Genes and Gene
Mutations Outline
Note --
Supplemental materials
are in italics.
Supplemental Italics
are required for Bio H/optional for Bio R.
Gene Definition
A. Definition -- a gene (A _ L _ _ E) is a segment of a
C _ _ O _ O _ _ M _
which often codes in this
_ _ _ molecule
for the production of a single
P _ O _ E _ N a.k.a.
a
(P _ _ Y _ _ P _ I _ E).
The subunits of proteins are
known as _ M _ N _ A _ _ D _
and
they are connected together
to form complex proteins at
cytoplasmic organelles known as
R _ _ O _ O _ _ S.
Some of these proteins for which the original gene
coded form cellular and physical body structures that
we can actually see such as H _ _ _

(Unbelievable, that is a person standing there. I also
thought it was a weird shocking pink ice-cream cone,
but I too was wrong.)
and proteins such as N _ _ L _,

while other proteins known as
_ N _ Y _ _ S (Gee! this diagram
looks very familiar) function to
regulate the R _ _ E of
chemical reactions
Definition Revisited
-- I used so many pictures in this
gene definition that it was spread
out perhaps too much. Here's the original
definition in one place. This may help you.
A gene (A _ L _ _ E) is a segment of a
C _ _ O _ O _ _ M _ which often codes in its
_ _ _ molecule for the production of a single P _ O _ E _ N (P _ _ Y _ _ P _
I _ E).
The subunits of proteins are known as _ M _ N _ A
_ _ D _ and are connected
together to form complex proteins at organelles known as R _ _ O _ O _ _ S.
Some
of these proteins form cellular and physical body structures that we can see
such as
H _ _ _ and N _ _ L _, while others known as _ N _ Y _ _ S function to
regulate
the R _ _ E of chemical reactions
Click here to
see the answers to this section!
Many Genes Sometimes Control One Trait
B.
(First attempt) GENERAL RULE ---
(See #1 below and to the right!)

1. Since you have two biological parents, both
the two
pictured fly C _ R _ _ O S _ _ E _
(One above
the map and one below it) and
the G _ _ E _
on them occur in pairs. You
know what a
pair is -- _ _ _ of a kind in
length, shape
and gene markings.
A (a)
Here we see three different chromosomes
with specific genes (Ex. G1, T1, A1 etc.)
identified on the top chromosome.
These chromosomes should each be shown
in P _ _ R _, but I can't control what images I
find in web searches.
(b) Each pair of genes usually
controls a _ _ N _ _ _ trait, as suggested by the two
examples which follow. But there are
also exceptions to this rule which follow.

(c) This is Tongue R O _ _ _ N G, a
single trait
controlled by a single
_ _ _ _ of genes.

(d) Here's
another trait controlled by only a
S _ _ _ _ E pair of
genes. When your
hands are lined up this way, either
your
little fingers are straight or they
are
B _ _ T.
(e) This pattern of one pair of genes controlling one trait is very common
in human biology,
but that does not mean it is the only pattern of inheritance.
2.
Sometimes
M _ _ _ T _ _ N one pair
of genes control one inherited trait. Here are
three common human traits that are each controlled by M _ _ _ I P _ E
pairs of genes.
(a)
Example 1 -- four pairs of genes
regulate human
S _ _ _
pigmentation.
Here's a
world map showing
regions of this
planet and the
degree of skin pigmentation
shown by a typical resident of
that region.
On this world map, it seems
that
E _ U _ T _ R _ A _
regions have people with the
darkest pigmentation.

(b)
(b) Example 2 -- At least two pairs of genes also
regulate human _ Y _
pigmentation.
(Some books say
two pairs and some say three!)
By far the least amount of deposited pigments
(look at the density of spots in the iris of the eye)
occurs in people with which of the eye colors
on the left? Your answer should be true _____ .

(c) Example 3 -- Many
pairs of genes control
human H _ _ _
pigmentation. This
is a shaft from a
person with light
colored hair.
Example 3 -- At least three pairs of genes regulate human H _ I _ _ T

Some people have tall genes from both sides of
the family. Would you believe both of this man's
parents were basketball players? It's true. And
Y _ _ is about 7'6" as a result. Sure looks like
he got a lot of genes for T _ _ _ N _ _ S.

And some people despite having
normal parents end up with genes
for S _ O _ T _ E S _ or at least
genes for some hormone deficiency
resulting in short stature. .
This is Nelson DeLaRosa from
the Dominican Republic. He's the
World's shortest person according
to Guiness.

Nelson gained fame during the 2004 baseball
season when he visited another famous
Dominican in Boston. A lot of people did
not
like that P _ _ _ O lifted Nelson
into the
air. Who knows?? Maybe that's
part of the
reason the Red Sox did not resign this star
pitcher who then jumped to the Mets for the
2005 season.
Click here for the answers to this section.
B.
(Second attempt)
GENERAL RULE --- A single pair of genes usually
controls a
_ _ N _ _ _ trait,
but here's another exceptions to this "rule."
(2)
Sometimes a
S _ _ G _ _ pair of genes
can influence more than one trait.
Example #1 follows: (Remember italics is
optional for Bio R)
(a) Example 1 -- In certain mice, the gene
for yellow fur is dominant (symbol = __)
to that for
the recessive gene for gray
fur (symbol = __). If two heterozygous
yellow mice are bred, what is the
expected outcome (color ratio)
(____OTYPE) of
their offspring in
the following Punnett Square?
:
Mom
Dad
To answer this, complete thus Punnett Square!
![]()
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You would expect __ yellow mouse/mice : __ gray
mouse/mice.
Surprise! The actual obtained data in L _ _ G _ numbers
of matings is approximately 2 yellow: 1 gray. Other experiments showed that all the yellow offspring mice were heterozygous.
This is not what we predicted in the Punnett Square.
From
the Punnett Square, which genotype in real life is missing? Answer = __ __.
It turned out
that the missing mice had never been born; the mother had miscarried
ALL of them. The dominant
gene (allele) symbol Y controls __ (a number) trait(s)
in these mice as given in (1), (2) to follow..
((1)) The heterozygous condition (genes __ __) produces __________
fur
((2)) The homozygous condition, (genes __ __) is a L E _ _ A _ gene
(ask
actors Mel & Danny
if you don't know this word!)
Example #2 Follow: (Regular type -- All students resume work here!)
The
trait for lack of skin pigmentation is known as A _ B _ _ I _ M. You
probably are
more familiar with the other noun A _ B _ _ O which is an organism
which lack such
pigmentation. This G _ _ E M _ _ A T _ O _
for lack of melanin occurs in many species, although it is
rare in most of these species. Sometimes humans artificially select these
non-pigmented
organisms for breeding to have an entire race of them. Here are some
examples of albinos
in many species. You must name the species for each photo.
a) Cutie here is a lab _ _ _.
Since s/he is an albino,
s/he blends
in perfectly with a white background.
b) This
is a WHITE TAILED- _ _ _ _,
but who can tell since we can't
see
the tail and the whole organism
is
now white.
c)
And this is an albino _ _ N _ U _ N
Notice that this guy
seems isolated from
the rest of the group.
I wonder if
prejudice exists in this species!

d) Puppy Power! Some dog breeds are
selected because they are all albinos.
And humans are not exempt either. Here's a collection of human albinos.
I can't get rover & its twin out of here!
Look for the
two different similarities in many of the
albinos pictured above.
Lack of pigmentation (hair, skin & eyes) is not the only trait affected by this
albino gene
See if you can figure out one other similarity (trait) in some of those shown above.
(b) Example 2 -- In humans a person who is homozygous for the
two genes for albinism
(of course one from the M _ _ _ _ R and one
from the F _ _ H _ R) lacks two separate
distinct traits. Most of these people lack
both the trait for adequate
P _ _ _ E _ T _ _ I O _ and lack good E
_ _ S I _ _ T. As stated before, this is the
results of
_ _ _ gene which controls _ _ _ different
traits.
(3)
A human cell contains many
thousands of different genes in its chromosomes found in
its N _ C _ _ _ _.
Click here to see your answers.
C. Chemical components of genes.
(1)
In most
handsome organisms, the coded instructions for specifying the
characteristics of the organism are carried in
_ _ _
molecules (pictured on the left),
formed from subunits known as nucleotides.
These nucleotides which have major
portions in common also have subparts
which differ.
These four different
subparts of a
N _ _ _ E _ T _ _ E are kinds of
Nitrogen B _ _ _ _.
CLUE
One is Guanine represented by the letter __
One is Cytosine represented by the letter __
One is Adenine represented by the letter __
One is Thymine represented by the letter __.
These four letters are the only parts of the DNA molecule which differ
and
allow genes to differ between individuals and between species.
(2)
The chemical and structural properties of DNA
bases are the basis for
how
the
genetic information that makes up (underlies) heredity is both
encoded in ...
G _
_ _ S (as a string of molecular “_ _ _ _ _”)
and
R E _ L _ _ A _ _ D (this means copied exactly
as
in a work of art) by means
of a T E _ P _ A T _
(examples) (pattern of bases).
D. Changes in Genes
Changes in genes are passed
on to
subsequent generations
of C _ _ _ S (pictured)
by the process of M _ _ _ S I S.
(pictured on the left)
(1)
Any change of the DNA sequence is
known as a M _ _ A _ _ O N.
Usually, a changed gene will be
passed
on to every cell that develops from
it.
Syndactyle (fused digits)
(2) People therefore think that all future generations of cells ...
(pictured on the left) from this
altered
cell would have to be (different/ alike)
_____________.
(3) Surprise! This is usually, but not always the
interesting case.
The many body
cells in an individual can be very D _ _ _ E _ E _ T
from one another, even though they are all descended from a
S _ N _ _ E cell, created by the cellular process of M _ _ O S I S
and thus have I _ _ N T _ _ A _ genetic instructions.
This is because different
parts of these _ _ _ instructions are used in
different types of cells
(more information), and are influenced by the
cell’s environment
and past history.
(a)
A white blood cell will only use those
genes which tell it how to
function as a
___________ cell.
A skin cell will only use those genes
which tell it how to function as a
_______ cell.
(c)
A liver cell will only use those
genes which tell it how to
function as a ________ cell.
(d) You get the idea by now!
As time goes by, cells start to
D _ _ _ E _ E _ T _ _ _ E into
different cell types such as
blood cells, skin cells and
liver cells.
Cell
Differentiation
E. Mutations
Mutations occur as R _ _ _ O M
(chance) events
and are usually
H _ _ _ F U L. Two heads are not
always better than one you see.
(Clue, if you have a model
airplane that
flies well and then randomly change a part of the design, are you more
likely to help or to harm the functioning of the design?)
Gene mutations in a cell can
sometimes result in uncontrolled
cell division which invades and takes
over formerly healthy tissues. This is
a group
of diseases called C _ _ _ E _.
(2)
Exposure of cells to certain harmful E N _ _ _ O _ M _ _ _ A L
factors such as
C _ E _ I _ A _ S
(as found in this leafy Virginia
T _ _ A _ _ O plant)
and
harmful R _ _ I _ T _ O _
(such as from the sun)
all
increases gene mutations and thus
increases the chance of cancer.
(3) Examples of
types of radiation that causes mutations are
S _ _ _ I _ _ T
(see above),
_ - R _ _ _ ,
(Not that
cartoon characters like Homer
here have anything to worry
about except
Bart.)
& N _ _ _ E _ R Radiation.
(4) Examples of chemicals that cause mutations are
A _ B _ _ T O _ ,
(as removed quite a few years
ago from
some
of Shenendehowa school buildings.)
& P E _ T _
_ I D _ S such as sprayed
from crop dusting planes and farm
machinery.
(5)
Mutations can be passed on to offspring
only when they occur in
the DNA of
_ _ _ cells (G _ _ E _ _ S such as
O _ _ M or _ P E _ M).
If mutations occur in any other types of cells (non-sexy ones of course), they can be passed on only to other _ O _ Y cells.
\
F. Gene Mutation Diseases (NOTE -- Back to italics for Bio H)
Topic “F” is
required only for Biology H students.
This is interesting disease material,
so Bio R students, if you get done early,
continue on.
F. Some diseases of humans are caused by gene mutations. Let's learn a few.
Disease (1)
This disease if H _ _ O _ Y _ _ U
_ (the two
genes for this disease are the same) results in
deterioration (down fall) of
the N _ _ _ O _ S
system as pictured on the left.
A child
with this disease normally dies
by the age of four.
Since this disease is fatal in childhood,
the parents could not have had two
harmful genes. Each must have had only
_ _ _ gene for this disease and their
second gene was normal.
Such parents, as shown on the chart on the
left, which hide the one bad gene are
known as C _ _ _ I _ R _ of this disease.
(Here's a clue!)
Some of the symptoms of this disease
were first described in the medical literature
in the late 19th century by Dr. Warren Tay (British) and
Dr. Bernard Sachs (US).
Name the disease. T_ Y S _ _ H S
DISEASE
If you want to learn much more about this disease,
click on ...
http://www.mamashealth.com/tay.asp
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Disease (2)
This disease if homozygous results in the
inability to break down a protein subunit
(_ M _ _ O _ C _ D) named
Phenylalanine found commonly in
our diet.
In this diagram, the enzyme is blocked, so the phenylalanine can't be changed into the amino acid tyrosine.
This phenylalanine
then slowly builds up
to toxic levels and gradually retards
_ R _ I _ development. (See photo!)
A blood test at birth quickly tells
the doctor if the child has this disease.
Of course, if you greatly reduce
phenylalanine
from the diet during development, then
the person's with this disease develops
normally. The diet may be boring, but
the child can then develop normally.
Many common products have
phenylalanine
in them and are so marked if you look.
This
person on the left had a normal diet and I
hear a pretty good IQ.
This disease is named for both the amino acid which builds up
in the blood affecting the brain and the toxic ketones (a type of chemical)
found in afflicted children or adults.
Name the disease. P _ _ short for (P _ E _ _ L K _ _ _ U _ _ A)
If you want to learn much more about this disease, click on ... http://www.medhelp.org/lib/pku.htm
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Disease (3)
In a normal person, here's
the structure
of red blood cells (r.b.c.).
This
group of cells is tightly packed
together and does not have fluid
between them.
This disease if homozygous
results in
blood cells that can not maintain their
normal shape.
Here
about half the r.b.c.'s are normal
and