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Patterns of Inheritance

The document discusses different patterns of inheritance for genetic diseases. It explains that Mendel first observed patterns of gene segregation in peas that determined probabilities of traits being passed down to offspring. The five basic modes of inheritance are described as autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive, and mitochondrial. Each pattern is characterized by how the disease is transmitted from parents to children across generations. Accurate family histories are important for determining the pattern of transmission for diseases that run in families.

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Ketch Tim Infante
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20 views

Patterns of Inheritance

The document discusses different patterns of inheritance for genetic diseases. It explains that Mendel first observed patterns of gene segregation in peas that determined probabilities of traits being passed down to offspring. The five basic modes of inheritance are described as autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive, and mitochondrial. Each pattern is characterized by how the disease is transmitted from parents to children across generations. Accurate family histories are important for determining the pattern of transmission for diseases that run in families.

Uploaded by

Ketch Tim Infante
Copyright
© © All Rights Reserved
Available Formats
Download as PDF, TXT or read online on Scribd
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The Patterns

of
INHERITANCE
INFANTE, KETCH TIM
PAGALILAWAN, CARLA JHIN
DUJALI, NIÑA
SILBEJA, CRISTINE
SINADHAN, LAYKA ANN
VILLAN, ANGEL
The basic laws of inheritance are important in understanding
patterns of disease transmission. The inheritance patterns of
single gene diseases are often referred to as Mendelian since
Gregor Mendel first observed the different patterns of gene
segregation for selected traits in garden peas and was able to
determine probabilities of recurrence of a trait for subsequent
generations. If a family is affected by a disease, an accurate
family history will be important to establish a pattern of
transmission.
In addition, a family history can even help to exclude genetic
diseases, particularly for common diseases where behavior
and environment play strong roles.
THE EXPRESSION OF THE MUTATED
ALLELE WITH RESPECT TO THE
NORMAL ALLELE CAN BE
CHARACTERIZED AS DOMINANT, CO-
DOMINANT, OR RECESSIVE. THERE ARE
FIVE BASIC MODES OAF INHERITANCE
FOR SINGLE-GENE DISEASES:
AUTOSOMAL DOMINANT, AUTOSOMAL
RECESSIVE, X-LINKED DOMINANT, X-
LINKED RECESSIVE, AND
MITOCHONDRIAL
Patterns
of
INHERITANCE
Autosomal Dominant

• Each affected person has an affected parent


• Occurs in every generation

Autosomal Recessive

• Both parents of an affected person are carriers


• Not typically seen in every generation

X-linked Dominant

• Females more frequently affected


• Can have affected males and females in same generation
X-linked Recessive

• Males more frequently affected


• Affected males often present in each generation

Mitochondrial

• Can affect both males and females, but only passed on by females
• Can appear in every generation
AUTOSOMAL
DOMINANT In diseases/disorders:

In genetics, dominance is the Autosomal dominant is a pattern


phenomenon of one variant of a gene on of inheritance characteristic of
a chromosome masking or overriding the some genetic disorders.
effect of a different variant of the same “Autosomal” means that the gene
gene on the other copy of the in question is located on one of
chromosome. The first variant is termed the numbered, or non-sex,
dominant and the second is called chromosomes. “Dominant”
recessive. means that a single copy of the
mutated gene (from one parent)
is enough to cause the disorder.
AUTOSOMAL
DOMINANT
Autosomal inheritance is when a parent
passes down a condition to a child via
autosomes, a type of chromosome. In
autosomal inheritance, a copy of a
faulty gene from one parent can cause
a condition in the child. The child will
have 50% chance of inheriting the faulty
gene.
AUTOSOMAL
DOMINANT

CONDOMINANCE
Codominance
Codominance, as it relates to genetics,
refers to a type of inheritance in which
two versions (alleles) of the same gene
are expressed separately to yield
different traits in an individual.
AUTOSOMAL
DOMINANT

INCOMPETE
CONDOMINANCE
Incomplete dominance is a form of
Gene interaction in which both alleles of
a gene at a locus are partially
expressed, often resulting in an
intermediate or different phenotype. It is
also known as partial dominance. For
eg., in roses, the allele for red colour is
dominant over the allele for white
colour.
AUTOSOMAL
RECESSIVE
Autosomal recessive is a pattern of Autosomal recessive is one of
inheritance characteristic of some several ways that a trait, disorder, or
genetic disorders. “Autosomal” means disease can be passed down
that the gene in question is located on through families.
one of the numbered, or non-sex,
chromosomes. “Recessive” means that An autosomal recessive disorder
two copies of the mutated gene (one means two copies of an abnormal
from each parent) are required to cause gene must be present in order for
the disorder. the disease or trait to develop.
AUTOSOMAL
RECESSIVE
What
is
X-LINKED
INHERITANCE?
X-linked inheritance means that the gene causing the trait or
the disorder is located on the X chromosome. Females have
two X chromosomes; males have one X and one Y. Genes on
the X chromosome can be recessive or dominant.
Families with an X-linked dominant disorder often have both
affected males and affected females in each generation. A
striking characteristic of X-linked inheritance is that fathers
cannot pass X-linked traits to their sons; fathers only pass X
chromosomes to their daughters and Y chromosomes to their
sons.
X-LINKED
DOMINANT
X-linked dominant disorders are seen
more commonly in females than in
males, or in the case of some diseases,
affect only females. In the latter case, it
is thought that the hemizygous males
are so severely affected, they do not
survive. This may be reflected in the
pedigree by multiple miscarriages or
male infant deaths
How can you identify an X-linked dominant trait?

• This kind of trait affects both males and females


equally and does not skip generations.
• All affected males have an affected mother.
• All affected females have an affected father or
mother.
• All female progeny of an affected male are affected.
X-LINKED
RECESSIVE
X linked Recessive Inheritance In an X-linked recessive
A male with an affected allele on his single X inheritance pattern, the
chromosome is hemizygous and can not abnormal (mutated) gene is
transmit the disorder to their male on the X chromosome.
offsprings, but all his daughters would be Duchenne muscular
obligate carriers. Healthy heterozygous dystrophy, some types of
carrier females pass the disorder to colorblindness and
affected sons. hemophilia A are examples of
X-linked recessive disorders.
X-LINKED
RECESSIVE
How are X-linked recessive diseases
inherited?

If a female carrier has a son, he will


inherit the X chromosome with the
correct gene or the X chromosome with
the altered gene. This woman's sons,
therefore, will have a 50% chance (1 in 2
chance) of inheriting the mutated gene
and developing the disease.
MITOCHONDRIAL
INHERITANCE
Unlike nuclear genes, which are inherited Mitochondrial DNA is usually
from both parents, mitochondrial genes inherited only from our mothers.
are inherited only from the mother. If there Both egg and sperm cells
is a mutation in a mitochondrial gene, it is contain mitochondria with
passed from a mother to all of her mitochondrial DNA, but after
children; sons will not pass it on, but fertilization the mitochondria
daughters will pass it on to all of their from the sperm are almost
children, and so on. always destroyed.
MITOCHONDRIAL
INHERITANCE Mitochondrial Disease
Mitochondrial diseases are a group
of genetic conditions that affect how
mitochondria in your cells produce
energy. Mitochondria produce most
of the energy your body needs. If you
have a mitochondrial disease, your
cells aren’t able to produce enough
energy. There isn’t a cure, but
treatment can prevent life-
threatening complications.
REFERENCES
https://www.genome.gov/genetics-glossary/Autosomal-Recessive-Disorder
https://images.app.goo.gl/7UfkRdvmXQnoemUUA
MedlinePlus (.gov)
Autosomal dominant: MedlinePlus Medical Encyclopedia
https://www.ncbi.nlm.nih.gov/books/NBK115561
https://images.app.goo.gl/9CtJxTmbhVomKoJN9
https://www.google.com/imgres?
imgurl=https%3A%2F%2Fptop.only.wip.la%3A443%2Fhttps%2Fwww.wikidoc.org%2Fimages%2Fa%2Fa3%2FXlinkRecessive.jpg&tbnid=rRusJv
wFTb6xhM&vet=1&imgrefurl=https%3A%2F%2Fptop.only.wip.la%3A443%2Fhttps%2Fwww.wikidoc.org%2Findex.php%2FX-
linked_recessive&docid=FV9pdKBqKpb31M&w=307&h=396&itg=1&source=sh%2Fx%2Fim%2Fm1%2F2&sh
em=uvafe2
https://www.google.com/url?
sa=t&source=web&rct=j&opi=89978449&url=https://www.share4rare.org/news/what-x-linked-
recessive-
inheritance%23:~:text%3DHow%2520are%2520X%252Dlinked%2520recessive,gene%2520and%2520dev
eloping%2520the%2520disease.&ved=2ahUKEwiw1MSV78WCAxVYUGwGHSa3AssQFnoECAsQBQ&usg
=AOvVaw3p3xWeJk2mde6fT3YNjisJ
END

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