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Genetics

Mendel and his observations and laws

Genes and Genetic Traits


Other traits can you roll
your tongue when you
stick it out? Are you
double jointed?
How are these traits
passed on to offspring?
What do we mean by
Mendels Laws?
Is it our DNA that
determines these traits?

Genotype & Phenotype

Phenotype- the expression of a genotype in


the outward appearance or function of the
organism. Not all genotypes are expressed as
a phenotype e.g. freckles.
Genotype- the genetic makeup of an
individual for each of its hereditary traits: Its
genetic makeup in the sequence of DNA bases
in the gene.

Mendels Laws
Mendel worked with
plants to discover how
information in the sex
cells (gametes)
contained information
as to specific genetic
traits.

Plant Sex: Pollination


Flowers on plants have sex cells,
formed by meiosis, that are
separated from each other. Many
plants and trees have both the
male gametes and female gametes
in different places on the same
flower. The carpel contains eggs,
and pollen is found at the top of
the stamen. You can cut the pollen
from the stamen on one plant and
sprinkle it on the carpel of another
flower to fertilize the egg. (The
stamens on the other flower would
have been removed.) This is the
basic process that Mendel used to
study genetics..

Plant Sex
This figure illustrates how the
process of fertilization occurs
with pollen from one plant
fertilizing eggs from another
plant. The peas in the pod that
are formed are all separate
individuals results of a
single male gamete (pollen)
and single female gamete
(egg). The individual seeds
(peas) are then planted and
allowed to grow to see what
the new plant looks like.

Seven Traits Mendel Studied


By carefully placing pollen
from one plant with
particular traits on the
carpel of another plant ,
Mendel was able to come
up with how these traits
would appear in the
offspring. Mendel
formulated two laws that
predicted the outcome of
his breeding experiments.

Mendel's Law of
segregation

a. There are alternate forms of


inherited characteristics (alleles)
b. An organisms has two alleles for each
trait- each on different chromosome
c. Alleles separate (segregate) during
meiosis (gamete formation)
d. When different alleles occur together
the dominant allele is expressed

Law of independent
assortment
a. Alleles for different traits
separate independently during
meiosis and gamete formation.
b. Law is not true when different
trait alleles are on same
chromosome.

Homologous Chromosomes
Homologous chromosomes- paired chromosomes
with the same function -one comes from the female
and one comes from the male.
Homozygous trait- an organism that has the same
coded for trait on each of its homologous
chromosomes. Both parents had same genotype.
Homozygous recessive- the organism has inherited
recessive traits from both parents.
Homozygous dominant- the organism has inherited
dominant traits from both parents.

CHROMOSOMES
Heterozygous- the organism has inherited one
dominant from one parent and one recessive trait
from the other parent. It will only express the
dominant trait.
Trait- specific expression of a gene such as blue
eyes or brown hair
Test cross is the breeding of an organism of
unknown genotype with a homozygous recessive
individual to determine the unknown genotype of
parent

Flower Color
In this example, purple
color is dominant. All
offspring from pollen
from purple plant
fertilizing eggs of white
flower- or vise versa
-produces a purple flower
plant. However, when
the F1 generation plants
(heterozygous) are bred
together they form some
white flowered plants
along with the majority
of purple flowered
plants.

Punnett Square calculations


Large letter (P) is used to
symbolized dominant trait,
and small letter (p) is used
for recessive trait. The
heterozygous, F1
generation is composed of
two alleles (Pp) on
homologous chromosomes.
This means that when sex
cells are formed the two
will be found in separate
gametes (P) and (p). We
place gametes with those
separate traits on each axis
of the Punnett square.

Homologous Chromosomes

Homologous Chromosomes in cells are a combination


of the male and female sex cells (gametes) to form the
zygote. One homologous chromosome came from the
male and the other homologous chromosome came from
the female for each homologous chromosome pair

Dihybrid Crosses

The gametes in a dihybrid cross contain two different traits,


and are found on two different homologous chromosomes
(P and p, and R and r). Sex cells would be PR, Pr, pR or pr.

Test cross
Testcross is the breeding of a
homozygous recessive
individual with an unknown
genotype whose phenotype
shows the dominant trait.
The unknown genotype
could be BB or Bb. The
numbers and kinds of
offspring will provide
information on the genotype

Pedigree- following traits


Deafness is due to a
recessive gene (dd)
that is inherited from
parents. This problem
is followed for several
generations and
predictions can be
made about future
offspring.

Autosomal disorders

Incomplete Dominance

Incomplete dominance
produces offspring
that are intermediate in
color between the
parents.

Blood Types

Blood types in humans are type A, B, AB and O.


This is along with rH positive or negative. The
blood type A may be from genotype AA or AO.
See if you can figure out all the options.

Mendelian genetics analysis of


blood types

(a) Punnett square simplifies and predicts


the possible formation of sex cells to form
fertilized zygote. Monohybrid cross 1:2:1.
(b) Red blood cell phenotypes are type A,
B, AB, &O which come from any of the
following combinations of genotypes:
AA,AO,BB,BO,AB, BA,& OO. The rH factor
is independent of the blood types and can
be positive or absent (negative).

Sickle Cell Anemia


Sickle cell anemia is a
genetic disorder that
causes much pain and
suffering. It is a
recessive disease that
requires both parents to
be a carrier of the
disorder. If both
parents are
heterozygous for the
disease than 25% of
their offspring might
have the disorder.

Normal and Sickle red blood cells

Individual who are heterozygous for this trait may be tested


by lowering the oxygen concentration of a sample of blood.
If they are a carrier, there will be some red blood cells that
show the sickle cell trait. A person with the disorder would
have many, many more cells that sickle.

Polygenic Inheritance
Skin color is an example
of polygenic inheritance.
Several different
chromosomes each carry
a gene that gives skin a
dark color. When
individuals have all of the
color genes they are very
dark. An individual who
has none of the color
genes would be very
light.

Recombination
Crossing over during
prophase of meiosis I mixes
up some of the genes for a
particular phenotype. By
studying populations of
offspring, the site for this
gene can be compared to other
genes. The farther apart two
genes on the same
chromosome are the more
likely they will be separated
during crossing over.

Pedegree Hemophilia

The X chromosome contains the gene for blood clotting.


If it is damage in a female, there is no problem as she has
two X chromosomes. If a male inherits a damage X
chromosome he will suffer the disorder as he only has
one X and one Y chromosome.

Pleiotropy is when a single gene has multiple


effects on the organisms.
Incomplete dominance is when the F1 hybrids
have characteristics intermediate between the
parents.
Polygenic inheritance is when there is an additive
effect of different genes on the phenotype. (skin
color)
Epistasis is when one gene alters the expression of
another gene that is independently inherited.