Chapter 12 Flashcards
recessive disorder
a medical condition that will not occur when an organism possesses a single functional allele for a given trait.
autosomal recessive disorder
a recessive dysfunction caused by a faulty allele on an autosome (non-sex chromosome)
carrier
a person who does not suffer from a recessive genetic debilitation, but who carries an allele for the condition that can be passed along to offspring.
aneuploidy
A condition in which an individual organism has either more or fewer chromosomes than is normally found in its species’ full set
autosomal dominant disorder
a genetic disorder caused by a single faulty allele located on an autosomal (non-sex chromosome)
deletion
a chromosomal condition in which a piece of a chromosome has been lost. Occurs when a chromosomal fragment that breaks off does not rejoin any chromosomes.
dominant disorder
genetic conditions in which a single faulty allele can cause damage, even when a second, functional allele exists.
Down syndrome
a disorder in humans in which affected individuals usually have three copies of chromosome 21 rather than the standard two. Individuals with this syndrome have short stature, shortened life span, and low IQ.
inversion
a chromosomal abnormality that comes about when a chromosomal fragment that rejoins a chromosome does so with an inverted orientation.
nondisjunction
a failure of homologous chromosomes or sister chromatids to separate during cell division.
pedigree
a familial history of genetically transmissible conditions; generally takes the form of a diagram.
polyploidy
a form of sympatric speciation in which one or more sets of chromosomes are added to the genome of an organism. Human beings cannot survive in a polyploid state, but many plants flourish in it. Polyploids is a means by which speciation can occur (most often in plants) in a single generation
translocation
the swapping of fragments by nonhomologous chromosomes, resulting in gene sequences that are out of order on both chromosomes.
Example of recessive disorder
reg-green color blindness
Example of a autosomal dominant disorder
Huntington disease