Week 10 Flashcards

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1
Q

Autosomal dominant Pattern

A
  • A pattern of inheritance in which an affected individual has one copy of a
    mutant gene and one normal gene on a pair of autosomal chromosomes.
  • Examples of autosomal dominant diseases include Huntington disease
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1
Q

Autosomal Linkage

A
  • An Autosomal chromosome is any chromosome except for the sex chromosomes.
    (Humans have 44 homologous autosomal chromosomes, or autosomes.)
  • Autosomal linkage refers to inheritance of the genes on a given autosomal
    chromosome.
  • Genes that are located on the same chromosome are
    called linked genes. Alleles for these genes tend to
    segregate together during meiosis, unless they are
    separated by crossing-over.
  • Crossing-over occurs when two homologous
    chromosomes exchange genetic material during meiosis
  • The closer together two genes are on a chromosome,
    the less likely their alleles will be separated by crossingover.
  • Linkage explains why certain characteristics are
    frequently inherited together. For example, genes for
    hair color and eye color are linked, so certain hair and
    eye colors tend to be inherited together, such as blonde
    hair with blue eyes and brown hair with brown eyes
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2
Q

Autosomal recessive pattern

A
  • Autosomal recessive diseases require that the individual have two copies of
    the mutant gene
  • The parents of an individual with an autosomal recessive condition each
    carry one copy of the mutated gene, but they typically do not show signs
    and symptoms of the condition. Autosomal recessive disorders are typically
    not seen in every generation of an affected family.
  • E.g. Cystic fibrosis, sickle cell disease
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3
Q

Epistasis

A
  • In epistasis, the interaction between genes is antagonistic, such that
    one gene masks or interferes with the expression of another.
  • The alleles that are being masked or silenced are said to be hypostatic
    to the epistatic alleles that are doing the masking.
  • Often the biochemical basis of epistasis is a gene pathway in which the
    expression of one gene is dependent on the function of a gene that
    precedes or follows it in the pathway.
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