inherited disorders

    Cards (20)

    • What is the main symptom of cystic fibrosis?
      Difficulty breathing
    • How does cystic fibrosis affect the lungs and digestive system?
      It causes thick, sticky mucus to clog the lungs and digestive system
    • What is the life expectancy for individuals with cystic fibrosis?
      It is reduced compared to individuals without the condition
    • What type of allele causes cystic fibrosis?
      A faulty recessive allele
    • How many copies of the faulty gene must a child inherit to be born with cystic fibrosis?
      Two copies, one from each parent
    • What is the genotype of an individual who has cystic fibrosis?
      Homozygous recessive (ff)
    • What genotype will a carrier of cystic fibrosis have?
      Heterozygous (Ff)
    • What is the probability of two heterozygous parents (Ff) having a child with cystic fibrosis?
      25% or 1 in 4
    • What is the probability of offspring from a heterozygous (Ff) and homozygous dominant (FF) parent having cystic fibrosis?
      0% chance
    • What is polydactyly?
      An inherited condition where a person has extra fingers or toes
    • What type of allele causes polydactyly?
      A dominant allele
    • What is the probability of offspring having polydactyly if one parent has the condition?
      50% or 1 in 2
    • What does genetic testing analyze?
      A person's DNA to see if they carry alleles that cause genetic disorders
    • What is antenatal testing?
      Testing done to analyze an individual's DNA or chromosomes before they are born
    • What is neonatal testing also known as?
      The newborn blood spot test
    • What does pre-implantation genetic diagnosis (PGD) involve?
      Testing embryos for genetic variants before implantation
    • What is the process of in vitro fertilization (IVF)?
      Eggs are collected and fertilized in a Petri dish
    • What happens to embryos that do not contain the disorder allele during PGD?
      They are implanted into the uterus
    • What are the key characteristics of cystic fibrosis and polydactyly?
      Cystic Fibrosis:
      • Affects lungs, pancreas, liver, and intestine
      • Caused by a faulty recessive allele
      • Symptoms include difficulty breathing
      • Requires two copies of the faulty gene (ff)

      Polydactyly:
      • Inherited condition with extra fingers or toes
      • Caused by a dominant allele
      • Requires only one copy of the dominant allele (PP or Pp)
    • What are the types of genetic testing and their purposes?
      Types of Genetic Testing:
      1. Antenatal Testing: Analyzes DNA before birth
      2. Neonatal Testing: Newborn blood spot test for early detection
      3. Pre-implantation Genetic Diagnosis (PGD): Tests embryos for genetic disorders before implantation
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