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Unit 4 and 5

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9 views15 pages

Unit 4 and 5

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binadaal5
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UNIT IV

Modification of Mendelian Ratios


Genes come in different varieties, called alleles
Somatic cells contain two alleles for every gene, with one allele provided by each parent
of an organism
However, an allele that is hidden, or not expressed by an organism, can still be passed on
to that organism's offspring and expressed in a later generation.

Today, scientists use the word "phenotype" to refer to what Mendel termed an organism's
"external resemblance,"

the word "genotype" to refer to what Mendel termed an organism's "internal


nature."
In some cases, both parents provide the same allele of a given gene, and the offspring
is referred to as homozygous ("homo" meaning "same") for that allele.
In other cases, each parent provides a different allele of a given gene, and the offspring
is referred to as heterozygous ("hetero" meaning "different") for that allele.
Dominance, breeding experiments, and Punnett
squares

The best way to understand the dominance and


recessivity of phenotypes is through breeding
experiments. Consider, for example, a breeding
experiment in which a fruit fly with brown body color (BB)
is mated to a fruit fly with black body color (bb).
The breeding, or cross, performed in this
experiment can be denoted as BB × bb.

When conducting a cross, one way of showing the


potential combinations of parental alleles in the
offspring is to align the alleles in a grid called
a Punnett square, which functions in a manner
similar to a multiplication table
Chromosomes occur in identical pairs. These are
called homologous pairs. One chromosome from each
homologous pair comes from the mother and is called
the maternal chromosome and the other comes from the
father and is called the paternal chromosome. As the
chromosome occur in pairs then so do the genes. In fact
the chromosomes in a pair carry the same genes in the
same places, but they may be different version of the
genes. These different versions of the same gene are
called alleles.
The symbol B is used to represent the brown
allele.
The symbol b is used to represent the blue
allele.
If the girl has two B alleles, she will have
brown eyes.
Her genotype is BB as this refers to the alleles
she has.
Her phenotype is brown as this refers to her
appearance.
She is homozygous for eye colour because both
her alleles are the same.
If the girl has two b alleles, she will
have blue eyes.

Her genotype is bb as this refers to


the alleles she has.
Her phenotype is blue as this refers to
her appearance.

She is homozygous for eye colour


because both her alleles are the
same.
What happens if the girl has one Brown allele (B) and
one blue allele (b)?

Her genotype is Bb as this refers to the alleles she has.


She is heterozygous for eye colour because both her
alleles are different.
When there are two different alleles, one is stronger than
the other. Her phenotype is determined by the stronger of
the two alleles. The brown allele (B) is stronger than the
blue allele (b) and masks its effect.

The stronger brown allele (B) is referred to


as dominant as it will always show or dominate, even if
the individual has one copy of it.
The weaker blue allele (b) is referred to as recessive, it
will only show if the individual has two copies of it.

The girl’s phenotype is brown, because the brown allele


is dominant.
Multiple alleles among
humans
There are traits in humans and other
organisms that have three or more
different types of alleles (genes). When a
trait has three or more distinct alleles, we
refer to it as having multiple alleles
inheritance. The human ABO blood type
alleles/trait is an example of a trait with
multiple alleles. Three distinct alleles
exist: allele A (IA), allele B (IB), and allele i
(IO or i).
If the allele A is present on the
chromosome, protein A is produced, and
the red blood cells of that individual
contain protein A on their membrane. If
the chromosome contains the allele B,
protein B will be produced, and the red
blood cells’ membranes will contain
protein B. Finally, if allele i is present on
the chromosome, neither protein A nor
protein B will be synthesized. These three
UNIT V.
Sex Determination and Sex
Chromosomes
Sex Determination and Sex Chromosomes

human male has two sex chromosomes, the X and the Y. Unlike the \
[44\] autosomes (non-sex chromosomes), the X and Y don’t carry the
same genes and aren’t considered homologous.
Sex chromosomes in humans
Human X and Y chromosomes determine the biological sex of a
person, with XX specifying female and XY specifying male.
Although the Y chromosome contains a small region of similarity
to the X chromosome so that they can pair during meiosis, the Y
chromosome is much shorter and contains many fewer genes.
To put some numbers to it, the X chromosome has about \[800-
900\] protein-coding genes with a wide variety of functions,
while the Y chromosome has just \[60-70\] protein-coding
genes, about half of which are active only in the testes (sperm-
producing organs)
The human Y chromosome plays a key role in
determining the sex of a developing embryo. This
is mostly due to a gene called SRY (“sex-
determining region of Y”). SRY is found on the Y
chromosome and encodes a protein that turns on
other genes required for male development\
[^{5,6}\].
•XX embryos don't have SRY, so they develop as
female.
•XY embryos do have SRY, so they develop as
male.
X-linked genes
When a gene is present on the X chromosome, but
not on the Y chromosome, it is said to be X-linked.
X-linked genes have different inheritance patterns
than genes on non-sex chromosomes (autosomes).
That's because these genes are present in different
copy numbers in males and females.
X-linked genetic disorders
The same principles we see at work in fruit flies
can be applied to human genetics. In humans, the
alleles for certain conditions (including some forms
of color blindness, hemophilia, and muscular
dystrophy) are X-linked. These diseases are much
more common in men than they are in women due
to their X-linked inheritance pattern.
Let's explore this using an example in
which a mother is heterozygous for a
disease-causing allele. Women who are
heterozygous for disease alleles are said
to be carriers, and they usually don't
display any symptoms themselves. Sons
of these women have a \[50 \%\] chance
of getting the disorder, but daughters
have little chance of getting the disorder
(unless the father also has it), and will
instead have a \[50\%\] chance of being
carriers.
Recessive X-linked traits appear more
often in males than females because, if
a male receives a "bad" allele from his
mother, he has no chance of getting a
"good" allele from his father (who
provides a Y) to hide the bad one.
Females, on the other hand, will often
receive a normal allele from their
fathers, preventing the disease allele
from being expressed.

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