Chapter 11 Lesson 3 Flashcards
What is the definition of autosomal dominant?
A trait that is autosomal is on the autosomes, when it is dominant, it only takes one of the dominant alleles for this to be present (Ex: AA or Aa)
What is the definition of autosomal recessive?
A trait that is autosomal is on the autosomes, when it is recessive, it takes two recessive alleles, both being the same (Ex: aa)
What is the definition of sex-linked dominant?
A trait that is sex-linked is on the sex chromosomes, when it is dominant, it only takes one of the dominant alleles for this to be present (Ex: AA or Aa)
What is the definition of sex-linked recessive?
A trait that is sex-linked is on the sex chromosomes, when it is recessive, it takes two recessive alleles, both being the same (Ex: aa)
What is the definition of a carrier?
Someone whose genes carry the trait without showing it, this is always going to be a heterozygous allele (Ex: Aa)
What is the definition of x-inactivation?
When females have two x chromosomes, they turn into barr bodies, and essentially “shut down”
What is the definition of a pedigree?
A way to trace genes, and deseises throughout a family tree
What are the main differences between autosomal dominant and autosomal recessive?
Autosomal dominant traits are traits on an autosome that have at least one dominant allele (A_), while autosomal recessive traits are traits on an autosome that have both recessive alleles (aa)
What is a gain of function mutation?
A gain of function mutation is a mutation that causes a gene to gain an extra function that it does not normally have which can lead to too much of something being made
What are some things you look for to “rule out” different modes of inheritance in pedigrees?
Rule out recessive/dominant. . .
- Are there unaffected parents with an affected child?
- Are there affected parents with an unaffected child?
Rule out sex-linked. . . If its recessive -- - Are more males than females affected? - Do affected females have affected fathers? - Do affected mothers have affected sons? If its dominant -- - Do affected males have all affected daughters?
What are the main differences between sex-linked dominant and sex-linked recessive?
Sex-linked dominant traits are traits on an sex chromosome that have at least one dominant allele (A_), while sex-linked recessive traits are traits on an sex chromosome that have both recessive alleles (aa)
What are the main differences between autosomal traits and sex-linked traits?
Autosomal traits are traits on an autosome, while sex-linked traits are traits on an sex chromosome
What is a loss of function mutation?
A mutation where a gene loses a function which leads to it not producing enough of something, which can cause disabilities and disorders