Janice Bio Draft

DRAFT
PEDIGREE ANALYSIS-
Introduction-
Gregor Mendel worked on the principles of inheritance in
genetics long ago. His work helped form the fundamentals of
genetics and inheritance patterns in living organisms. Later,
scientists developed another approach to help us understand
the inheritance of genes in living organisms. This approach is
known as the pedigree analysis.
What is pedigree analysis?

Pedigree analysis was developed to understand the inheritance
of genes from parents to offspring. It was developed as a chart
that can represent a family tree along with the family members
and their genetic traits, respectively.
Gregor Mendel’s experiments showed that the “factors” that we
now know as “genes”, are the factors that are responsible for the
inheritance of traits from parents to offspring.
These genes are responsible for the characteristics of a living
organism and can also be the reason for some disorders
present in them.
These conclusions are based on the evidence provided by the
controlled cross-experiments in pea plants and other organisms.
Since we can’t perform similar experiments on human
populations due to ethical reasons, we formed pedigree analysis
to study the pattern of the inheritance even when we have
limited data.
Mendelian disorders are genetic diseases that follow a
Mendelian inheritance pattern, and their inheritance is controlled
by Mendelian genetics. Therefore, by studying an individual’s
family history through pedigree analysis, we can predict whether
an individual is at risk of a genetic disorder .
DIAGRAM
Mendelian disorders
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 deduced on the basis of family history using the family
tree. The analysis hence carried out is known as pedigree analysis.
These genetic disorders are quite rare and may affect one person in
every thousand or a million. Genetic disorders may or may not be
inherited. Inheritable genetic disorders usually occur in the germline
cells, whereas in non-inheritable genetic disorders the defects are
generally caused by new mutations or due to some changes in the
DNA. For instance, cancer may either be caused by an inherited
genetic condition, or by a new mutation caused by environmental
causes or otherwise.
TYPES OF MENDELIAN DISORDERS-

1. Autosomal dominant.
2. Autosomal recessive.
3. Sex-linked dominant
4. Sex-linked recessive.
Examples of Mendelian Disorders

A few examples of the Mendelian disorder in humans are
 Sickle cell anemia

 Muscular dystrophy
 Cystic fibrosis
 Thalassemia
 Phenylketonuria
 Colour blindness
 Skeletal dysplasia
 Haemophilia
Sickle cell anemia

 This is a type of autosomal recessive genetic disorder.
 According to Mendelian genetics, its inheritance pattern follows
inheritance from two carrying parents.
 It is caused when the glutamic acid in the sixth position of the
beta-globin chain of the hemoglobin molecule is replaced by
valine. The mutant hemoglobin molecule undergoes a physical
change which changes the biconcave shape into the sickle shape.
 This reduces the oxygen-binding capacity of the hemoglobin
molecule.
Muscular dystrophy
A muscular dystrophy is a group of diseases that cause
progressive weakness and loss of muscle mass. In muscular
dystrophy, abnormal genes (mutations) interfere with the
production of proteins needed to form healthy muscle. There
are many kinds of muscular dystrophy
Cystic fibrosis
 This is an autosomal recessive disorder.
 This disease affects the lungs and the digestive system and the
body produces thick and sticky mucus that blocks the lungs and
pancreas.
 People suffering from this disorder have a very short life-span.
Thalassemia
 This is a type of disorder in which the body makes an abnormal
amount of hemoglobin. As a result, a large number of red blood
cells are destroyed which leads to anemia.
 It is an autosomal recessive disease.
 Facial bone deformities, abdominal swelling, and dark urine are
some of the symptoms of thalassemia.
 Phenylketonuria
 This genetic disorder is autosomal recessive in nature.
 It is an inborn error caused due to the decreased metabolism
level of the amino acid phenylalanine.
 In this disorder, the affected person does not have the enzyme
that converts phenylalanine to tyrosine. As a result,
phenylalanine accumulation takes place in the body and is
converted into many derivatives which result in mental
retardation.
 Colour blindness
 This genetic disorder is a sex-linked recessive disorder.’
 It is a defect in the red and green cone of the eye resulting in
the failure to discriminate between red and green colour
 This defect is due to mutation in certain genes present in the X-
chromosome.
 It occurs in about 8 percent of males and only about 0.4 percent
of females.
Skeletal dysplasia
skeletal dysplasia describes a category of rare genetic
disorders that affect bones and joints and hinder children's
growth and development. The disorder causes abnormally
shaped bones, especially in the head, spine and long bones of
the arms and legs.
 Haemophilia
This is a type of sex-linked recessive disorder.
According to the genetic inheritance pattern,
the unaffected carrier mother passes on the
hemophilic genes to sons.
 It is a very rare type of disease among females
because for a female to get the disease, the
mother should either be hemophilic or a
carrier but the father should be hemophilic.
 This is a disorder in which blood doesn’t clot
normally as the protein which helps in the
clotting of blood is affected. Therefore, a
person suffering from this disease usually has
symptoms of unexplained and excessive
bleeding from cuts or injuries.
 This type of genetic disorder is caused when
the affected gene is located on the X
chromosomes. Therefore, males are more
frequently affected

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DRAFT

What is pedigree analysis?

TYPES OF MENDELIAN DISORDERS-

Examples of Mendelian Disorders

 Sickle cell anemia

Sickle cell anemia

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