Genetic disorders and diagnoses

Cards (74)

  • What is cystic fibrosis classified as?
    A homozygous recessive genetic disorder
  • What is the role of the CFTR protein in cystic fibrosis?
    It regulates chloride ion transport in cells
  • How does the genotype of parents affect the inheritance of cystic fibrosis?
    Both parents must be carriers to inherit
  • Why do individuals with cystic fibrosis require a higher energy diet?
    Thick mucus reduces digestive enzyme release
  • What is the purpose of the newborn heel prick test?
    To screen for cystic fibrosis
  • What is Huntington’s disease classified as?
    A dominant genetic disorder
  • At what age do symptoms of Huntington’s typically manifest?
    Between 30 and 50 years old
  • What neurotransmitter is lacking in Huntington’s disease?
    GABA
  • How does the inheritance of Huntington’s disease differ from cystic fibrosis?
    Huntington's can be inherited from one parent
  • What causes Down’s syndrome?
    An extra copy of chromosome 21
  • What is non-disjunction in the context of Down’s syndrome?
    Error in meiosis leading to an extra chromosome
  • What is the significance of familial pedigrees in genetics?
    They record inheritance patterns of disorders
  • What are the limitations of genetic pedigree diagrams?
    They do not definitively show carriers
  • What is the role of artificial clotting factors in haemophilia treatment?
    To help stop bleeding in patients
  • What is the method used to assess clotting time in haemophilia patients?
    A blood test
  • What is the phenotype of a carrier for a recessive disorder?
    Non-affected/non-sufferer phenotype
  • What does a Punnett Square illustrate in genetics?
    Possible offspring genotypes from parents
  • How can genetic diagrams help in predicting disease inheritance?
    They show allele combinations from parents
  • What is the definition of a gene?
    A sequence of bases coding for proteins
  • What is the difference between homozygous and heterozygous genotypes?
    Homozygous has identical alleles, heterozygous has different
  • What does the term 'sex linkage' refer to in genetics?
    A gene carried on the X chromosome
  • What is the phenotype of an affected individual in a recessive disorder?
    They exhibit the disease phenotype
  • What is the significance of the ratio in genetic diagrams?
    It indicates probabilities of offspring traits
  • How does the inheritance of a recessive disorder differ from a dominant disorder?
    Recessive requires both parents to be carriers
  • What is the role of genetic screening in inheritance patterns?
    It provides definitive results on carrier status
  • What is the expected outcome of a genetic test for Huntington’s disease?
    Confirmation of the diagnosis
  • What is the importance of understanding genetic disorders in health?
    It aids in diagnosis and treatment planning
  • How can familial pedigrees help in understanding genetic disorders?
    They illustrate inheritance patterns across generations
  • What is the significance of the chloride ion in cystic fibrosis?
    It affects mucus consistency in the body
  • What is the expected chance of being an unaffected carrier in cystic fibrosis?
    50% chance of being an unaffected carrier
  • What is the role of the sweat test in cystic fibrosis diagnosis?
    It measures salt concentration in sweat
  • How does the inheritance of haemophilia differ from other genetic disorders?
    It is sex-linked and primarily affects males
  • What is the impact of mutations in oncogenes?
    They can lead to uncontrolled cell growth
  • What is the definition of a carrier in genetics?
    One allele is recessive for a disorder
  • What is the significance of understanding genotype and phenotype in genetics?
    It helps predict traits and disorders
  • How do genetic diagrams assist in predicting offspring traits?
    They show allele combinations from parents
  • What is the role of genetic testing in diagnosing disorders?
    It confirms the presence of genetic conditions
  • What is the expected ratio of unaffected to affected offspring in Huntington’s disease?
    1:1 ratio of unaffected to affected
  • What is the significance of the Punnett Square in genetics?
    It predicts offspring genotype probabilities
  • How does the inheritance of Down’s syndrome occur?
    Through non-disjunction during meiosis