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

Which of the following can be inherited?

  1. AIDS

  2. Cystic fibrosis

  3. Tuberculosis

  4. Cortical dysplasia
Reveal answer Fill a bubble to check yourself
B Correct answer
Explanation

It is a genetic disease caused by a gene mutation. The gene controls the movement of salts and water into and out of the cells.The mutated form of the gene results in thick mucus to be secreted by the lungs, airways and pancreas, including many other symptoms. The mutated gene is recessive to the normal gene.

Multiple choice

Microsatellite instability is associated with

  1. hereditary nonpolyposis colon cancer

  2. familial adenomatous polyposis

  3. neurofibromatosis

  4. hereditary breast cancers
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

Microsatellite instability results from aberrant mismatch repair and is characteristic of HNPCC.

Multiple choice

Which among the following does NOT characterise tumor suppressor genes?

  1. Transmitted as dominant traits in families.

  2. May be associated with loss of heterozygosity in tumors.

  3. Act dominantly in tumor cells.

  4. Associated with two-hit model of carcinogenesis.
Reveal answer Fill a bubble to check yourself
C Correct answer
Explanation

This statement is incorrect. The tumor suppressor genes does not act dominantly in tumor cells.

Multiple choice

The Bleeder's disease is also known as

  1. Mongolism

  2. Colour blindness

  3. Haemophilia

  4. Down's syndrome
Reveal answer Fill a bubble to check yourself
C Correct answer
Explanation

Bleeder's disease is the common name for Haemophilia, a genetic disorder where blood doesn't clot properly due to deficiency of clotting factors (VIII or IX). Colour blindness, Down's syndrome (mongolism is an outdated term), and other genetic conditions mentioned are unrelated to bleeding disorders.

Multiple choice

Haemophilia is a hereditary disease carried by

  1. females and expressed by females

  2. females and expressed by males

  3. males and expressed by females

  4. males and expressed by males
Reveal answer Fill a bubble to check yourself
B Correct answer
Explanation

 Haemophilia is a hereditary disease carried by females and expressed by males.

Multiple choice

Huntington disease is caused by

  1. increased number of trinucleotide gene repeats (CAG)

  2. mutation in gene for the protein cystic fibrosis trans-membrane conductance regulator or CFTR

  3. deficiency of the protein α1-anti-trypsin or A1-AT

  4. formation of insoluble amyloid protein

  5. none of the above
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

Huntington disease is caused by increased number of trinucleotide gene repeats (CAG) leading to increased number of glutamine residues incorporated incorresponding protein.

Multiple choice

Which of the following is not a cause of polycythaemia?

  1. Mutation of JAK 2

  2. Renal failure

  3. Congenital heart disease

  4. Haemoglobin abnormality

  5. Iron overload
Reveal answer Fill a bubble to check yourself
E Correct answer
Explanation

Iron overload is an excess of iron in the body. Excess iron in vital organs, even in mild cases of iron overload, increases the risk for liver disease like cirrhosis, cancer , heart attack or heart failure, diabetes mellitus etc, but it is not a cause of polycythaemia.

Multiple choice

Examples of congenital diseases are

  1. alkaptonuria and albinism

  2. albinism and sickle cell anemia

  3. hemophilia

  4. All of the above
Reveal answer Fill a bubble to check yourself
D Correct answer
Explanation

This is the correct option. Congenital disorder or congenital disease is a condition existing at birth and often before birth, regardless of causation. Of these diseases, those characterised by structural deformities are termed "congenital anomalies" and involve defects in or damage to a developing foetus.