Genetic Diseases Genetic Diseases
Genetic DiseasesGenetic Diseases
A power . presentation from T.MADHAVAN, M.Sc., M.L.I.S., M.Ed., M. Phil. (FS), PG.D.C.A., Lecturer in Zoology.
Modern genetics: Genetic diseases.
EXITINDEX
Genetic DiseasesGenetic Diseases
SICKLE CELL ANAEMIA
THALASSEMIA
ALBINISM
AGAMMAGLOBULINEMIA
HUNTINGTON’S CHOREA
SCID [bubble boy syndrome]
A power . presentation from T.MADHAVAN, M.Sc., M.L.I.S., M.Ed., M. Phil. (FS), PG.D.C.A., Lecturer in Zoology.
Modern genetics: Genetic diseases.
EXITINDEX
Sickle-Cell Anaemia, also sickle-cell disease, hereditary
condition in which haemoglobin, is altered, leading to
periodic interruptions in blood circulation.
The RBC in which the altered haemoglobin is contained
also changes its shape, from round to crescent (sickle shaped).
The sickle-shaped red cells interfere with normal blood flow
by plugging up small blood vessels. The amount of oxygen
in the blood also reduced.
The disease is found predominantly in blacks; it also occurs
in the Middle East and the Mediterranean area.
A power . presentation from T.MADHAVAN, M.Sc., M.L.I.S., M.Ed., M. Phil. (FS), PG.D.C.A., Lecturer in Zoology.
Modern genetics: Genetic diseases.
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The patients dies due to damaged heart, kidney, spleen, brain as a result of clogged blood vessels or vascular obstruction.
Symptoms: enlargement of the abdomen and heart, painful swelling of the hands and feet. In adolescence, sexual maturation may be delayed. The affected people exposed to infections and leg ulcers.
Sickle-Cell AnaemiaSickle-Cell Anaemia
A power . presentation from T.MADHAVAN, M.Sc., M.L.I.S., M.Ed., M. Phil. (FS), PG.D.C.A., Lecturer in Zoology.
Modern genetics: Genetic diseases.
EXITINDEX
Sickle-cell anaemia occurs when an individual inherits autosomal mutant allele Hbs from each parent.
The persons with the genotype HbSHbS suffer with Fatal haemolytic Anaemia
In homozygous condition (HbS HbS) it causes production of abnormal haemoglobin S.
The normal haemoglobin is HbA (HbAHbA)
Persons with heterozygous genotype HbAHbS are said to be carrier and they survive.
Sickle-Cell AnaemiaSickle-Cell Anaemia
A power . presentation from T.MADHAVAN, M.Sc., M.L.I.S., M.Ed., M. Phil. (FS), PG.D.C.A., Lecturer in Zoology.
Modern genetics: Genetic diseases.
EXITINDEX
SICKLE CELL ANAEMIA
• Haemoglobin is composed of iron and protein.
• Aminoacids are arranged in four polypaptide chains.
• They are two identical alpha chains and beta chains.
• The glutamicacid in the beta chain of haemoglobin is replaced by valine aminoacid leads to sickle cell anaemia.
• As a result the normal shape of the haemoglobin is changed in to sickle shape.
A power . presentation from T.MADHAVAN, M.Sc., M.L.I.S., M.Ed., M. Phil. (FS), PG.D.C.A., Lecturer in Zoology.
Modern genetics: Genetic diseases.
EXITINDEX
This is an erythroblastic anaemia due to homozygous recessive gene expression in children.
It is an inherited form of anaemia in which there is reduced synthesis of one or more of the four globin chains, usually 2α
and 2β which make up haemoglobin in RBCs.
The word “thalassemia” is derived from the Greek word for “sea”; the disease was called this because it is more common in Mediterranean origin. However, the disorder is found worldwide.
A power . presentation from T.MADHAVAN, M.Sc., M.L.I.S., M.Ed., M. Phil. (FS), PG.D.C.A., Lecturer in Zoology.
Modern genetics: Genetic diseases.
EXITINDEX
the main forms in adults being broadly characterized as a- or ß-thalassaemias according to whether the
genes for the a or the ß chain are abnormal.
Types of Thalassaemia:i. Thalassemia Major – Homozygous – severe form ii. Thalassemia Minor – Heterozygous – milder form
Thalassemia
A power . presentation from T.MADHAVAN, M.Sc., M.L.I.S., M.Ed., M. Phil. (FS), PG.D.C.A., Lecturer in Zoology.
Modern genetics: Genetic diseases.
EXITINDEX
Thalassemia
Normal RBC Thalassemic RBC
Clinical manifestations:
Decrease in the bone marrow activity
Splenomegaly (enlarged spleen)Hepatomegaly (enlarged liver)
Peripheral haemolysis
A power . presentation from T.MADHAVAN, M.Sc., M.L.I.S., M.Ed., M. Phil. (FS), PG.D.C.A., Lecturer in Zoology.
Modern genetics: Genetic diseases.
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People who suffer from an unusual deficiency of gamma globulin known as
agammaglobulinemiaagammaglobulinemia.
Patients are deficient in antibodies and may require periodic infusions of gamma
globulin to maintain the immune system
A power . presentation from T.MADHAVAN, M.Sc., M.L.I.S., M.Ed., M. Phil. (FS), PG.D.C.A., Lecturer in Zoology.
Modern genetics: Genetic diseases.
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agammaglobulinemia is a recessive gene disease wherein -globulin synthesis fails to occur.
Patient shows great deficiency or total absence of plasma cells and unusual lymph nodes.
The failure of antibody synthesis leads to viral and bacterial infections especially of the chest. This disease mostly affect boys.
agammaglobulinemiaagammaglobulinemia.
A power . presentation from T.MADHAVAN, M.Sc., M.L.I.S., M.Ed., M. Phil. (FS), PG.D.C.A., Lecturer in Zoology.
Modern genetics: Genetic diseases.
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Genes undergo mutation that do not produce particular enzymes for metabolic pathways.
In Phenylalanine metabolism, a chain of enzyme mediated reactions occur.
Change or absence of this enzyme is due to defective gene results in physiological abnormalities.
Albinism
Albinism is an inherited disorder of melanin metabolism leads to absence of melanin in the skin, hairs and eyes.
Clinical characteristics:milk white colored skin and marked photophobia.
A power . presentation from T.MADHAVAN, M.Sc., M.L.I.S., M.Ed., M. Phil. (FS), PG.D.C.A., Lecturer in Zoology.
Modern genetics: Genetic diseases.
EXITINDEX
A power . presentation from T.MADHAVAN, M.Sc., M.L.I.S., M.Ed., M. Phil. (FS), PG.D.C.A., Lecturer in Zoology.
Modern genetics: Genetic diseases.
EXITINDEX
Recessive genes ‘aa’ do not produce the Tyrosinase enzyme which converts DOPA (3,4- Dihydroxy- phenylalanine) into melanin.
Types of albinism:1) Total albinism: melanin pigment is completely absent
in whole body
2) Localized albinism: melanin pigment absent in eye
[ocular albinism]
3) Partial albinism: melanin absent in skin hair
In albinism complete lack of melanin pigment causes albino to suffer- Ratio of the sufferer is 1:5000, 1:25000.
Albinism
A power . presentation from T.MADHAVAN, M.Sc., M.L.I.S., M.Ed., M. Phil. (FS), PG.D.C.A., Lecturer in Zoology.
Modern genetics: Genetic diseases.
EXITINDEX
HUNTINGTON’s CHOREA
Chorea (Greek, choreia, ”dance”), a clinical manifestation of certain diseases, characterized by involuntary, purposeless,
spasmodic movements in the entire body.
Chorea is most commonly associated with Huntington's disease (also known as Huntington's chorea)
Huntington’s disease affects the cerebral cortex which of the brain controls thought, perception, memory, and other
complex functions.
Huntington’s disease also affects other areas of the brain involved in movement and coordination.
A power . presentation from T.MADHAVAN, M.Sc., M.L.I.S., M.Ed., M. Phil. (FS), PG.D.C.A., Lecturer in Zoology.
Modern genetics: Genetic diseases.
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SymptomSymptom: uncontrolled jerking of the body is due to involuntary twitching of voluntary muscles.
Progressive degeneration of Central nervous system.Gradual mental and physical deterioration.
Deterioration of intellectual faculty, depression, occasional hallucination and delusions and other psychological problems.
This is incurable.
Huntington's choreaHuntington's chorea is caused by autosomal dominant gene located on 4th chromosome – occur at the age
between 35 and 40 years.
HUNTINGTON’s CHOREA
A power . presentation from T.MADHAVAN, M.Sc., M.L.I.S., M.Ed., M. Phil. (FS), PG.D.C.A., Lecturer in Zoology.
Modern genetics: Genetic diseases.
EXITINDEX
Symptoms:Symptoms: Lack of Immune defense mechanism against infection due
to rapid death of WBC. The affected child is kept in a sterile bubble. Unless given bone marrow transplant, the life span of the
child is short.
Severe Combined Immuno Deficiency [bubble boy syndrome]
It is inherited disease affecting children.
gene for this disease called ADA (Adenine Deaminase) is
located in the 20th chromosome.
A power . presentation from T.MADHAVAN, M.Sc., M.L.I.S., M.Ed., M. Phil. (FS), PG.D.C.A., Lecturer in Zoology.
Modern genetics: Genetic diseases.
EXITINDEX
Severe Combined Immuno Deficiency [bubble boy syndrome]
The most dangerous group of immune deficiencies resulting from B- and T-lymphocyte malfunction is severe combined immunodeficiency (SCID).
Within 3 to 12 months after birth, infants with SCID develop recurrent bacterial, viral, or fungal infections.
About 30 percent of these infants suffer from an enzyme deficiency known as adenosine deaminase (ADA) deficiency.
In the absence of adenosine deaminase, T- lymphocytes cannot develop normally.
A power . presentation from T.MADHAVAN, M.Sc., M.L.I.S., M.Ed., M. Phil. (FS), PG.D.C.A., Lecturer in Zoology.
Modern genetics: Genetic diseases.
EXITINDEX
A power . presentation from T.MADHAVAN, M.Sc., M.L.I.S., M.Ed., M. Phil. (FS), PG.D.C.A., Lecturer in Zoology.
Modern genetics: Genetic diseases.
EXITINDEX
Phenyl Alanine
Tissue protein Dietry protein
Phenyl Pyruvate
Tyrosine
Phenyl Ketonuria
3,4,dihydroxy phenyl alanine
Adrenaline and Non adrenaline
melanine
Thyroxine
Goitre & cretinism
Hydroxy phenyl pyruvate
Homo genetisic acid
Maley lacto acetic acid
Fumaryl aceto aceticacid
Fumaric acid and acetoaceticacid
albinism
Tyrosinosis
Alkaptunuria
A power . presentation from T.MADHAVAN, M.Sc., M.L.I.S., M.Ed., M. Phil. (FS), PG.D.C.A., Lecturer in Zoology.
Modern genetics: Genetic diseases.
EXITINDEX
PHENYLKETONURIA• The person with genotype pp fail to produce the phenyl alanine
hydraxylase enzyme.
• This enzyme converts the phenylalanine in to tyrosine.
• Metabolic block occur in this reaction due to lack of phenylalanine hydraxylase.
• So the phenylalanine concentration accumulates in the blood plasma, cerebrospinal fluid and urine.
• This syndrome causes mental deficiency , pigmented patches on the skin, excessive sweating , non pigmented hairs and eyes.
A power . presentation from T.MADHAVAN, M.Sc., M.L.I.S., M.Ed., M. Phil. (FS), PG.D.C.A., Lecturer in Zoology.
Modern genetics: Genetic diseases.
EXITINDEX
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