Medical Genetics and Genomics

Description: This quiz covers fundamental concepts, disorders, and advancements in Medical Genetics and Genomics.
Number of Questions: 15
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Tags: genetics genomics medical genetics genetic disorders molecular biology
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Which genetic material is responsible for inheriting traits from parents?

  1. DNA

  2. RNA

  3. Proteins

  4. Lipids


Correct Option: A
Explanation:

DNA (deoxyribonucleic acid) is the genetic material that carries instructions for an organism's development and characteristics, inherited from both parents.

What is the term for the study of genetic variation and its impact on health and disease?

  1. Genomics

  2. Proteomics

  3. Metabolomics

  4. Transcriptomics


Correct Option: A
Explanation:

Genomics is the study of the entire set of genes in an organism, including their interactions and variations, and how they affect health and disease.

Which genetic testing technique is commonly used to identify genetic mutations associated with diseases?

  1. Karyotyping

  2. Polymerase Chain Reaction (PCR)

  3. Microarray Analysis

  4. Southern Blotting


Correct Option: B
Explanation:

Polymerase Chain Reaction (PCR) is a widely used genetic testing technique that amplifies specific DNA sequences, allowing for the detection of genetic mutations and variations.

What is the term for a genetic disorder caused by a mutation in a single gene?

  1. Polygenic Disorder

  2. Multifactorial Disorder

  3. Mitochondrial Disorder

  4. Mendelian Disorder


Correct Option: D
Explanation:

Mendelian disorders are genetic disorders caused by mutations in a single gene, following the principles of Mendelian inheritance patterns.

Which genetic disorder is characterized by an extra copy of chromosome 21?

  1. Down Syndrome

  2. Turner Syndrome

  3. Klinefelter Syndrome

  4. Fragile X Syndrome


Correct Option: A
Explanation:

Down Syndrome is a genetic disorder caused by an extra copy of chromosome 21, resulting in distinct physical and cognitive characteristics.

What is the term for the process of transferring genetic material from one organism to another?

  1. Gene Therapy

  2. Genetic Engineering

  3. Recombinant DNA Technology

  4. Transgenesis


Correct Option: A
Explanation:

Gene Therapy involves transferring genetic material into a patient's cells to treat genetic disorders or diseases by correcting faulty genes or introducing functional ones.

Which genetic testing method is used to analyze variations in the entire genome?

  1. Karyotyping

  2. Sanger Sequencing

  3. Genome-Wide Association Study (GWAS)

  4. DNA Microarray Analysis


Correct Option: C
Explanation:

Genome-Wide Association Studies (GWAS) analyze genetic variations across the entire genome to identify genetic markers associated with specific traits or diseases.

What is the term for a genetic disorder caused by a mutation in multiple genes?

  1. Polygenic Disorder

  2. Multifactorial Disorder

  3. Mitochondrial Disorder

  4. Mendelian Disorder


Correct Option: A
Explanation:

Polygenic disorders are genetic disorders caused by variations in multiple genes, each contributing to the overall risk of developing the disorder.

Which genetic testing technique is used to identify chromosomal abnormalities?

  1. Karyotyping

  2. Polymerase Chain Reaction (PCR)

  3. Microarray Analysis

  4. Southern Blotting


Correct Option: A
Explanation:

Karyotyping is a genetic testing technique that analyzes the number and structure of chromosomes to identify chromosomal abnormalities, such as deletions, duplications, or translocations.

What is the term for the study of the interactions between genes and the environment in shaping health and disease?

  1. Epigenetics

  2. Pharmacogenomics

  3. Toxicogenomics

  4. Nutrigenomics


Correct Option: A
Explanation:

Epigenetics studies the heritable changes in gene expression that do not involve changes in the DNA sequence itself, but rather modifications that affect gene activity.

Which genetic disorder is characterized by the inability to digest lactose due to a deficiency of the enzyme lactase?

  1. Lactose Intolerance

  2. Celiac Disease

  3. Phenylketonuria (PKU)

  4. Cystic Fibrosis


Correct Option: A
Explanation:

Lactose Intolerance is a genetic disorder caused by a deficiency of the enzyme lactase, resulting in the inability to digest lactose, a sugar found in milk and dairy products.

What is the term for the study of genetic variations and their impact on drug response and metabolism?

  1. Epigenetics

  2. Pharmacogenomics

  3. Toxicogenomics

  4. Nutrigenomics


Correct Option: B
Explanation:

Pharmacogenomics studies the genetic variations that influence an individual's response to drugs, including their effectiveness and side effects.

Which genetic disorder is characterized by the accumulation of toxic substances in the body due to a deficiency of the enzyme phenylalanine hydroxylase?

  1. Lactose Intolerance

  2. Celiac Disease

  3. Phenylketonuria (PKU)

  4. Cystic Fibrosis


Correct Option: C
Explanation:

Phenylketonuria (PKU) is a genetic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase, leading to the accumulation of toxic substances in the body if untreated.

What is the term for the study of genetic variations and their impact on an individual's nutritional needs and responses?

  1. Epigenetics

  2. Pharmacogenomics

  3. Toxicogenomics

  4. Nutrigenomics


Correct Option: D
Explanation:

Nutrigenomics studies the interactions between genetic variations and nutrition, examining how genetic factors influence an individual's response to different nutrients and dietary components.

Which genetic disorder is characterized by the presence of thick, sticky mucus in the lungs and other organs due to a mutation in the CFTR gene?

  1. Lactose Intolerance

  2. Celiac Disease

  3. Phenylketonuria (PKU)

  4. Cystic Fibrosis


Correct Option: D
Explanation:

Cystic Fibrosis is a genetic disorder caused by a mutation in the CFTR gene, leading to the production of thick, sticky mucus in the lungs and other organs, causing respiratory and digestive problems.

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