Mendelian
Disorders
INTRODUCTION :
In humans, Mendelian disorder is a type of genetic disorder primarily
resulting due to alterations in one gene or as a result of abnormalities
in the genome. Such a condition can be seen since birth and be
assumed on the basis of family history using the family tree. The
analysis hence carried out is known as pedigree analysis.
In human genetics, pedigree study provides a strong tool, which is
utilised to trace the inheritance of a specific trait, abnormality or
disease. Symbols used in pedigree analysis are:
Each and every feature in any organism is controlled by one or
the other gene located on the DNA present in the chromosome.
DNA is the carrier of genetic information which is transmitted
from one generation to the other without any change or
alteration.
However, changes or alteration do take place occasionally. Such
an alteration or change in the genetic material is referred to as
Mutation. A number of disorders in human beings have been found
to be associated with the inheritance of changed or altered genes
or chromosomes.
Gregor Johann Mendel was a scientist who is
recognized as the Father and Founder of
Genetics.
Mendel conducted many experiments on the pea
plant (Pisum sativum) between 1856 and 1863.
He studied the results of the experiments and
deducted many observations.
Thus, Laws of Inheritance or Mendel’s Laws of
GREGOR JOHANN
MENDEL Inheritance came into existence.
SEX LINKED DISORDERS AUTOSOMAL DISORDERS
Coded by the genes located on Coded by the genes located on
the sex chromosome from the autosomes from parents to
parents to offspring offspring
Unequal chances Male and female are affected
with equal frequencies
Sex-linked recessive
and dominant Autosomal recessive
and dominant
Easily studied using a family
pedigree Not easy to study
Colour blindness and Haemophilia are sex linked recessive
disorders whereas Sickle cell anaemia, Phenyl ketonuria and
Thalassemia are autosomal recessive disorders.
Sex linked disorders:
A genetic disorder caused by the gene present in the sex
chromosome. In humans, it is caused by the X and Y
chromosome. Genes on the X chromosome can be both
dominant and recessive.
Colour blindness
It is a sex-linked recessive In case of females, there
disorder due to defect in either are three cases:
red or green cone of eye
resulting in failure to The two X chromosomes are
discriminate between red and normal so that she is not
green colour. suffering from colour
blindness
The gene responsible for If either one of the X
distinguish the colour is X chromosome has colour
chromosome where in the blindness gene, then the
dominant form the colours can be female is said to be a
identified whereas in the carrier
recessive form the colours cannot Rarely, she will inherit a
be identified colour blind X from her
father and a colour blind X
The colour blind gene is carried from her mother and will be
on one of the X chromosomes. suffering from colour
Since males have only one X blindness.
chromosome, if his X chromosome It occurs in about 8% of
carries a colour blind gene, he males and 0.4% in females
will be suffering from colour because of the presence of
blindness. only one X chromosomes in
males and two X
chromosomes in females.
The mother is not herself
colour blind because the
gene is recessive. That
means that its effect is
suppressed by her matching
dominant normal gene.
A daughter will be colour blind, only when her mother is a
carrier and her father is colour blind.
Let’s consider a case where the father is colour blind and the
mother is carrier:
If the father of a child is colour blind (XCY) and mother is
carrier of colour blindness (XXC), then probability of the
child being colour blind is 50%.
Symptoms:
Rapid eye movement
Sensitivity towards bright
light
Trouble is seeing colours and the
brightness of colours
The problems in identifying the
different between colour shades
Issues in identifying red and green
colours.
Haemophilia
Haemophilia is a sex linked recessive disorder, which shows its
transmission from unaffected carrier female to some of the male
progeny.
In this disease, a single protein that is a part of the series of
proteins involved in the clotting of blood is affected.
Conclusion
Genetic disorders occur as a result of a mutation to DNA. This
mutation may affect whole chromosomes or the specific genes
within chromosomes. DNA mutations may also happen within the
DNA of mitochondria, which power a person's cells.
Most genetic conditions are heritable, but some can occur for
the first time within the person who experiences the disorder.
But is some cases, there may be medications available to help
slow the progression of a particular disease.
Symptoms:
Intellectual problems
Seizures
Behavioral problems
Delayed growth
Skin disorders
Musty odour in the urine and breath
A baby born to a mother who has poorly treated PKU may have
the following problems:
Heart problems
A small head
Low birth weight
Due to this, in an affected individual a simple cut will result in non-stop
bleeding. The family pedigree of Queen Victoria shows a number of
haemophilic descendants as she was a carrier of the disease and thus
haemophilia is also referred as The Royal Disease
The heterozygous female (carrier) for haemophilia may transmit the
disease to sons. The possibility of a female becoming a haemophilic is
extremely rare because mother of such a female has to be a carrier and
the father should be haemophilic.
Let’s consider a case where the father is affected with haemophilia and
the mother is carrier:
If the father of a child is
Haemophilic (XhY) and mother is
carrier of haemophilia (XXh), then
probability of the child (daughter
and son) being Haemophilic is
50%. The probability of carrier
daughter is 25% and an unaffected
son is 25%
Symptoms:
Prolonged bleeding from cuts and joints
Nose bleeding
Bruising
Unusual bleeding after vaccinations.
Pain, swelling or tightness in your joints.
Blood in your urine
Sickle-cell anaemia
This is an autosome linked The defect is caused by the
recessive trait that can be substitution of Glutamic acid
transmitted from parents to the (Glu) by Valine (Val) at the
offspring when both the partners sixth position of the beta
are carrier for the gene. globin chain of the haemoglobin
molecule.
This disease is controlled by a
single pair of allele, HbA and HbS.
The mutant haemoglobin
molecule undergoes
The phenotype for the diseased
polymerisation under low oxygen
one is HbSHbS – homozygous.
tension causing the change in
the shape of the RBC from
Heterozygous individual whose
biconcave disc to elongated
phenotype is HbA HbS is
sickle like structure
considered as carrier of the
disease
Heterozygous (HbAHbS) individuals Symptoms:
appear unaffected but they are
carrier of the disease. So there
Swelling in hands and feet
is 50 per cent probability of
transmission of the mutant gene Joint pain that
to the progeny, thus exhibiting
resembles arthritis.
sickle-cell trait.
Chronic nerve pain.
It converts a GAG codon at
sixth position into GUG codon (A Life-threatening infections.
sequence of three consecutive
Anemia (decrease in red
nucleotides)
blood cells).
Phenylketonuria
The affected individual lacks an enzyme that converts the amino acid
phenylalanine into tyrosine.
As a result of this phenylalanine is accumulated and converted into phenyl
pyruvic acid and other derivatives.
Accumulation of these in brain results in mental retardation.
These are also excreted through urine because of its poor absorption by
kidney
AATHMALAYAA SENIOR
SECONDARY SCHOOL
BIOLOGY INVESTEGATORY
PROJECT WORK
ACKNOWLEDGEMEN
T
2022-2023
I would like to express my sincere gratitude to
my biology teachers,Mrs.Sudha and Mrs.Sameena
for their vital support,courage and encouragement
without which the project has not come forth.I
would also like to express my gratitude to the
Principal of my institution,Mrs.Sukanya for her
devotion towards this project.Without their
motivation and help the successful lcompletion of
this project would not have been possible.
-v.sivasriram.
CERTIFICATE
This is to certify that BIOLOGY project
titled “ MENDELIAN DISORDERS ” has
been successfully completed by
SIVASRIRAM.V of class XII in partial
fulfillment of CENTRAL BOARD OF
SECONDARY EDUCATION (CBSE) leading
to the award of annual examination of the
year 2022-2023.
PRINCIPAL TEACHER IN-CHARGE
EXTERNAL EXAMINER
This law states that in a heterozygous
condition, the allele whose characters are
expressed over the other allele is called
the dominant allele and the characters of
LAW OF
this dominant allele are called dominant
DOMINANCE
characters. The characters that appear in
the F1 generation are called as dominant
characters. The recessive characters
appear in the F2 generation.
The law of segregation states that during
the production of gametes, two copies of
each hereditary factor segregate so that
LAW OF
offspring acquire one factor from each
SEGREGATION
parent. In other words, allele (alternative
form of the gene) pairs segregate during
the formation of gamete and re-unite
randomly during fertilization.
This means that at the time of gamete
formation, the two genes segregate
independently of each other as well as of other
traits. Law of independent assortment
LAW OF
emphasizes that there are separate genes for
INDEPENDENT
separate traits and characters and they
ASSORTMENT
influence and sort themselves independently of
the other genes.
