BMS19096202 – (GIM)

GIM RESIT ASSIGNMENT

Discuss inheritance and molecular basis of single gene and multifactorial

disorders with THREE suitable examples of each.

Discuss the various ways by which the immune response protects against
pathogens. In your answer briefly describe how the immune responses can
also cause damage.

Word count- 1114

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SINGLE GENE DISORDERS: caused by changes or mutations that occurs in DNA sequence of
one gene. If a gene is mutated, it’s protein products cannot performs it function resulting in single
gene disorders.
MENDELIAN INHERITANCE:
- Mendelian inheritance are those that follows the three mendelian laws (laws of
segregation, assortment, dominance)
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MENDELIAN Autosomal Autosomal X- linked dominant X- linked

INHERITANCE dominant recessive inheritance recessive
inheritance inheritance inheritance
TRAITS IN Trait is common in Trait is rare in Trait is common in Trait is rare
PEDIGREE pedigree pedigree pedigree in pedigree

GENERATION Trait is found in Traits often skips affected father Trait often
every generation generation passes to all skips
(hidden in generation generation
heterozygous
carriers)
OFFSPRING Only half of the Males and males and females males are
children is affected females are are equally affected most
(both males and equally affected affected and
females are affected) females act
as carrier
EXAMPLES -Marfan syndrome -Sickle cell -Incontinentia -hemophilia
-Achondroplasia anemia pigmenti -colour
-Huntington’s disease -Cystic fibrosis -X linked rickets blindness
-Tay sacs disease -hypophosphatemia

Y- linked recessive:
- Inheritance of genes on y chromosome (holandric inheritance)
- As only males have y chromosome, they are transmitted from father to son
- There are no currently known examples for this type of inheritance
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NON- MENDELIAN INHERITANCE: They do not follow the mendelian laws of inheritance

1. MITOCHONDRIAL INHERITANCE AND DISORDERS:

- Mitochondria has their own DNA (Mt DNA) containing 37 genes which are
transmitted only from mother to all her children.
- mutation rate is high
- The disorders caused by mutation in Mt DNA affects the tissues which require
high energy like CNS, heart, muscles and so they include encephalopathy,
myopathy, ataxia
- EG- Lieber’s Hereditary Optic Neuropathy (LHON) and MELAS (Mitochondrial
Encephalomyopathy Lactic acidosis and Stroke like Episodes)
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2. MOSAICISM:
- The condition in which cells within the body have different genetic makeup
- It affects any types of cell- blood/skin/gametes
- Caused by error in cell division early in the development of unborn baby
- EG) Down’s syndrome (mosaics of trisomy 21)
-gonadal mosaicism

3. GENOMIC IMPRINTING (GI):

- People inherit two copies of genes-one from mother and another from father.
Sometimes either of the gene is active
- In genes that undergo GI, the parent of the origin is often marked on the gene
during the formation of sperm or egg by methylation.
- This add or removal of methyl groups can be used to control the gene activity
- Imprinted genes cluster together in same regions of chromosome like p arm of
chromosome 11 or q arm of chromosome 15
- EG)- neonatal diabetes mellitus type 1
-silver Russell syndrome

MULTIFACTORIAL DISORDERS:
- Results from mutation of multiple genes and associated with environmental
factors
TYPE 2 DIABETES MELLITUS:
- GENETIC FACTORS:
o Locus on chromosome 2, 12, 20
- ENVIRONMENTAL FACTORS:
o Obesity, lack of exercise

IMMUNOLOGY
our body has a natural self defense mechanism called INNATE IMMUNITY which is the first line of
defense. That is, whenever any foreign bodies enter the human body, innate immunity will come into
action. When the innate immunity alone cannot handle the foreign body/ antigen, adaptive immunity
mechanism get activated.
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INNATE IMMUNITY ADAPTIVE IMMUNITY

Lacks specificity Specific to the antigens
Cannot discriminate between Discriminate between self and
self and non- self cells non-self cells
Poor memory Memory ( can initiate the
heighten immune response
during the second encounter)
mCannot be enhanced Can be enhanced
Also called natural/ native Also called specific/ humoral
immunity immunity
Cells involved are- neutrophils, Mainly lymphocytes (B cells,
macrophages, NK cells T cells)

INNATE IMMUNITY:
- The first line of defenses include, physical barriers, chemical barriers, and
biological barriers
- physical barrier includes the mucous lining (traps the foreign agent), cilia (expels
the foreign agent), skin,
- chemical barriers include the lysozyme (enzyme in tears and saliva which
ruptures the bacterial cell wall), acidic PH of the stomach (HCl secretion kills the
foreign agent in the gut)
- biological barrier includes the natural fauna
- cells involved in this immunity is Neutrophils (the first cell to visit the site of
injury/ inflammation/ foreign body visit), macrophages (phagocytosis), NK cells(
identify and destruct the infected/ tumor cells)
- NK cells (enzymes and secretions in the written format)
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HUMORAL CELL MEDIATED

IMMUNITY IMMUNITY
ACTIVE CELLS B cells and produced from active cell is T cells.
bone marrow, undergoes (formed from bone
maturation and enters marrow and mature at
secondary lymphoid thymus)
organs (spleen,
lymphnode)

ACTIVATION Antigen binds to B Recognition and binding

lymphocytes surface of TCR to MHC -antigen
receptors and peptide complex of
ACTIVATES B cells antigen presenting cell
This activation also OR binding of
requires help of T helper TCRCD28 to B7 (ligand
cells ( produces the on antigen presenting
antibodies) cells) will activate t cells

PROLIFERATION The lymphocytes IL2 and cytokines

proliferate and produce triggers t cells to
identical cells (clonal proliferate
expansion)

DIFFERENTIATION Then they differentiate to differentiate to effector

plasma cells (produce cells[CD4+ (T helper
immunoglobulins) and cells, interacts with
memory cells peptide antigen and
MHC 2), CD8+ (
cytotoxic T cells,
interacts with peptide
antigen and MHC 1)]
and memory cells.
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CENTRAL TOLERANCE PERIPHERAL TOLERANCE

Functions It eliminates the auto reactive It eliminates the auto reactive
cells cells that escaped the central
tolerance
Location bone marrow and thymus Secondary lymphoid organs
Autoreactive T cells are Negative selection Deletion by apoptosis, anergy,
eliminated by suppression
Autoreactive B cells are Deletion, receptor editing Anergy, apoptosis
eliminated by

- If the auto reactive cells are in action, it is called as autoimmunity.

- Ex. Rheumatoid arthritis, multiple sclerosis.
- If the immune system produces intense reaction, it is called as hypersensitivity.

hypersensitivity Type 1 Type 2 Type 3 Type 4

types ( immediate type ( antigen- (soluble antigen- (delayed type
hypersensitivity) antibody antibody hypersensitivity)
binding) complex)
Immune IgE IgG / IgM IgG/ IgM T cells, cytotoxic
reactant T lymphocytes
Mechanism Mast cell and Phagocyte and Immune Macrophage and
basophil NK cell complexes, eosinophil
degranulation activation phagocyte, NK activation,
cells activation, cytotoxicity.
complement
fixation
Antigen form Soluble antigen Cell bound Soluble antigen Soluble/ cell
antigen bound antigen
Examples Anaphylaxis Hemolytic Rheumatoid Multiple sclerosis
disease of arthritis
newborn
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REFERENCES:
- Cellular and molecular Immunology by Abul K. Abbas
- Medical microbiology and immunology by Levinson
- Basics and clinical immunology by Daniel sties
- Medical genetics by Jorde Carey Bamshad
- Emery’s element of medical genetics by muller and young