understand simple cases before moving on to the more baffling
ones, and often understanding the simpler cases helps form the basis for
understanding the more complicated ones.
• However…it is important to know about these “exceptions” and apparent
exceptions, because most genetic inheritance has some aspect of at least one
of these “exceptions” in it.
V. Autosomal recessive genetic disorders
A. most genetic disorders are inherited as autosomal recessive traits
B. the recessive allele is usually a nonfunctional (or poorly functional) copy of a gene
whose product is needed in metabolism
C. much genetic research with model organisms (mouse, fruit fly, etc.) uses such traits
to determine gene identities and functions
D. gene therapy is considered to be a promising possibility for treatment of many of
these disorders
1. the idea usually is to put a functional copy of the gene into critical body cells
2. the problem is how to get the gene delivered to the cells where it is needed –
sometimes a virus is used to infect cells, with the virus actually carrying and
expressing the desired gene
3. in some cases, particularly if blood is involved, it appears that blood stem cells
may be able to be removed from the patient, transformed (have new genetic
material inserted), and then returned to the patient’s body
4. the most promising transformation mechanism uses embryonic stem cells and
cloning
• take cells from a discarded embryo (relatively common from in vitro
fertilization) and remove the nucleus
• replace the nucleus with one from a putative gene therapy patient, and grow
lots of cells in culture
• perform a technique to the gene you want into the cells, then select for the cells
that do what you want
• grow those cells in culture, treat them with hormones that cause them to
differentiate into the cell type that you want, and put those cells into the
patient
Examples in humans
5. phenylketonuria (PKU)
• most common in those of western European descent; occurs in about 1 in
12,000 human births in the U.S.
• phenylalanine (an amino acid) is not metabolized properly, leading to a buildup
of a toxic compounds that can lead to severe mental retardation
• treated with a diet that dramatically reduces phenylalanine consumption;
potential gene therapy target
6. sickle cell anemia
Date Developed:
College
Biological Science
30-Sci 313
• most common in those of African descent; about 1 in 500 of African-Americans
have it
• caused by a mutation in hemoglobin that makes it tend to crystallize when
oxygen is not bound to it
▪ makes red blood cells take on a sickle shape, which can slow or even block
blood flow through veins and capillaries
▪ can damage tissues due to lack of oxygen and nutrients, and is very painful
▪ shortens lifespan of red blood cells, leading to anemia (low red blood cell
count)
• treatments have increased life expectancy, including stimulating fetal
hemoglobin production and bone marrow transplants; work continues on
gene therapy
• the heterozygous condition actually leads to increased resistance to malaria,
and thus is favored when malaria is present – about 1 in 12 African-
Americans are heterozygous and thus “carriers” for sickle cell anemia
7. cystic fibrosis
• most common in those of European descent (in this group, about 1 in 2500
births, with about 1 in 20 phenotypically normal, heterozygous carriers for
the trait)
• abnormal mucus secretions, particularly in the lungs, due to a defect in Cl- ion
transport
• life expectancy short (about 30 years); treatments are limited – has been a
target for gene therapy trials
• heterozygous carriers may be less likely to die from diarrhea-inducing diseases
(based on mouse model studies involving cholera)
VI. Autosomal dominant genetic disorders in humans

A. severe dominant genetic disorders are not common, because they are usually are not
passed on to the next generation (affected individuals usually die before they have
children)
B. those that do exist typically have late onset of disorder symptoms (late enough for
those with the disorder to have had children)
C. the best known autosomal dominant disorder is Huntington disease (AKA
Huntington’s chorea, or HD)
1. occurs in about 1 in 10,000 human births in the U.S. (no heterozygous carriers –
it is a dominant disorder)
2. affects central nervous system, leading to severe mental and physical deterioration
3. onset of symptoms usually in 30s or 40s
4. one of at least 9 known “trinucleotide repeat disorders” in humans
• HD is caused by a gene with a [CAG] repeat of 36-100x or more (normal allele
has 6-35 of these repeats); more repeats usually means earlier onset
• fragile X syndrome and myotonic dystrophy are two other examples of
trinucleotide repeat disorders
D. hypercholesterolemia is the most common dominant genetic disorder known
(estimates are that as many as 1 in 500 have it); generally causes high cholesterol
levels in the blood, leading to heart disease
VII. Methods of studying human inheritance
A. ethics must be considered in studies of human genetics
1. most genetic research involves producing inbred lines and controlled genetic
crosses
2. since we can’t (or shouldn’t) really do that with humans, we must use other
means
Date Developed:
College
Biological Science
30-Sci 313
3. isolated populations with typically large families are often used because they
provide much inbreeding and many data points
B. family pedigree analysis
1. pedigree – a chart summarizing
phenotypes and/or genotypes within a
family over several generations
2. standard symbols for pedigrees:
• generations are designated with
capital roman numerals, starting with
the oldest generation at the top
• each generation gets one row, and
genetic parents are connected by a
horizontal line
• males are square, females round
• each individual gets a number, going from
left to right for each generation
• a vertical line connects parents to their offspring
• coloring is used to indicate phenotype (and, sometimes, known genotypes)
3. pedigree analyses only work well when a single locus is involved in determining a
phenotype (so-called Mendelian traits); still, many disorder genes have been
identified and characterized with the help of pedigree analysis (some human
genetic disorders will be discussed later in this unit)
4. you need to be able to analyze pedigrees and determine which is the most likely
mode of inheritance for a single-gene trait among these choices: autosomal
dominant, autosomal recessive, X-linked dominant, X-linked recessive
C. karyotyping
1. many genetic problems occur on the large-scale, chromosomal level
2. studies of karyotypes are often done to test for such problems
3. a karyotype display reveals the composition of chromosomes for an individual
• a cell sample is taken (white blood cells, amniocentesis, chorionic villus
sampling, etc.)
• cells are grown in culture, and eventually treated to make chromosomes easy
to photograph
• the chromosome images are then analyzed and used to create the karyotype
display
4. chromosomes are identified by size, position of the centromeres, and staining
patterns
D. human genome project
1. sequencing the human genome provides a means to greatly accelerate studies of
human genetics
• the underlying genetic causes for gene-based traits can be studied more easily
(including traits that involve multiple genes)
• sequence variations can be readily analyzed
• more sophisticated genetic testing can be performed, leading to the potential
for genetically tailored medical treatment. (a “complete” draft of the human
genome sequence (~3 billion base pairs) was made public in April 2003
[coinciding with the 50th anniversary of the Watson and Crick paper
announcing the structure of DNA] – there are ~35,000 genes in the genome,
based on current interpretations of the sequence)
VIII. Genetic testing and screening in humans
A. conclusive tests for many genetic disorders are now available
Date Developed:
College
Biological Science
30-Sci 313
B. especially with the completing of the sequencing of the human genome, more
sophisticated “predictive probability” tests are available, such as for alleles that are
associated with higher rates of breast cancer
C. although testing gives more knowledge, it has limitations (there are often at best
limited treatments for the disorder, and in some cases the test only tells you if you
are more or less likely to have a problem); testing leads to many ethical issues and
concerns that are still being addressed
Date Developed:
College
Biological Science
30-Sci 313

INFOSHEET - SCI313-4 - Evolution and Diversity

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INFOSHEET - SCI313-4 - Evolution and Diversity

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EVOLUTION

MODULE TITLE Evolution and Diversity

NOMINAL DURATION: 4 HRS

SPECIFIC LEARNING OBJECTIVES:

History of the Early Earth

Lamarck’s Theory of Evolution

This theory of evolution involves three theories:

According to Charles Darwin,

Mutation Theory of Evolution

Gene Mutation as Cause of Change

Genes are factors in the chromosomes of cells that determine hereditary

Organism A is a member of a species population adapted to certain environmental

A condition nearly reverse to adaptive variation is evolutionary convergence. Two or

I. the basic rules of inheritance were first demonstrated by

II. rules and terminology for examination of genetic inheritance

B. genotype vs. phenotype

C. rules of probability govern genetic inheritance

IV. Beyond simple genetics: Mendel picked easy fights

VI. Autosomal dominant genetic disorders in humans

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