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2 2 Modern Genetics

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14 views

2 2 Modern Genetics

Uploaded by

aachecheutautauta
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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MODERN

GENETICS
PEDIGREE ANALYSIS
PEDIGREE CHART
One of very important tools in studying genetics
and patterns of inheritance
It is similar to a family tree
It uses symbols that show one’s family history
It also shows relations and the phenotypes of
each member.
COMMON SYMBOLS USED IN PEDIGREE
CHART
Male (not expressing the trait)
offspring/ siblings
Male (expressing the trait)
fraternal twins
Female (not expressing the trait) deceased
Female (expressing the trait) Identical twins adopted
Unknown sex
proband miscarriage
Heterozygote

Marriage ( unrelated ) I , II, III --- generation number


Marriage ( related ) 1 , 2, 3 --- offspring number
PEDIGREE CHART
A blue-eyed man, whose parents were brown-eyed, marries
a brown-eyed woman. The woman’s father was brown-eyed
while her mother was blue-eyed. They have one female child
who is blue-eyed. Blue eyes are mostly recessive. Make a
pedigree chart and label the genotypes of the individuals in the
chart.
Hh
• The father has normal vision while the mother is a carrier for color blindness. They have four
children

1. Normal female
2. Carrier female
3. Normal male
4. Carrier male

• The normal male marries a normal female. They have two sons who are both normal and both
marries to a woman who is also a carrier for color blindness. The eldest son has two children one
normal female and a color-blind male. The youngest son has fraternal twin and whose trait is
opposite to their cousin.
A male who is a carrier for the trait marries a normal male. They
have two daughter and the youngest is a carrier for a trait marries
a man who is also a carrier for a trait. They have 3 children one is
a normal female, 1 normal male and also the youngest son is a
carrier for a trait.
TRACE YOUR LINEAGE
1. Choose only one inheritable trait that you want to trace in your family
line. Ask around your relatives if this is present or absent up to the third
generation( grandfather, grandmother, aunts, uncles, cousins) in your
family.

2. After surveying, create a pedigree chart of your family line using the
symbols. Use the worksheet provided.
KARYOTYPE
• A karyotype is simply a picture of a
person's chromosomes.
• In order to get this picture, the
chromosomes are isolated, stained,
and examined under the microscope.
• Most often, this is done using the
chromosomes in the white blood
cells.
GENETIC RECOMBINATION
It is the process of recombining genes
to produce offspring with traits that
are different from those of their
parents.

This involves the exchange of genetic


material, either between multiple
chromosomes or between different
regions of the same chromosome.
SEX LINKAGE
It is a special pattern of inheritance.
It applies to genes that are located on the sex
chromosomes.

SEX CHROMOSOMES
it determines if an individual is male or female.
Females receive two X chromosome, one from each
parent (XX)
Males get an X chromosome from their mother and Y
chromosome from their father (XY)
• Duchenne Muscular
Dystrophy
• Melanoma
• X-inactivation center
• X-linked severe combined
immunodeficiency (SCID)
• Colorblindness Testis-determining
• Hemophilia factor
X – LINKED DOMINANT
• Offspring whose parents are affected with
an X-linked dominant trait has a 50%
chance of inheriting the
trait/mutation/disorder.
• If only the father is affected, all of the
females will be affected, since they inherit
their father’s X chromosome, and none of
the male sons will be affected.
• When the mother is affected, then there is
50% chance that the son or daughter is
affected.
Examples of X – LINKED DOMINANT

• Vitamin D resistant rickets: X-linked hypophosphatemia


• Rett syndrome –
• Alport syndrome
• Incontinentia pigmenti
• Goltz syndrome
• X-linked dominant porphyria
• Fragile X syndrome
X – LINKED RECESSIVE
• A female parent possessing one X–
linked recessive mutation is considered a
carrier.
• This means that they will not manifest
clinical symptoms of the disorder but
will pass on this trait to the next
generation.
• All males possessing X-linked recessive
mutation will be affected
X – LINKED RECESSIVE
• Red–green color blindness, a very common trait in humans and frequently used to explain
X-linked disorders.
• Hemophilia A, a blood clotting disorder caused by a mutation of the Factor VIII gene and
leading to a deficiency of Factor VIII. It was once thought to be the "royal disease" found in
the descendants of Queen Victoria.
• Hemophilia B, also known as Christmas disease, a blood clotting disorder caused by a
mutation of the Factor IX gene and leading to a deficiency of Factor IX. It is rarer than
hemophilia A. As noted above, it was common among the descendants of Queen Victoria.
• Duchenne muscular dystrophy, which is associated with mutations in the dystrophin gene.
It is characterized by rapid progression of muscle degeneration, eventually leading to loss of
skeletal muscle control, respiratory failure, and death.
• Becker's muscular dystrophy, a milder form of Duchenne, which causes slowly progressive
muscle weakness of the legs and pelvis.
A man with hemophilia(h) marries a woman who
manifest the disorder, but who is a carrier of hemophilia, what
is the probability that their daughter will have hemophilia?
That their son will be hemophilia?
A man with hemophilia marries a woman who manifest the
disorder, but who is a carrier of hemophilia, what is the probability that
their daughter will have hemophilia? That their son will be
hemophilia?

Y GR: 1
1
1
1
PR: normal but carrier female
normal male
PR: or 50 % hemophiliac female
hemophiliac female
or 50 % hemophiliac male
hemophiliac male
Note: The denominator will become 2 since there is 2 males and females and each of them is equals to 50% not 25% though
the boxes are four because in is a sex related pattern of inheritance.
If a colorblind woman
married a man with normal color
vision and had kids, what are the
chances of their sons being
colorblind? What are the chances of
their daughters being carriers? Use
the following symbols to represent
the genotypes:
Y -LINKED
Y-linkage (holandric inheritance) is the
manifestation of a phenotypic trait by an allele
on Y chromosome.
Since the Y-chromosome is smaller compared
to the X chromosome, few traits are Y linked.
Y-linked traits are passed only from father to
son, with no genetic recombination occurring.
SEX INFLUENCED AND SEX
LIMITED TRAITS
SEX INFLUENCED or SEX CONDITIONED
TRAITS
• It pertains to the traits that are phenotypically
expressed depending on whether the individual is
male or female.

SEX LIMITED TRAITS


• These are characters only expressed in one sex.
• These may be linked by genes on either autosomal or
sex chromosomes
A bald man (bb) is
married to a woman who
is heterozygous genotype
for baldness. What are the
chances that their male
and female offspring will
suffer from baldness?
4321`

• Andrei who is heterozygousFemale Genotypes Female Phenotypes


no beard got married to a XXBB No beard

woman who is homozygousXXbbXXBb No beard


No beard
dominant no beard. What is Male Genotypes
the probability of their XYBB
XYBb
No beard
No beard
possible offspring? XYbb Bearded

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