11.3 Flashcards
(6 cards)
What are autosomal dominant & recessive and sex-linked dominant & recessive disorders?
Autosomal disorders are disorders that are from the body chromosomes, dominant requires someone to have only one copy of the affected allele, while recessive, which can skip generations, requires someone to have both copies of affected allele.
Sex-linked disorders are affected by the sex chromosomes, people with XY chromosomes can be more likely to get these disorders sometimes, sex-linked dominant requires someone to have one copy of the affected allele, recessive requires someone to have both or only have one if they have XY rather than XX chromosomes for them to be affected by the disorder.
What is a carrier?
A heterozygote, the dominant allele carries for the recessive allele, which can either not make the protein or make a malfunctioning one.
What is a pedigree?
A diagram that shows generations in an experiment.
What are gain of function and loss of function mutations?
Gain of function is when an allele codes for the protein to do something other than what it is supposed to do; loss of function is when the allele can’t code for the protein it is supposed to.
Why are tortoiseshell cats most commonly female?
A cat has to have two X alleles to develop a tortoiseshell pattern; one for orange and one for black. Since male cats usually only have one X allele, they can only have one of the two colors, black or orange.
How would genotypes be assigned to individuals in a pedigree?
If a disorder skips a generation before returning, the affected individuals all have recessive genotypes, and the parents who are not affected have heterozygous genotypes. If the disorder does not skip the generation and many have it, then all the affected people have a dominant allele. If a parent with a dominant disorder has a child without the disorder, then they and their partner have heterozygous alleles.
