Summary Genes & Genomes

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Summary - Genes & Genomes

  • 1 Week 1

  • What is this weeks theme?
    Pedigrees and disease inheritance
  • 1.1 Lecture

  • Name some important reasons why genetic diagnoses are important
    Have an explanation, limiting diagnostic circuit, providing treatment, prognosis, information about the disease etc.
  • What does consanguineous mean?
    'having the same blood' or in short a common ancestor
  • What is a pedigree?
    A family tree showing symbols to visualise generations, sexes and whether or not being affected by a familiar disease
  • In what order are family members drawn in a pedigree?
    First the patient, partner, children, parents, siblings, nieces/nephews, grandparents/grandchildren, aunts/uncles, cousins etc. Later the partners family may also be included
  • How does one recognise dominant inheritance?
    Many family members having similar symptoms on one side of the family
  • What is genotype-phenotype correlation?
    The correlation between specific mutations and their phenotype. For example knowing that mutations in bp 0-150 have effect X and mutations in bp 150-300 have effect Y etc.
  • What are mosaic mutations?
    Dominant mutations that are not somatic in parents, but do occur in newborns. These have occured in oocytes or sperm cells, meaning they have effect after fertilisation.
  • What level of dominance do most mosaic mutations have?
    These are usually dominant mutations
  • How does one recognise recessive inheritance?
    Affected children are usually born to unaffected parents. Both parents are carriers, 2 carrier parents have a 25% chance to have an affected child
  • What is a specific feature of X-linked recessive inherited diseases?
    Mostly boys are affected, females can be carriers
  • Why is it possible for women to have some symptoms of X-linked recessive diseases?
    Due to the Lyon hypothesis, which states that each cell inactivates one of the X-chromosomes randomly. So roughly 50% of their tissue has an effective mutation
  • How can mosaic mutations play a role in X-linked diseases?
    These diseases can develop through mosaic mutations in the germline cells, meaning this mutation only occurs in oocytes
  • How does mitochondrial DNA pass on from parents to children?
    Mostly from the mother, since oocytes have the most mitochondria
  • How can symptoms vary between different patients suffering from diseases caused by mitochondrial DNA mutations?
    These depend on the number of affected mitochondria in the oocyte. Each oocyte has multiple different mitochondria, if someone suffers from this disease, the percentage of affected vs healthy mitochondria may differ, meaning that the symptoms differ.
  • What does multifactorial inheritance mean?
    Diseases caused by a multitude of factors, including genetics and environmental
  • What is a polygenic disease?
    A disease caused by mutations in multiple genes
  • What risks do family members have on the topic of multifactorial inheritance diseases?
    Usually only very close relatives have an extra risk. Since these are the only ones with both similar genetic and environmental factors
  • How does a threshold work with multifactorial diseases?
    Usually there are multiple factors and a minimum of a specific amount is required for seeing symptoms. This amount is a threshold
  • What does reduced penetrance mean? Name an example
    When a mutation is inherited, but this person does not have symptoms. For example BRCA mutations raise the risk of breast cancer, but not every person with the mutation does get breast cancer
  • What is a phenocopy?
    Copy of the phenotype, so meaning that different diseases result in the same phenotype
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