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HEALTH AND DISEASE
9
INTRODUCTION A good health is a healthy body with a healthy mind
and healthy attitude.
Anything that disturbs the proper functioning of cells, Health is a state of complete physical, mental and
tissues and organs will result in the lack of proper social well being, and not merely an absence of
activity of the body or unhealthy body. Thus, health disease or infirmity (W.H.O - 1948). Any change
is considered to be the state of perfect functioning of from the normal state that causes discomfort or
body and mind, unhindered by diseases. disability or impairs the health is called as disease.
Disease
Congenital Aquired
Handy Facts
Father of Medicine : Hippocrates. He gave scientific explanation of disease first time.
Father of Surgery: Susruta. He used non-poisonous leeches as an anticoagulant during surgery.
Father of Ayurveda : Charaka (Ayu Life, Veda Knowledge). He first gave concept of diges-
tive, metabolism and immunity.
Father of Modern Pathology : Rudolf Virchow.
Father of Immunity : Edward Jenner (Small pox vaccine).
Father of Blood grouping : C. Landsteiner.
Father of Modern Bacteriology : Robert Koch (Anthrax, T.B., Cholera)
Nobel Prize for odourent receptor (olfaction) is given to Richard Axel and Linda B.Buck.
World health day 7th April.
Laveran (1880) discovered malarial parasite in blood of malaria patient.
Pfeiffer (1892) proposed that malaria is spread by blood sucking insect.
Discovery of Plasmodium and its transmission by Anopheles (female) was confirmed by Ronald
Ross (1897).
Immunology is the science of development of immunity against particular pathogen.
The foundations of science of immunology were discovered by workers-Edward Jenner (1796),
Louis Pasteur (1879) and Von Behring (1841).
Edward Jenner (1796) He gave the term vaccination for this process.
Louis Pasteur: He discovered the process of inactivating the pathogen & prepared vaccines for an-
thrax, cholera, rabies.
Von Behring : Von Behring is known as Father of passive immunization.
Communicable Disease
Depending upon the type of causative agent communicable disease are the following types - bacterial,
viral, rickettsial, spirochaetal, protozoan, fungal and helminthes etc.
Table : Bacterial Diseases in Human
S. No. Disease Pathogen Main Symptoms
1. Cholera Comma shaped -Vibrio comma Severe diarrhoea and vomiting
(Haiza) (V.cholerae)
2. Pneumonia Diplococcus or Streptococcus Sudden chill, chest pain, difficulty in
pneumoniae breathing
3. Typhoid Rod like motile Salmonella typhi Constant fever
4. Tetanus (Lockjaw) Clostridium tetani Painful muscular spasms and paralysis
5. Diphtheria Corynebacterium diphtheriae Sore throat, difficulty in breathing
(gram + ve)
6. Whooping cough Bordetella pertussis or Severe coughing, characteristic gasping
(pertussis) Haemophilus pertussis whoop
7. Tubercuslosis Mycobacterium tuberculosis (rod Cough, bloody sputum, chest pain, loss
shaped).. of weight
8. Plague (Also called Pasteurella pestis Painful pubo of lymph nodes
black death)
9. Leprosy Mycobacterium leprae Hypopigmented skin patches, ulcers,
(Discovered by deformity of digits
Hansen)
10. Syphilis Treponema pallidium Lesions, ulcers on genitalia
11. Gonorrhoea Neisseria gonorrhoeae Burning sensation in micturition
12. Diarrhoeal diseases Shigella dysenteriae, Salmonella, Food poisoning abdominal cramps,
Escherichia coli, Campylobacter diarrhoea.
Health and Disease C-143
Viral Diseases
Viral diseases are transmitted by contact fomite and droplet method. Types of viral disease are-influen-
za, small pox, etc.
Table : Viral Diseases in Humans
S.No. Disease Pathogen Main Symptoms
1. Influenza Myxovirus Nasal discharge, sneezing, coughing, fever,
(Flu) Influenzae body ache
2. Smallpox (highly Variola virus Skin rash changing to pustules, then to scabs
contagious disease)
3. Chicken pox Varicella zoster Skin sores that open & emit fluid
(DNA virus)
4. Measles Rubella virus Fever, inflammation of nasal mucous membrane,
loss of appetite. Red watery eyes, skin rash
5. Rabies (Hydrophobia) Rabies virus Biting behaviour, fear of water, inability to
swallow. Severe headache.
6. Mumps (Infectious Paramyxo virus Painful enlargement of parotid glands, diffi-
parotitis) culty in opening mouth
7. Poliomyelitis (polio) Polio virus Inflammation of nervous system, muscle
(Highly infectious disease shrinkage, limb paralysis
of infants and childrens)
8. Trachoma Chlamydia Granules on inner surface of eyelids, watery
trachomatis eyes
9. Dengue Arbo virus (RNA) Mild conjunctivitis, high fever, backache,
nausea vomiting etc.
10. Yellow fever Arbo virus Headache, vomiting, fever, rupture of veins in
kidney, spleen, liver etc.
11. Hepatitis (Epidemic Infectious & serum Jaundice due to damaged liver cells
jaundice) hepatitis viruses
(A, B, C, D & E)
Hepatitis A (also called A virus Hepatic anorexia
catarrhal jaundice) resulting in liver damage
Hepatitis B B virus Swelling of liver cells
Hepatitis C C-virus
Protozoan disease
Disease Causative agent Symptom
1 Malaria Plasmodium (female It results in anaemia, toxaenia and splenomegaly.
anopheles as vector) Antimalarial drugs are quinine, chloroquine etc.
Dalaprim drug kills the parasitic stages present in
both liver cells and RBCs of blood.
2 Amoebiasis Entamoeba histolytica It is characterized by abdominal pain alternating
diarrhoea and constipation etc Entamoeba secretes
cytolysin that erodes the mucous membrane of intestine.
3 Giardiasis (Black Giardia intestinalis Infection is transmitted by contamination of cysts with
Peppers diseases) food and drinks. It is characterized by mild diarrhoea.
4 Kalazar (dum-dum Leishmania (Sand fly It is characterized by fever and enlargement of visceral
fever) as vector) donovani organs.
5 Ciliary dysentery Balantidum coli It causes ulcers in the colon and invades mucous
(Balantidlasis) membrane by secreting an enzyme hyalurodinase.
Thus generally results in diarrhoea. Tetracycline or
lodoquinol are effective treatment.
6 Tryanosomiasis Trypanoma It is characterized by high fever, swelling of neck and
armpit, weakness, anaemia, lethargy, unconsciousness
etc.
Gambian fever T. gambiense
East african sleeping T. Rhodesiense
sickness T.Cruzi (spread by
Chagas south american panstrongilus sp)
sleeping sickness.
Helminthus diseases
Filariasis or Wucheria bancrofti Symptoms include fever, proliferation of endothelial
Elephantiasis (Aedes mosquito or cells and deposition of metabolites in the wall of
culex as vector) lymph vessels.
Taeniasis Taenia solium It is characterized by abdominal pain, indigestion, loss
of appetite, nausea etc.
Cysticercosis larva of Taenia causes cysticercosis which
causes damage to different body parts, blindness etc.
Ascariasis Ascaris lumbricoides It is characterized by colic pain, indigestion, diarrhoea,
(flies and cockroaches vomiting, weakness etc.
as vector) Scratch test, dermal test and stool test can be done to
detect the round worm infection.
Enterobiasis or Enteriopius It causes anal itching, appendicitis, nervous problem.
Oxyuris vermicularis
Ancyclostomiasis Ancylostoma Symptoms include chronic blood loss, depletion of
duodenae bodys iron stores leading to anaemia, inflammation
of skin etc.
Schist osomiasis Schistosoma It is found in urinary bladder, blood vessels and causes
haematobium itching, rashes, aches, fever etc.
(Snail as Vector)
Health and Disease C-145
Arthritis
HIV is transmitted through body fluids by- Viral load test measures the amount of virus in
Sexual contact (most common mode of trans- the blood which will help in determining the
mission) (Probability < 1 %), blood contact probable progression of the disease.
(100%), and By mother to child by placenta
(33%), By mother milk Treatment
Drugs used are -
HIV is not transmitted through - ordinary con-
AZT (Azidothymidine) or Zidowdine
tact (hugging, dancing, talking, touching etc.)
with someone who has HIV or AIDS; sweat, DDI (Dideoxyinosine)
tears or saliva etc. The major cell affected by Foscarnet
HIV is the helper-T-lymphocyte. These drugs inhibit the enzyme of HIV.
Highly active antiretroviral therapy (HAART)
The HIV virus multiplies and slowly begins to
is a combination of three or more antiretrovi-
destroy the CD4 lymphocyte (T cells or helper
T-cells) ral agents (called triple therapy or HAART),
which has been highly effective in reducing the
AIDS was first recognised in Hatai (USA) in
number of HIV particles in the blood stream
1981 among a group of young homosexuals
and as a result increase the CD4 count.
who were addicts of heroin and other narcotics.
AIDS includes 3 phases-
(i) Asymptomatic phase - Initially within
IMMUNE SYSTEM
2-12 weeks there is no antibody produc- System which protect the body from disease is
tion so infectivity of patients or active- called immune system.
ness of virus is maximum in this period. The immune system consisting several organs
This period is called window period (No as well as WBC in blood and lymph has the job
specific symptom appear in this phase so of fighting off invading pathogens and prevent-
ELISA test is negative in window peri- ing growth and spread of cancers.
od.) Lymphoid organs are those organs where ori-
Low grade fever, body aches, sore throat. gin and maturation and proliferation of lym-
(ii) AIDS related complex (A.R.C.) - 3 to 6 phocyte occur.
weeks The primary lymphoid organs are bone mar-
It is characterized by Diarrhoea, Weight
row and thymus.
loss (> 1 0%), Cough, Generalised
Bone marrow manufactures the billions of
lymphadenopathy and Fever.
WBC needed by the body every day. Some
(iii) Full blown AIDS In this patient become
newly produced WBC remain in the bone mar-
fully immune deficient and T-Iympho-
cytes or CD4 count is less than 200 106 row to mature and specialize and while others
/ litre. travel to the thymus to mature.
Secondary lymphoid organs includes lym-
Investigation phnodes adenoids tonsils, spleen, peyers
patches (within intestine) and the appendix.
Screening test is Enzyme Linked Immuno sor-
bent assay (E.L.I.S.A.) . Acquired Immunity
Confirmatory tests : Western blot test Detects
antibodies (proteins) in patients serum. It is the resistance that an individual acquires
ELISA is a technique which can detect and during life. This is generated in response to an
even quantitate extremely small amount of a exposure to the micro-oganism in question.
protein, antibodies or antigens with the help This type of immunity is founds only in ver-
of enzymes. The commonly used enzymes are tebrates. It is also called adaptive or specific
peroxidases and alkaline phosphatase. immunity. This immunity is aquired after birth
Western blot test is the culturing of blood and by experience and recognises and selectively
testing plasma for virus. eliminate the pathogen.
C-148 Biology
Features of acquired immunity are: Specificity Venom (poison): Toxic substances secreted by
and Diversity snake and some insect.
Interferons (discovered by Issacs and Linder-
Some terms related to immune system
mann) are produced against viral infection.
are The complement system plays an important
Immunity: Resistance of the body against a role in host defence against infectious agents
pathogen or disease. and in the inflammatory response.
Antigen or Agglutinogen : Proteinous sub-
stance which stimulates the production of Body temperature rise causes fever, fever is
antibodies. caused by the release of chemical called pyro-
Antibody: It is a complex glycoprotein se- gen from damaged tissues.
Interferons (discovered by Issacs and Linder-
creted by B-lymphocytes in response to an
mann) are produced against viral infection.
antigen. It is also called agglutinin.
The complement system plays an important
Antiserum: Serum of any animal which con- role in host defence against infectious agents
tains the antibody for a specific antigen. and in the inflammatory response.
Streptomycin Streptomyces griseus Active against acid-fast and gram-negative Waksman (1942)
bacilli, cuu pulmonary tuberculosis
Discrimination between self and non- memory of this encounter remain in im-
self : It can recognise self (body or tissue) mune system.
and non self (foreign tissue) and respond When this pathogen enters second time inside the
according to them. body, body immune system rapidly recognise this
Memory: When a pathogen enter inside pathogen and respond quickly to it. This is called
the body, body takes longer times to rec- secondary immune response. This is based on
ognise and respond to it. This is called memory of immune system.
primary immune response but the
Health and Disease C-149
Aquired immunity
Vaccines
DRUGS AND ALCOHOL ABUSE that this behaviour interferes with the alcohol-
ics normal personal, family, social life.
Drug abuse is defined as self administration
Alcohol decreases the activity of CNS thereby
of a drug for nonmedical reasons. Abused drug
include anabolic steroids, analgesics and anti- reducing anxiety, tensions and inhibitions.
biotics. Alcohol decreases the secretion of ADH from
Drugs are classified on the basis of their mode posterior pituitary gland causing increased
of action on brain into two categories- urine output.
Psychoactive or psychotropic drugs In the liver, alcohol is converted into a more
Psychedelic or hallucinogenic drugs. toxic substance acetaldehyde which is used for
Psychoactive drugs are also called as mood energy by the cells.
altering or neurological drugs. Liver synthesizes fat from the alcohol, the ex-
Psychedelic drugs produce psychological ef- tra fat decreases the production of enzymes and
fects like illusious and hallucinations. structural proteins.
Four categories of psychoactive drugs are- The accumulation of fats results in fatty liver
sedative and tranquillizers, opiate narcotics; syndrome, leading to cirrhosis (replacement of
stimulants and hallucinogens. liver cells by fibrous tissue)
Alcoholism is the consumption of or preoccu- Alcohol addiction lowers blood sugar levels,
pation with alcoholic beverages to the extent adversely affecting the brain.
C-152 Biology
Tobacco is the dried leaves of the plant Nico- One of the common cancer attributed to ciga-
tiana tabacum and N. rustica. rette smoking is lung cancer.
Nicotine is the substance that causes addiction the withdrawal symptoms include irritability,
to tobacco. anxiety, craving, sleep problems, headache and
Nicotine is highly poisonous, nicotine present lethargy. It may continue for 4-6 weeks and
craving may continue for many months.
in a cigarette is sufficient to kill a person if in-
Some of the important measures for the pre-
fection intravenously. vention and control of alcohol and drug abuse
Nicotine - stimulates passage of nerve impulse, among adolescents are as follows-
causes muscles to relax and causes increased (i) drug education and counselling program.
heart rate. (ii) Looking for danger signs.
Tobacco smoke contains carbon monoxide, (iii) Avoid undue peer pressure.
polycyclic aromatic hydrocarbons and tar. (iv) Seeking help from parents and peers.
The main harmful effects of smoking are respi- (v) Seeking professional and medical help.
ratory diseases and cardiovascular disease. (vi) Enforcing stronger laws and penalities.
Table : Categories of Psychotropic Drugs, their Effects and Clinical uses.
Type of drug Examples Effects Clinical Uses
Sedatives and Barbiturates Benzodiazepines Depress brain activity and produce Hypnotic,
tranquilizers (e.g., Valium) feelings of calmness, relaxation, antianxiety
(depressent) drowsiness and deep sleep (high
doses)
Opiate Opium, morphine, heroin, Suppress brain function, relieve Analgesic
narcotics pethidine, methadone intense pain (physical and mental),
produce temporary euphoria
Stimulants Caffeine (very mild), Stimulate the nervous system; make Weight control
amphetamines (including a person more wakeful, increase Neurotic
dexamphetamine), cocaine and alertness and activity, produce (Depressive)
its derivative, Novacaine excitement. disorder
Hallucinogens LSD, mescaline, psilocybin, Alter thought, feelings and None
charas, hashish, marijuana perceptions; hallucinations.
(bhang)
EXERCISE
1. Passive immunity was discovered by 3. The malignant tertian malaria is caused by
(a) Robert Koch (a) Plasmodium vivax
(b) L. Pasteur (b) Plasmodium falciparum
(c) Edward Jenner (c) Plasmodium ovale
(d) Eemil Von Behring (d) Plasmodium malaria
2. The term antibiotic was coined by 4. Black death is related with
(a) Alexander fleming (a) plague
(b) Edward Jenner (b) cancer
(c) Louis Pasteur (c) tuberculosis
(d) Selman waksman (d) measles
Health and Disease C-153
18. Which Vector Spread the yellow fever disease? Select the correct answer by using the codes
(a) Musca sp (b) Anopheles sp given below:
(c) Culex sp (d) Aedes aegypti Codes:
19. Which of the following is an air-borne disease? (a) 2 and 4 (b) 1 and 2
(a) Tuberculosis (b) Cholera (c) 2 and 3 (d) 1 and 3
(c) Jaundice (d) Brain fever 27. Consider the following statements.
20. Which of the following is a communicable AIDS -is transmitted [CSAT 1996]
disease? 1. By sexual intercourse
(a) Phenylketoneuria (b) Cancer 2. By blood transfusion
(c) Rabies (d) Alkaptonuria 3. By mosquitoes and other blood sucking
21. Penicillin is a drug that can insects
4. Across the placenta
(a) interfere in the biological pathway of
(a) 1, 2 and 3 are correct
bacteria
(b) 1, 2 and 4 are correct
(b) an antibiotic that can kill bacteria
(c) 1, 3 and 4 are correct
(c) interfere in the biological pathways of (d) 1 and 3 are correct
virus 28. People drinking water from a shallow hand
(d) None of the above pump, are likely to suffer from all of the
22. Which of the following disease is confirmed by following diseases except [CSAT 1996]
widal test? (a) Cholera (b) Typhoid
(a) Tuberculosis (b) Typhoid (c) Jaundice (d) Fluorosis
(c) Plague (d) Tetanus 29. The major chemical compound found in kidney
23. Athletes Foot is a disease caused by stones is : [CSAT 1996]
[CSAT 2001] (a) urea (b) calcium carbonate
(a) Bacteria (b) Fungus (c) calcium oxalate (d) calcium sulphate
(c) Protozoan (d) Nematode 30. List- I List-II [CSAT 1997]
24. It begins as a single cell and grows into a A. Malaria 1. Bone marrow
merciless disease that claims millions of lives B. Filaria 2. Brain
year after year. But scientists are steadily C. Encephalitis 3. Muscle
unlocking its mysteries and the fight against it, D. Leukaemia 4. Lymph node
may now have reached a dramatic turning point. 5. Blood cells
New discoveries promise better therapies and (a) A 5; B 3; C 2; D 1
hope in the war against..... The disease referred (b) A 5; B 4; C 2; D 1
to in the above quotation is [CSAT 1995] (c) A 4; B 3; C 5; D 1
(a) Cancer (d) A 5; B 4; C 1; D 2
31. Antigen is a substance which [CSAT 1997]
(b) AIDS
(a) lowers body temperatures
(c) Tuberculosis
(b) destroys harmful bacteria
(d) Alzheimers disease
(c) triggers the immune system
25. According to the World Health Organisation (d) is used as an antidote to poison
(WHO), the disease which causes the death of 32. List- I List-II [CSAT 1998]
the largest number of people today is
(Disease) (Organism)
[CSAT 1996]
A. Malaria 1. Fungi
(a) AIDS (b) Tuberculosis
B. Poliomyelitis 2. Bacteria
(c) Malaria (d) Ebola
26. Which of the following are associated with C. Tuberculosis 3. Virus
Diabetes mellitus, a common disease in adults ? D. Ringworm 4. Protozoan
1. Higher sugar level in blood [CSAT 1996] (a) A-4; B-3; C-2; D-1
2. Lower sugar level in blood (b) A-4; B-3; C-1; D-2
3. Lower insulin level in blood (c) A-3; B-4; C-1; D-2
4. Higher insulin level in blood (d) A-3; B-4; C-2; D-1
Health and Disease C-155
33. Haemophilia is a genetic disorder which leads 2. Retro-orbital pain is not a symptom of
to [CSAT 1998] dengue.
(a) decrease in haemoglobin level 3. Skin rash and bleeding from nose and
(b) rheumatic heart disease gums are some of the symptoms of dengue.
(c) decrease in WBC Which of the statements given above is/are
(d) non-clotting of blood correct?
34. List- I List-II [CSAT 1999] (a) 1 and 2 (b) 3 only
A. Atropine 1. Local anaesthesia (c) 2 only (d) 1 and 3
B. Ether 2. Heart trouble 39. Pneumoconiosis affects the workers who work
C. Nitroglycerine 3. Dilation of pupil mainly in [CSAT 2005]
D. Pyrethrin 4. Mosquito control (a) Tanneries
Codes : (b) Coal mining industry
(a) A 1; B 3; C 2; D 4 (c) Distillerie
(b) A 1; B 3; C 4; D 2 (d) Glass industry
(c) A 3; B 1; C 4; D 2 40. Assertion (A) : The person with Diabetes
(d) A 3; B 1; C 2; D 4 insipidus feels thirsty.
35. List- I List-II [CSAT 2000] Reason (R) : A person with Diabetes insipidus
A. Haemophilia 1. Deficiency disease suffers from excess secretion of vasopressin.
B. Diabetes 2. Genetic disease [CSAT 2005]
C. Rickets 3. Hormonal disorder (a) Both A and R are individually true and
D. Ringworm 4. Fungal infection R is the correct explanation of A
(a) A 2; B 3; C 4; D 1 (b) Both A and Rare individually true but R
(b) A 2; B 3; C 1; D 4 is not the correct explanation of A
(c) A 3; B 2; C 1; D 4 (c) A is true but R is false
(d) A 3; B 2; C 4; D 1 (d) A is false but R is true
36. Assertion (A) : Drinking of whisky increases 41. Consider the following statements:
the frequency of urination. [CSAT 2006]
Reason (R) : Alcohol intake speeds up the 1. Meningococcal Meningitis is transmitted
secretion of vasopressin in the body. from person to person by mosquito bites.
[CSAT 2002] 2. Vomiting and neck pain are two of the
(a) Both A and R are true and R is the correct symptoms of Meningococcal Meningitis.
explanation of A Which of the statement(s) given above is/are
(b) Both A and R are true but R is not a correct?
correct explanation of A (a) 1 only (b) 2 only
(c) A is true both R is false (c) Both 1 and 2 (d) Neither 1 nor 2
(d) A is false but R is true 42. Robert Webster is known for his work associated
37. Consider the following statements: with which one of the following? [CSAT 2007]
[CSAT 2004] (a) Cardiology (b) Influenza virus
1. Femur is the longest bone in the human (c) HIV/AIDS (d) Alzheimer
body. 43. The release of which one of the following
2. Cholera is a disease caused by bacteria. into ponds and wells helps in controlling the
3. Athletes foot is a disease caused by virus. mosquitoes? [CSAT 2008]
Which of the statements given above are correct? (a) Crab (b) Dogfish
(a) 1 and 2 (b) 2 and 3 (c) Gambusia fish (d) Snail
(c) 1 and 3 (d) 1, 2 and 3 44. Widespread resistance of malarial parasite to
38. Consider the following statements: drugs like chloroquine has prompted attempts to
[CSAT 2005] develop a malarial vaccine to combat malaria.
1. Dengue is a protozoan disease transmitted Why is it difficult to develop an effective malaria
by mosquitoes. vaccine ? [CSAT 2010]
C-156 Biology
58. Which one of the following is considered as the Select the correct answer using the code given below
drug of last resort for human beings? (a) 2, 3 and 4 (b) 1, 3 and 4
[CDS 2009 - I] (c) 1 and 2 (d) All of these
(a) Penicillin (b) Tetracycline 65. Dog bite can cause rabies. Which among the
(c) Chloramphenicol (d) Streptomycin following other animals can also cause rabies?
59. List I List II [CDS 2011 - I]
Agent of Transmission DiseaseTransmitted (a) Donkey (b) Bat
A. Anopheles mosquito 1. Kala-azar (c) Horse (d) Crocodile
B. Culex mosquito 2. Dengue 66. To suspect HIV/AIDS in a young individual,
C. Aedes 3. Malaria which one among the following symptoms is
D. Sandfly 4. Filana mostly associated with? [CDS 2011 - II]
[CDS 2009 - II] (a) Long standing jaundice and chronic liver
Codes disease
A B C D (b) Severe anaemia
(a) 3 2 4 1 (c) Chronic diarrhoea
(b) 1 4 2 3 (d) Severe persistent headache
(c) 1 2 4 3 67. The anti-malarial drug quinine is made from a
(d) 3 4 2 1 plant. The plant is [CDS 2011 - II]
60. For which one among the following diseases (a) neem (b) eucalyptus
vaccine is yet available? [CDS 2009 - II] (c) cinnamon (d) cinchona
(a) Tetanus (b) Malaria 68. Cancer is more common in older people
(c) Measles (d) Mumps because [CDS 2013 - II]
61. Itching due to insect bite is caused by (a) their immune systems have degenerated
[CDS 2010 - I] (b) the supply of certain hormones declines
(a) formic acid (b) acetic acid with age
(c) lactic acid (d) maleic acid (c) their bodies are unable to adjust to the
62. Mosquito can be a vector for the following changing environment
disease except [CDS 2010- II] (d) they have accumulated more mutations
(a) yellow fever (b) dengue fever 69. Which one among the following is the generic
(c) filariasis (d) kala-azar name of the causal organism of Elephantiasis ?
63. Insects that can transmit diseases to human are (a) Filaria [CDS 2014-II]
referred to as [CDS 2011 - I] (b) Microfilaria
(a) carriers (b) reservoirs (c) Wuchereria bancrofti
(c) vectors (d) incubators (d) Culex pipiens
64. Which of the following diseases are transmitted 70. Which one of the following diseases in humans
from one person to another? [CDS 2011 - I] can spread through air ? [CDS 2015-I]
1. AIDS 2. Cirrhosis (a) Dengue (b) Tuberculosis
3. Hepatitis B 4. Syphilis (c) HIV-AIDS (d) Goitre
ANSWER KEY
1. (b) 2. (d) 3. (b) 4. (a) 5. (a) 6. (c) 7. (b) 8. (b)
9. (c) 10. (d) 11. (b) 12. (a) 13. (c) 14. (c) 15. (c) 16. (b)
17. (d) 18. (d) 19. (a) 20. (c) 21. (a) 22. (b) 23. (b) 24. (a)
25. (b) 26. (d) 27. (b) 28. (d) 29. (c) 30. (b) 31. (c) 32. (a)
33. (d) 34. (d) 35. (b) 36. (a) 37. (a) 38. (b) 39. (b) 40. (c)
41. (b) 42. (b) 43. (c) 44. (b) 45. (c) 46. (b) 47. (a) 48. (d)
49. (b) 50. (d) 51. (d) 52. (b) 53. (a) 54. (c) 55. (b) 56. (a)
57. (c) 58. (c) 59. (d) 60. (b) 61. (a) 62. (d) 63. (c) 64. (b)
65. (b) 66. (d) 67. (d) 68. (d) 69. (c) 70. (b)
Chapter
GENETICS
11
INTRODUCTION William Bateson came close to redis-
covering Mendels laws through his own
Heredity is the transmission of genetic characters
experiments became one of the leading
from parent to offsprings. Individuals of same species
advocates of Mendelian genetics.
have some differences, these are called variation.
BASIC TERMS USED IN INHERITANCE
MENDELS FINDINGS : STUDIES
1. Mendels Law of Dominance and Recessive Factors: Factor is the unit of heredity which
Each of the f1 generation plant shows is responsible for inheritance and appearance
inheritance of Y allele from one parent and of characters.
a G allele from the other. When the f1 plants
A pure line is a plant or animal that is
breed, each has equal chance of passing on
genetically pure for particular character and
either Y or G allele to each offspring.
will give rise to same character after self
In all the seven traits that Mendel examined,
fertilization or inter breeding.
one form appeared dominant over the other
i.e., it marked the presence of the other Allele: It is an alternative form of a gene which
allele, e.g. when genotype of pea colour are located on same position (loci) on the
is YG (heterozygous), the phenotype is homologous chromosome. Term allele was
yellow. However, the dominant yellow coined by Bateson.
allele does not alter the recessive green in Homozygous: A zygote is formed by fusion
any way and both alleles can be passed on of two gametes having identical factors is
to the next generation unchanged. called homozygote and organism developed
from this zygote is called homozygous.
gene makes gene makes Ex. TT, RR, tt.
flower red (R) flower white (r) Heterozygous: A zygote is formed by fusion
of two different types of gamete carrying
different factors is called heterozygote (Tt,
Dominant Recessive Rr) and individual developed from such
zygote is called heterozygous.
Mendels observations of his experiments led
to two principles or laws: Hemizygous: If individual contains only
Mendels work ignored for over 30 years. one gene of a pair then individual is said to
His work was redicovered by Hugo de be hemizygous. Male individual is always
Vries, Karl Correns and Erish Tschermak. hemizygous for sex linked gene.
Genetics C-173
Phenotype: It is the external and Reciprocal cross: When two parents are
morphological appearances of an organism used in two experiments in such a way that
for a particular character. in one experiment A is used as the female
Genotype: It is the genetic constitution parent and B is used as the male parent, in
or genetic make-up of an organism for a the other experiment A will be used as the
particular character. male parent and B as the female parent,
Back cross: A back cross is a cross in which such type of a set of two experiments is
F1 individuals are crossed with any of their called reciprocal cross.
parents. 2. Law of Segregation: According to this law, for
Test cross: When F1 progeny is crossed with any particular trait, the pair of alleles of each
recessive parent then it is called test cross. parent separate and only one allele passes from
Monohybrid test cross: The progeny each parent to an offspring. Allele in a parents
obtained from the monohybrid test cross pair of allele is inherited as a matter of chance
are in equal proportion, means 50% is (we now know segregation of alleles occurs
dominant phenotypes and 50% is recessive during the process of meiosis).
phenotypes. 3. Law of Independent Assortment: This is
It can be represented in symbolic forms as also known as Inheritance law. According
follows. to this law, different pairs of alleles are passed
F1 progeny (hybrid) Recessive parent to offspring independently of each other. The
t result is that new combination of genes present
T Tt in neither parents is possible e.g. a pea plants
t tt inheritance of the ability to produce purple
flowers instead of white ones does not make it
Monohybrid test cross ratio = 1 : 1 more likely that it will also inherit the ability to
Dihybrid test cross: The progeny is produce yellow pea seeds in contrast to green
obtained from dihybrid test cross are of four ones. Today, we know this is due to the fact that
types and each of them is 25%. the genes for independently assorted traits are
F1-dihybrid Recessive parent located an different chromosomes.
Mendels experiment with crossing one
TtRr ttrr trait (monohybrid cross) always resulted in
a 3 : 1 ratio between dominant and recessive
RT Tr Rt tr phenotype. His experiment with mixing
tr TtRr Ttrr ttRr ttrr two traits (dihybrid cross) showed 9 : 3 : 3 :
1 ratio. But the 9 : 3 : 3 : 1 table shows that
The ratio of dihybrid test cross = 1: 1: 1: 1 each of the two genes are independently
Conclusion: In test cross phenotypes and inherited with a 3 : 1 ratio i.e., different traits
genotypes ratio are same. are inherited independently of each other.
PARENTAL CROSS
Gametes from Hybrid 1
Rr Yy Rr Yy Rr Yy Rr Yy
f1 generation Genotype
Round Round Round Round
yellow yellow yellow yellow f1 generation Phenotype
C-174 Biology
GENES
Genes are responsible for the characteristics
features (or traits) of organism-plant or animals. The
characteristics or traits of parents are transmitted to
their progeny (off springs) through genes present
on their chromosomes during the process of sexual
reproduction.
According to the latest finding there are nearly
30,000 genes in humans, collectively called the
genome.
Genes are the specific parts of a chromosomes
(DNA segment) which determine the heredity
characteristics.
Idiogram Genes are arranged linearly along long chains
of DNA sequence, called chromosomes. The
Handy Facts DNA of the chromosome is associated with
Mutagens are of 2 types: proteins that organise, compact and control
Physical mutagens or radiations, e.g., X-rays, the access to the DNA, forming a material
b-rays, g-rays, UV-rays, etc. called chromatin. In eukaryotes, chromatin is
Radiations are of 2 types: composed of nucleosomes segments of DNA
(i) Ionizing radiations, e.g., X-rays, wound around histone protein. The full set of
b-rays, g-rays. These have high hereditary material in an organism i.e., the
penetrating power. combined DNA sequences of all chromosomes
(ii) Non-ionizing radiations, e.g., UV-rays is called genome.
(first used by Altenburg, 1930). They Haploid organisms have only one copy of each
have low penetrating power. chromosome while diploid organisms (most
Chemical mutagens: Use of chemicals animals and many plants) contain two of each
for inducing mutations was first made by chromosome i.e., they have two copies of every
C. Auerbach during World war II. She used gene. The two alleles for a gene are located on
mustard gas (having delayed effect after 2, identical loci of sister chromatid, each allele
3 generation), ethyl urethane, formaldehyde, inherited from a different parent.
C-176 Biology
MULTIPLE ALLELE
More than 2 alternative forms of same gene
is called as multiple allele. Multiple allele is
formed due to mutation and located on same
Pleiotropic Gene locus of homologous chromosome.
Gene which controls more than one character A diploid individual contains two alleles and
is called pleiotropic gene. This gene shows gamete contains one allele for a character.
multiple phenotypic effect. Blood group - 3 alleles
Examples of pleiotropic gene in human. Coat colour in rabbit - 4 alleles
If n is the number of allele of a gene then
Sickle cell anaemia : Gene provide a
number of different possible genotype =
classical example of pleiotropy. The
sickle cell HbS allele also has pleiotropic n ( n + 1)
effect on the development of many tissues 2
and organs such as bone, lungs, kidney, Example of multiple allele
spleen, heart. ABO blood group : ABO blood groups are
determined by allele IA, allele IB, allele ID
Lethal Gene
IA = dominant
Gene which causes death of individual in early IB = dominant
stage when it comes in homozygous condition ID = recessive
is called lethal gene.
Possible phenotypes - A, B, AB, O
It may be dominant or recessive both, but
mostly recessive for lethality. Lethal gene was Blood Genotype Antigen or Antibody
discovered by L. Cuenot in coat colour of mice. group agglutino- or
gen agglutinin
Handy Facts A A
I I ,A A b
The position of a gene on the chromosome, is IAIO
called a locus.
Dr. Karl Landsteiner got Nobel Prize in 1930, IBIB,
B B a
for discovery of blood groups A, B and O. IBIO
Blood group AB was discovered by De
AB IAIB A&B None
Castelo and Sturli.
Blood groups M, N and MN were discovered O I O IO None a&b
by K. Landsteiner and A. S. Wiener.
Rh factor was discovered by K. Landsteiner Possible genotype number = 3 (3 + 1) = 6
and A. S. Wiener. genotype. 2
Genetics C-177
Sex Determination
HGP was closely associated with the rapid Identification of defective genes and hence the
development of new area in biology called as bio- opportunity to offer early treatment.
informatics. It is usually applied in the context of Predections of proteins that the genes produce
analyzing DNA sequencing date. giving an opportunity of design appropriate
drugs to enhance or inhibit the activities of
Salient Features of Human Genome these proteins.
The human genome contains 3164.7 million
Handy Facts
nuclestide bases.
First prokaryotes in which complete genome
Less than 2 percent of the genome codes for
was sequenced is Haemophilus influenzae.
proteins. First eukaryote in which complete genome
Chromosome 1 has most genes (2968) and Y was sequenced is saccharomyces cervisiae
has the fewest (231). (yeast).
First plant in which complete genome was
Application of HGP sequenced is Arabidopsis thaliana.
Identification of genes that confer a First animal in which complete genome
susceptibility to certain diseases and 80 enable was sequenced is caenorhabditis elegans
individual to take preventive measure. (nematode).
EXERCISE
1. Which one of the following is a hereditary 5. Assertion (A) : In human being, the females
disease ? [NDA 2006-II] play a major role in determining the sex of the
(a) Cataract offspring.
(b) Haemophilia Reason (R) : Women have two X chromosomes.
(c) Pellagra [CSAT 2000]
(d) Osteoporosis Codes :
2. Which one of the following statements is (a) Both A and R are true and R is the correct
correct ? explanation of A
Cretinism is a human disorder which is due to (b) Both A and R are true but R is not a correct
the under secretion of : [NDA 2006-II] explanation of A
(a) Adrenalin hormone (c) A is true but R is false
(b) Cortisone hormone (d) A is false but R is true
(c) Glucagon hormone 6. In the context of genetic disorders, consider the
(d) Thyroxin hormone following:
3. Which one of the following is not a genetic A woman suffers from colour blindness while
disorder? [NDA 2007-II] her husband does not suffer from it. They have
(a) Colour blindness a son and a daughter. In this context, which one
(b) Downs syndrome of the following statements is most probably
(c) Haemophilia correct? [CSAT 2009]
(d) Xerophthalmia (a) Both children suffer from colour blindness.
4. Which one of the following genetic diseases is (b) Daughter suffers from colour blindness
sex-linked? [CSAT 1999] while son does not suffer from it.
(a) Royal haemophilia (c) Both children do not suffer from colour
(b) Tay-Sachs disease blindness.
(c) Cystic fibrosis (d) Son suffers from colour blindness while
(d) Hypertension daughter does not suffer from it.
Genetics C-181
7. A married couple adopted a male child. A few 14. Which one of the following techniques can be
years later, twin boys were born to them. The used to establish the paternity of a child l?
blood group of the couple is AB positive and O [IAS (Pre) 1997]
negative. The blood group of the three sons is A (a) Protein analysis
positive, B positive , and O positive. The blood (b) Quantitative analysis of DNA
group of the adopted son is ? [CSAT 2011 - I] (c) Chromosome counting
(a) O positive (d) DNA fingerprinting
(b) A positive 15. Which of the following professionals are more
(c) B positive likely to run the risk of a permanent change in
(d) Cannot be determined on the basis of the their cells DNA? [IAS (Pre) 1995]
given data
1. Researchers using carbon 14 isotope
8. Which of the following cause(s) variation in the
2. X-ray technician
genetic material of progeny? [CDS 2015]
3. Coal miner
1. Sexual reproduction
4. Dyer and painter
2. Asexual reproduction
3. Mutations (a) Only 2 (b) 1, 2 and 3
4. Epigenetic changes (c) 1, 2 and 4 (d) 1, 3 and 4
Select the correct answer using the code given 16. Number of chromosome in a normal human body
below. cell is [SSC 2011]
(a) 2 only (b) 1, 2 and 3 (a) 43 (b) 44
(c) 1, 3 and 4 (d) 1 and 3 only (c) 45 (d) 46
9. A mother of blood group O has a group O child. 17. Which one of the following genetic disease is
What could be the blood group of father of the sex-linked? [IAS (Pre) 1999]
child? [CDS 2007 - II] (a) Royal haemophilia
(a) Only O (b) A or B or O (b) Tay-Sachs disease
(c) A or B (d) Only AB (c) Cystic fibrosis
10. Between which one of the following sets of (d) Hypertension
blood groups, is the blood transfusion possible? 18. Assertion (A) : In human beings, the female
[CDS 2008 - II] play a major role in determining the sex of the
(a) A and O (b) B and A offspring.
(c) A and AB (d) AB and O Reason (R) : Women have two X-chromosomes.
11. What is the most conspicuous salient feature of [IAS (Pre) 2000]
people with Progeria? [CDS 2010 - II] (a) Both A and R are true and R is the correct
(a) More hair on body explanation of A
(b) Less immunity to opportunistic infections (b) Both A and R are true, but R is not a correct
(c) Faster rate of ageing
explanation of A
(d) Surfer from infertility
(c) A is true, but R is false
12. Which one among the following is not correct
(d) A is false, but R is true
about Downs syndrome? [CDS 2011 - I]
19. Variation can be brought about by
(a) It is a genetic disorder
(b) Effected individual has early ageing (a) sexual reproduction
(c) Effected person has mental retardation (b) copying of DNA
(d) Effected person has furrowed tongue with (c) adjusting with environment
open mouth (d) All of the above
13. Haemophilia is a genetic disorder which lead to 20. The sex of the child in humans primarily depends
[IAS (Pre) 1998] on
(a) decrease in hamemoglobin level (a) X chromosome of female part
(b) rheumatic heart disease (b) X and Y chromosome of male part
(c) decrease in WBC (c) Both (a) & (b)
(d) non-clotting of blood (d) None of the two
C-182 Biology
ANSWER KEY
1. (b) 2. (d) 3. (d) 4. (a) 5. (d) 6. (d) 7. (a) 8. (c)
9. (b) 10. (c) 11. (c) 12. (b) 13. (d) 14. (d) 15. (c) 16. (d)
17. (a) 18. (d) 19. (d) 20. (b) 21. (b) 22. (b) 23. (a) 24. (c)
25. (b) 26. (a) 27. (c) 28. (a) 29. (a) 30. (a) 31. (d) 32. (a)
33. (b) 34. (b) 35. (d) 36. (a) 37. (c) 38. (a) 39. (a) 40. (a)
41. (c) 42. (b) 43. (b) 44. (d) 45. (c) 46. (d) 47. (b) 48. (b)
49. (c) 50. (a)