Biology

Human Genetics and Disorders

882 Questions

Human Genetics and Disorders covers the inheritance patterns, genetic mutations, and molecular basis of hereditary diseases. Topics include sex-linked traits, cancer genetics, and metabolic disorders. This section tests knowledge critical for biology exams and general science papers.

Genetic mutationsInherited disordersCancer geneticsGenetic testingMendelian inheritance

Human Genetics and Disorders Questions

Multiple choice zoology biotechnology and its applications stem cell stem cells and applications stem cells organ donation and body donation blood and organ donation

Which of the following is considered as a complication of stem cell transplantation?

  1. Graft-versus-host disease

  2. Down syndrome

  3. Huntington's disease

  4. None of the above
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

The stem cell transplantation is the method which can be used for the treatment of many disorders like cancer, genetic defects, etc. The main complication of this method is graft rejection by the host. The graft may contain antigens which act as a foreign body in the host. The antibodies are produced against this organ which results in the rejection and destruction of the organ in the host. 

Thus, the correct answer is option A. 

Multiple choice zoology genetics of the future gene therapy application of biology in therapy and vaccine gene cloning

SCID is caused by defective gene coding for enzyme ______________.

  1. Adenosine deaminase

  2. Adenosine transaminase

  3. Adenosine transferase

  4. Guanosine transaminaseGuanosine deaminase
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

Adenosine deaminase deficiency SCID, commonly called ADA SCID, is a very rare genetic disorder. It is caused by a mutation in the gene that encodes a protein called adenosine deaminase (ADA). 

Multiple choice zoology genetics of the future gene therapy application of biology in therapy and vaccine gene cloning

Enzyme adenosine deaminase is deficient in .......... genetic disorder.

  1. Alzheimers disease

  2. Muscular dystrophy

  3. SCID

  4. Colour blindness
Reveal answer Fill a bubble to check yourself
C Correct answer
Explanation

The correct option is C


Severe combined immunodeficiency (SCID) is an X-limbed inherited disorder of the immune system, that occurs almost exclusively in males. Boys with x-linked SCID are prone to recurrent and persistent infections because they 
lack the necessary immune cells to fight off certain bacteria, viruses, etc, It is 
caused by a disorder of or by a deficiency of the adenosine deaminase which is very necessary for lymphocyte development.

Multiple choice zoology genetics of the future gene therapy application of biology in therapy and vaccine gene cloning

First clinical application of gene therapy was used in 1992 over a four year old girl for

  1. Adenosine deficiency

  2. Adenine deficiency

  3. Growth deficiency

  4. Adenosine deaminase deficiency
Reveal answer Fill a bubble to check yourself
D Correct answer
Explanation

The first successful gene therapy trial in 1990 (often cited as 1992 in some texts) was performed on Ashanthi DeSilva for Adenosine Deaminase (ADA) deficiency.

Multiple choice zoology genetics of the future gene therapy application of biology in therapy and vaccine gene cloning

The genetic defect adenosine deaminase (ADA) deficiency may be cured permanently by

  1. Introducing bone marrow cells producing (ADA) into cells at an early embryonic stage.

  2. Administrating adenosine deaminase activators.

  3. Periodic infusion of genetically engineered lymphocytes having functional ADA cDNA.

  4. Enzyme replacement therapy.
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

Permanent cure for ADA deficiency involves introducing functional ADA genes into bone marrow stem cells at an early stage, allowing the body to produce its own functional enzyme.

Multiple choice zoology genetics of the future gene therapy application of biology in therapy and vaccine gene cloning

Which of the following statements is incorrect about gene therapy in ADA deficiency?

  1. Lymphocytes from patient's blood are taken out and cultured.

  2. A functional ADA cDNA is introduced into these lymphocytes.

  3. Lymphocytes are then introduced in the body of patient.

  4. Patient does not require periodic infusion of genetically engineered lymphocytes.
Reveal answer Fill a bubble to check yourself
D Correct answer
Explanation
As a first step towards gene therapy, lymphocytes from the blood of the patient are grown in a culture outside the body. A functional ADA-cNDA  (using a retroviral vector) is then introduced into these lymphocytes, which are subsequently returned to the body of the patient. However, as these cells are not immortal, the patient requires periodic infusion of such genetically engineered lymphocytes.
So, the correct answer is 'Patient does not require periodic infusion of genetically engineered lymphocytes'.
Multiple choice zoology genetics of the future gene therapy application of biology in therapy and vaccine gene cloning

Adenosine deaminase deficiency can be permanently cured by which of the following methods?

  1. Bone marrow transplantation

  2. Enzymes replacement therapy

  3. Gene therapy at early embryonic stages

  4. All of these
Reveal answer Fill a bubble to check yourself
C Correct answer
Explanation

Adenosine deaminase (ADA) deficiency can be treated by bone marrow transplantation, or by enzyme replacement therapy, in which functional ADA is given to the patient by injection. But permanent treatment can be done by introduction of gene isolated from bone marrow cells, which produces ADA, into the cells of the patient at early embryonic stage.

Multiple choice zoology genetics of the future gene therapy application of biology in therapy and vaccine gene cloning

Diseases that are caused by the malfunction of a phototropic gene are:

  1. Cured by dietary restrictions

  2. Reversible by gene therapy

  3. Called as syndromes

  4. Extremely rare
Reveal answer Fill a bubble to check yourself
B Correct answer
Explanation
Phototropism is the growth of an organism which responds to a light stimulus. It is most often observed in plants, but can also occur in other organisms such as fungi. The cells on the plant that are farthest from the light have a chemical called auxin that reacts when phototropism occurs. Gene therapy is an experimental technique that uses genes to treat or prevent disease. In the future, this technique may allow doctors to treat a disorder by inserting a gene into a patient's cells instead of using drugs or surgery. 
So the correct option is 'Reversible by gene therapy'.
Multiple choice zoology genetics of the future gene therapy application of biology in therapy and vaccine gene cloning

What is the permanent cure of adenosine deaminase (ADA) deficiency in children?

  1. Bone marrow transplantation

  2. Enzyme replacement therapy in which functional ADA is given to patient by injection

  3. Infusion of genetically engineered lymphocytes (in which functional ADA-cDNA is introduced) into the patient's blood

  4. Introduction of gene isolated from the bone marrow cells which produce ADA, into the cells of the patient at early embryonic stages
Reveal answer Fill a bubble to check yourself
D Correct answer
Explanation

Adenosine deaminase (ADA) deficiency can be treated by bone marrow transplantation, or by enzyme replacement therapy, in which functional ADA is given to the patient by injection. But permanent treatment can be done by introduction of gene isolated from bone marrow cells, which produces ADA, into the cells of the patient at early embryonic stage.

Multiple choice zoology genetics of the future gene therapy application of biology in therapy and vaccine gene cloning

Which kind of therapy was given in $1990$ to a four-year-old girl with Adenosine Deaminase(ADA) deficiency?

  1. Gene therapy

  2. Chemotherapy

  3. Immunotherapy

  4. Radiation therapy
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

First successful gene transfer in human was performed by F.Anderson. Ashi Disilva a 4-year girl was treated by replacing ADA gene in lymphocytes.

The girl was suffering from Severe Combined Immunodeficiency (SCID). Gene therapy was used for the treatment of ADA deficiency.
So, the correct option is 'Gene therapy'.

Multiple choice zoology applications of biotechnology gene therapy application of biology in therapy and vaccine gene cloning

Immune deficiency disorder, which occur due to mutation in gene, involved in maturation of T and B lymphocytes is

  1. IDDM

  2. Hashimoto disease

  3. SCID

  4. Pernicious anemia
Reveal answer Fill a bubble to check yourself
C Correct answer
Explanation

  • Insulin-Dependent Diabetes Mellitus or IDDM is an immune deficiency disorder. It occurs due to a mutation in a gene involved in insulin-producing β cells in the pancreas. 
  • Hashimoto's disease is an autoimmune disorder that results in hypothyroidism. It results in defects in the maturation of T lymphocytes. 
  • Severe combined immunodeficiency (SCID) is an immunodeficiency syndrome. It occurs due to a mutation in the gene involved in the maturation of T and B lymphocytes. 
  • Pernicious anemia is also called as vitamin B$ _{12}$ deficiency syndrome. It results due to a lack of intrinsic factor. 
Thus, the correct answer is 'Hashimoto disease and SCID.'

Multiple choice biology transportation in plants and animals blood transfusion transfusion of blood blood and organ donation

Like sickle cell anemia, which is the other generic disorder related to blood pigment?

  1. Phenylketoneunia

  2. Leukemia

  3. Thalassemia

  4. Xeroderma pigmentosis
Reveal answer Fill a bubble to check yourself
C Correct answer
Explanation
Thalassemia is a human anaemia due to an autosomal mutant gene and when this change is present in the homozygous condition, the trait is severe thalassemia major and causes death in childhood.
The heterozygous individuals show a mild disease also known as thalassemia minor.
The person suffering from thalassemia major are unable to produce a beta chain. Their haemoglobin contains delta change like that of the foetus and it is unable to carry oxygen transport.
So, the correct option is 'thalassemia.'


Multiple choice biology transportation in plants and animals blood transfusion transfusion of blood blood and organ donation

The disease erythroblastosis foetalis of human baby is due to

  1. Incompatibility of blood groups of the couple

  2. Incompatibility of blood groups of embryo and mother

  3. Maladjustment of Rh factor

  4. All of the above
Reveal answer Fill a bubble to check yourself
C Correct answer
Explanation
The disease erythroblastosis fetalis of human baby occurs due to incompatibility or maladjustment of Rh factor. It occurs when a Rh+ father and Rh-- conceive a baby. During the time of delivery, some of the blood cells from baby enter the mother's blood stream. The immune system of mother will the recognize the cells as foreign particles and produces antibodies against them. In the subsequent pregnancy with Rh+ baby, there are chances of Rh disease. The blood circulation of mother and baby is separated but still the antibodies of mother's body can cross the placenta and enter the blood stream of baby. The antibodies cause breakdown of RBCs of the baby leading to anaemia and ultimately death. So the problem does not arises at the time of birth of first child but in subsequent pregnancy, there is risk of erythroblastosis fetalis. 
So, the correct answer is 'Maladjustment of Rh factor'.
Multiple choice zoology skeleton and movements disorders of musculoskeletal system disorders of muscle and skeleton joints and movements

Progressive degeneration of skeletal muscle, mostly due to genetic disorder occurs in

  1. Myasthenia gravis

  2. Muscular dystrophy

  3. Arthritis

  4. Tetany

  5. Osteoporosis
Reveal answer Fill a bubble to check yourself
B Correct answer
Explanation
  • Muscular dystrophy is a group of inherited muscle diseases in which muscle fibers are unusually susceptible to damage.
  • It is characterized by progressive skeletal muscle degeneration, defects in muscle proteins and the death of muscle cell and tissue.
  • Hence progressive degeneration of skeletal muscle, mostly due to genetic disorder occurs in muscular dystrophy.
  • So, the correct answer is 'Muscular dystrophy'.