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

The disorder due to single mutated gene is

  1. single gene disorder

  2. autosomal dominant gene

  3. autosomal recessive disorder

  4. x-linked dominant disorder
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

A single gene disorder is the result of a single mutated gene. There are estimated to be over 4000 human diseases caused by single gene defects. Single gene disorders can be passed on to subsequent generations in several ways.

Multiple choice

______________ is a neuro-degenerative genetic disorder.

  1. Mucopolysaccharidoses

  2. Glycogen storage disease

  3. Galactosemia

  4. Huntington's disease (HD)
Reveal answer Fill a bubble to check yourself
D Correct answer
Explanation

Huntington's disease, is a neuro-degenerative genetic disorder that affects muscles coordination and leads to cognitive decline and dementia. It typically becomes noticeable in middle age.

Multiple choice

Which of the following is the result of 4p deletion?

  1. Wolf-Hirschhorn syndrome

  2. Rubinstein-Taybi syndrome

  3. Angelman syndrome

  4. Cri du chat syndrome
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

Wolf-Hirschhorn syndrome is a characteristic phenotype resulting from a partial deletion of chromosomal material of the short arm of chromosome 4 (4p deletion).

Multiple choice

What is the significance of CONDEL deletion mutations?

  1. They are responsible for immediate abortion.

  2. They are responsible for Cri du chat syndrome.

  3. They are responsible for evolutionary differences.

  4. They are responsible for spinal muscular dystrophy.
Reveal answer Fill a bubble to check yourself
C Correct answer
Explanation

hCONDEL deletions might be responsible for the evolutionary differences present among closely related species. Such deletions in humans are referred to as hCONDELs. They may be responsible for the anatomical and behavioral differences between humans, chimpanzees and other mammals.

Multiple choice

Which of the following diseases is caused by gene amplification?

  1. AIDS

  2. Cancer

  3. William's syndrome

  4. Duschenne muscular dystrophy
Reveal answer Fill a bubble to check yourself
B Correct answer
Explanation

Amplification or duplications of oncogenes are a common cause of many types of cancer. In such cases, the genetic duplication occurs in somatic cells and affects only the genome of cancer cells.

Multiple choice

Which of the following is caused by mutation in merlin (tumor suppressor) gene?

  1. Neurofibromatosis type I

  2. Neurofibromatosis type II

  3. Miller-Dieker syndrome

  4. Smith-Magenis syndrome
Reveal answer Fill a bubble to check yourself
B Correct answer
Explanation

Neurofibromatosis type (NF-II) is caused by mutations of the merlin gene. The main manifestation of the disease is the development of symmetric, non-malignant brain tumors in the region of the cranial nerve VIII, which is the auditory-vestibular nerve that transmits sensory information from the inner ear to the brain.