2.2 Genetic Disorders

• Genetic disorders are conditions caused by mutations in a person's genes or chromosomes
• Match the type of genetic disorder with its cause:

  Single-gene ↔️ Mutation in a single gene

  Chromosomal ↔️ Change in chromosome number

  Multifactorial ↔️ Genetic mutations and environmental factors
• Environmental factors alone can cause multifactorial disorders.

  False
• What type of disorder is type 2 diabetes?

  Multifactorial
• Multifactorial disorders arise from a combination of genetic predispositions and environmental factors
• What type of red blood cells are characteristic of Sickle Cell Anemia?

  Abnormal red blood cells
• Type 2 Diabetes is solely caused by genetic factors.

  False
• What are the symptoms of Down Syndrome?

  Intellectual disability, facial features
• Chromosomal disorders occur when there are changes in the number or structure of chromosomes.


  True
• Mutations are changes in the DNA sequence of a gene
• Cystic Fibrosis is caused by mutations in the CFTR gene
• Point mutations involve single nucleotide substitutions, insertions, or deletions
• Single-gene disorders like Cystic Fibrosis are caused by mutations in a single gene, such as the CFTR gene.


  True
• Sickle Cell Anemia is characterized by abnormal, sickle-shaped red blood cells
• Order the examples of genetic disorders based on their type (Single-gene, Chromosomal, Multifactorial).

  1️⃣ Cystic Fibrosis (Single-gene)

  2️⃣ Down Syndrome (Chromosomal)

  3️⃣ Heart Disease (Multifactorial)
• Down Syndrome is a chromosomal disorder that results in intellectual disability and distinct facial features.


  True
• Multifactorial disorders are influenced by both genetic and environmental factors.


  True
• Two carrier parents in an autosomal recessive inheritance pattern have a 25% chance of having an affected child.


  True
• Order the following diagnostic methods based on their use in detecting genetic disorders:

  1️⃣ Prenatal testing

  2️⃣ Newborn screening

  3️⃣ Carrier testing

  4️⃣ Diagnostic genetic tests
• What is the purpose of carrier testing in genetic diagnosis?

  Determines carrier status
• Lifestyle changes, such as dietary restrictions, are used in the treatment of disorders like PKU.
• Single-gene disorders, such as cystic fibrosis, are caused by mutations in a single gene.
• Mutations in the DNA sequence of a gene can be inherited or acquired.
• Cystic fibrosis is an example of a single-gene disorder caused by a mutation in a single gene.
• Down syndrome is caused by changes in the number or structure of chromosomes.
• Order the following inheritance patterns from most likely to least likely to affect females:

  1️⃣ X-linked Dominant

  2️⃣ Autosomal Dominant

  3️⃣ Autosomal Recessive

  4️⃣ X-linked Recessive

  5️⃣ Y-linked
• Heart disease is an example of a multifactorial genetic disorder.


  True
• In autosomal dominant inheritance, an affected parent transmits the disorder to 50% of their offspring.
• Single-gene disorders are caused by mutations in a single gene.


  True
• What are point mutations in DNA?

  Single nucleotide changes
• Down syndrome is an example of aneuploidy, which involves an abnormal number of chromosomes
• Single-gene disorders result from mutations in a single gene
• Match the type of genetic disorder with its cause:

  Single-gene ↔️ Mutation in a single gene

  Chromosomal ↔️ Change in chromosome number

  Multifactorial ↔️ Genetic and environmental factors
• Down Syndrome is caused by a chromosomal disorder called Trisomy
• The symptoms of Cystic Fibrosis include thick mucus buildup in the lungs and digestive system
• Genetic disorders are caused by mutations in a person's genes or chromosomes
• Multifactorial disorders result from a combination of genetic mutations and environmental factors
• Chromosomal abnormalities involve variations in the number or structure of chromosomes.


  True
• Aneuploidy, such as in Down syndrome, involves an abnormal number of chromosomes.


  True
• What is the chromosomal abnormality in Down syndrome called?

  Trisomy 21