Genetic disorders can be caused by abnormalities in a single gene or multiple genes. Some key points: - Single gene disorders occur in 1 in 200 births and include sickle cell anemia caused by a mutation in the hemoglobin gene. - Multifactorial inheritance involves both genetic and environmental factors, accounting for 55% of genetic disorders like certain cancers. - Mitochondrial, chromosomal, and other types of genetic inheritance can also cause disease. - Common genetic disorders discussed include Down syndrome, Turner syndrome, and Klinefelter syndrome which are sex chromosome abnormalities.

1. GENETIC DISEASE
Dr . Sonia BajajDr . Sonia Bajaj
H.o.DH.o.D
Department of ZoologyDepartment of Zoology

2.  A genetic disorder is a genetic problem caused by one or more
abnormalities in an individual's genome, especially a condition that is
present from birth (congenital). Most genetic disorders are quite rare and
affect one person in every several thousands or millions.
 The human genome is the entire "treasury of human inheritance." The
sequence of the human genome obtained by the Human Genome
Project, completed in April 2003, provides the first holistic view of our
genetic heritage.
 Gene - The basic unit of heredity.
 Genome-Total genetic information encoded in a cell.

3.  Single gene inheritance
 Single gene inheritance, also called Mendelian or
monogenetic inheritance. This type of inheritance is
caused by changes or mutations that occur in the
DNA sequence of a single gene. which occur in about
1 out of every 200 births. 30%
 Ex-Sickle cell anemia
Types

4.  Multifactorial inheritance-
 It is also called complex or polygenic inheritance. Multifactorial
inheritance disorders are caused by a combination of environmental
factors and mutations in multiple genes. 55%
 Ex-Cancer

5.  Mitochondrial inheritance
 This type of genetic disorder is caused by mutations in the non-
nuclear DNA of mitochondria. Mitochondria are small round or rod-
like organelles that are involved in cellular respiration and found in
the cytoplasm of plant and animal cells.
 Ex-an eye disease called Leber's

6.  Chromosome abnormalities
 Chromosomes, distinct structures made up of DNA and protein, are
located in the nucleus of each cell. Because chromosomes are the
carriers of the genetic material, abnormalities in chromosome
number or structure can result in disease. Abnormalities in
chromosomes typically occur due to a problem with cell
division.15%
 Down syndrome,(47)Turner syndrome, (45,X0), &Klinefelter
Syndrome(47, XXY)

7.  Blood- Blood is a connective tissue(composition-
Protein,bilrubin,CBH,fat,ions,vita,hormone&enzyme)
Total volume of blood in body=6 litres
Taste is salty, PH
alkaline
 Blood contains a fluid=Plasma+Cellular elements
 Plasma=Water+Proteins (albumin, globulin & fibrinogen)
 Cellular elements=RBC+WBC+Platlets
 RBC=circular shaped,biconcave,absent nucleus, respiratory
pigment(Haemoglobin), 4.0 to 5.1 millions per cubic millimeter in
female & life span 120days.

8.  The red colour of RBC is due to pigments.
Fun-Transport of o2&co2.
Haemoglobin=Haem + Globin
(Iron+Protein)
 WBC=Colourless & contaning a nucleus, & life span 1-4days.
Fun-Protection against infection
 Platlets=Spherical or oval shaped,not have a nucleus, Life span 24
to 48 Hour.(only-Mammal)
Fun-Blood clotting

9.  Anaemia-It is the disease involving deficiency in the number of RBC’s
or deficiency of haemoglobin .because of any one of these
deficiencies ,there is a decrease in the oxygen carrying capacity of
blood.
 Type-
 1 Iron deficiency anaemia- Deficiency Iron(low dietary intake)
 2 Megaloblastic anaemia- Immature large sized red blood cells
called “Megaloblast” (Deficiency of Vit- B12 Or Folic acid)

10.  3 Haemolytic anaemia-I
 Increased destruction of RBC(hereditary disorders, infection like
malaria)
 4 Aplastic anaemia-
 It occurs due to suppression of bone marrow. (Caused by –
drugs,chemicals,radiation)

11.  Sickle cell anemia is an autosomal hereditary disorder in which the
erythrocytes ( red blood corpuscles) become sickle shaped under
oxygen deficiency . Normal RBC lives for 120 days, sickle-shaped
cells live only 10 to 20 days.

12.  Sickle cell anemia may injure the body parts, especially the
bones , central nervous system, lungs, liver and spleen. Some
of the effects are: infections, jaundice, complications during
pregnancy, leg ulcers and other complications.

14.  Shortness of Breath
 Sudden Pain in Body
 Headaches
 Coldness In Hand & Feet
 Skin Gets Paler Than Normal Skin
 Feeling Tired Mostly
 Worse With Physical Activities
 Enlarged Spleen Causes Pain In Abdomin
SYMPTOMS

15.  Gene for sickle celled erythrocytes is represented as HbS
while the
normal erythrocytes is written as HbA
 Normal person’s erythrocytes are written as HbA
HbA
 Two types of sickle cell disease is found:
1. Sickle cell trait -
HbA
HbS
(carrier)
2. Sickle cell disease-
HbS
HbS
(diseased)

16. HOW SICKLE CELL ANEMIA INHERITS ?

17.  Bone marrow transplant
 Blood transfusion
 Gene Therapy
TREATMENT

18.  Cancer –
 A large group of diseases characterized by the uncontrolled growth
and spread of abnormal cells
 Neoplasm – new growth of tissue that serves no physiological
function
 Tumor – clumping of neoplasmic cells
 Metastasis – malignant tumors that are not enclosed in a protective
capsule have the ability to spread to other organs

19. Benign – noncancerous , Malignant – cancerous,

22. Classification of cancers-
 Carcinomas-Epithilial call
 Sarcomas-Connective tissues
 Lymphomas-Lymphocytes abnormal
 Leukemias-WBC abnormal
TYPES OF CANCERS

23.  External Factors – chemicals, radiation, viruses, and lifestyle
 Internal Factors – hormones, immune conditions, and inherited
mutations
 Stress has been implicated in increased susceptibility to several
types of cancers
 Sleep disturbances, diet, or a combination of factors may weaken
the body’s immune system
 Herbicides/pesticides
WHAT CAUSES CANCER

24. Figure 16.2
FACTORS BELIEVED TO CONTRIBUTE TO GLOBAL
CAUSES OF CANCER

25. Characteristics of Cancer Cells-
Insensitivity to growth
Self-sufficiency in growth signals
Evasion of programmed cell death
Limitless replication potential

26.  Symptoms: persistent cough, blood-streaked sputum, chest pain
 Treatment: surgery, radiation therapy, and chemotherapy
 Prevention: avoid smoking and environmental tobacco smoke
LUNG CANCER

27.  1 out of 8 women will develop breast cancer (lifetime risk)
 Detection: mammograms, regular breast self-exams
 Symptoms: lump in the breast, thickening, dimpling, skin
irritation, distortion or tenderness
 Risk factors: family history, hyperplasia, long menstrual history,
obesity after menopause, oral contraceptives
 Treatment: lumpectomy, radical mastectomy, radiation,
chemotherapy
 Prevention: exercise
BREAST CANCER

28.  Risk factors: over 50 years old, obese, family history of colon or
rectum cancer or polyps, diets high in fats, low in fiber, smoking,
high alcohol consumption, lack of exercise
 90% of colorectal cancers are preventable
 Treatment: radiation, surgery, and possible chemotherapy
 Prevention: regular exercise, a diet heavy in fruits and plant-origin
foods, a health weight, and moderation in alcohol consumption
COLON AND RECTAL CANCERS

29.  1 in 3 men will be diagnosed in their lifetime
 Prostate is a muscular, walnut-sized gland the surrounds part
of the urethra. Its primary function is to produce seminal
fluid.
 Symptoms: nonspecific, weak or interrupted urine flow,
difficulty starting or stopping urination
 Risk factors: age, race, nationality, family history, diet,
lifestyle, and vasectomy
 Prevention: diet high in lycopenes, vitamin E
PROSTATE CANCER

30.  Long term effects of sun exposure can result in skin
cancer
 Malignant melanoma, deadliest form of skin cancer
 Sun give off 3 types of harmful rays:
 UVA
 UVB
 UVC
 Prevention: limit exposure to harmful UV rays, drink
more fluids than usual, apply cool compresses to skin,
moisturize skin
SKIN CANCER

31.  Most common symptom is enlargement of the abdomen
 Risk factors include: family history, age, childbearing, cancer
history, fertility drugs, talc use in genital area, genetic
predisposition
 Prevention: diet high in vegetables and low in fat, exercise, sleep,
stress management, and weight control
OVARIAN CANCER

32.  Remove less surrounding tissue during surgery
 Combine surgery with radiation or chemotherapy
 Immunotherapy
 Cancer-fighting vaccines
 Gene therapy
 Neoadjuvant chemotherapy
 Stem cell research
NEW HOPE IN CANCER TREATMENTS

33.  Leber optic atrophy -
 Is a mitochondrially inherited (transmitted from mother to offspring)
degeneration of retinal ganglion cells (RGCs) and their axons that
leads to an acute or subacute loss of central vision
 higher in females (range 19–55) years than males (range 15–53)
years.
 The male to female ratio varies between mutations: 3:1 .

34.  Turner syndrome (TS)- 45,X, in (Female) or completely missing
an X-chromosome.
 Symptoms-a short and webbed neck, low-set ears.
 swollen hands and feet are seen at birth.
 Treatment-Growth hormone

35.  Klinefelter syndrome (KS) (47,XXY or XXY), is the set of symptoms
that result from two or more X chromosome in males. The primary
feature is sterility.
 Symptoms-They may have less muscle control and coordination
than other boys of their age.
 Treatment-Hormone therapy
 Down syndrome –( 47 chromosomes)
 Symptoms- a flat face, small ears, slanting eyes, and a small
mouth.
 Treatment-your child has regular medical checkups.

36. THANK YOUTHANK YOU