2.3.4 Genetic Disorders

• Dominant genetic disorders require two abnormal alleles to manifest.

  False
• Cystic fibrosis is an example of a single-gene recessive
• Which genetic disorder is caused by a dominant allele and results in progressive brain damage?

  Huntington's disease
• Why are males more likely to be affected by hemophilia?

  Single X chromosome
• Dominant genetic disorders require two abnormal alleles to manifest.

  False
• Females can be carriers of sex-linked recessive disorders.

  True
• Match the genetic disorder with its inheritance pattern:

  Cystic Fibrosis ↔️ Recessive

  Huntington's Disease ↔️ Dominant

  Hemophilia ↔️ Sex-linked
• What is the primary symptom of hemophilia?

  Impaired blood clotting
• Hemophilia is more severe in males because they have only one X chromosome.


  True
• Amniocentesis is performed during 15-20 weeks of pregnancy
• Match the genetic disorder treatment with its definition:

  Gene Therapy ↔️ Altering or replacing faulty genes

  Enzyme Replacement Therapy ↔️ Supplementing missing enzymes

  Symptomatic Management ↔️ Addressing specific symptoms
• Individuals with recessive genetic disorders must inherit two copies of the abnormal allele.
• What are the primary symptoms of Huntington's disease?

  Brain damage and uncontrolled movements
• What is the median age of death for individuals with cystic fibrosis?

  Around 40 years
• Match the prenatal diagnostic method with its timing and procedure:

  Amniocentesis ↔️ 15-20 weeks, amniotic fluid withdrawn

  Chorionic Villus Sampling (CVS) ↔️ 10-13 weeks, placenta tissue sample
• Enzyme replacement therapy is used to supplement missing enzymes and alleviate symptoms caused by deficiencies.

  True
• Ethical considerations in genetic testing include ensuring informed consent and fair access to services.

  True
• What are genetic disorders caused by?

  Abnormal genes or chromosomes
• Match the type of genetic disorder with its definition:

  Dominant ↔️ One abnormal allele is sufficient

  Recessive ↔️ Two abnormal alleles are required

  Sex-linked ↔️ Gene located on sex chromosome
• What is the inheritance pattern of Huntington's disease?

  Dominant
• Sickle cell anemia is an example of a single-gene recessive
• Genetic disorders are caused by abnormal genes
• Order the types of genetic disorder inheritance patterns based on the number of abnormal alleles required:

  1️⃣ Dominant (one abnormal allele)

  2️⃣ Recessive (two abnormal alleles)

  3️⃣ Sex-linked (variable depending on sex)
• What is an example of a dominant genetic disorder?

  Huntington's disease
• Cystic fibrosis is a single-gene recessive
• Hemophilia is a sex-linked recessive disorder caused by a gene located on the X
• Match the genetic disorder with its impact on the individual:

  Cystic Fibrosis ↔️ Reduced life expectancy

  Huntington's Disease ↔️ Physical and mental disability

  Hemophilia ↔️ Limits physical activity
• Order the genetic disorder detection methods from earliest to latest in pregnancy:

  1️⃣ Chorionic Villus Sampling (CVS)

  2️⃣ Amniocentesis
• Enzyme replacement therapy is used to treat deficiencies caused by missing enzymes
• Sex-linked genetic disorders are more common in males because they only have one X chromosome.


  True
• Cystic fibrosis is a recessive genetic disorder caused by thick, sticky mucus buildup in the lungs and digestive system.


  True
• What is the impact of Huntington's disease on physical and mental abilities?

  Leads to complete disability
• Steps in newborn screening for genetic disorders:

  1️⃣ Heel prick to collect blood sample

  2️⃣ Sample analyzed for genetic markers

  3️⃣ Results communicated to parents

  4️⃣ Early treatment initiated if necessary
• Symptomatic management for genetic disorders aims to address specific symptoms to improve quality of life.
• Single-gene disorders are caused by a mutation in a single gene
• How are chromosomal disorders caused?

  Abnormal chromosomes
• Recessive genetic disorders require inheriting one copy of the abnormal allele.

  False
• Match the genetic disorder with its key symptoms:

  Cystic fibrosis ↔️ Thick mucus in lungs

  Huntington's disease ↔️ Uncontrolled movements

  Hemophilia ↔️ Impaired blood clotting
• Match the type of genetic disorder with its definition:

  Single-gene disorders ↔️ Caused by a mutation in a single gene

  Chromosomal disorders ↔️ Caused by extra, missing, or abnormal chromosomes
• In dominant inheritance, only one copy of the abnormal allele is sufficient to cause the disorder