Genetic Variation Flashcards
Allele
One of a pair of genes occupying a specific location on a chromosome that control the same trait
What is a locus
Specific location on a chromosome
What is a homozygous allele
Same alleles for the same trait for both members of a chromosome pair
Heterozygous alleles
Different alleles for the same trait on both members of a chromosome
What is a Punnett square
Diagram used to predict the genotype of A genetic cross
Polymorphism?
Multiple phenotypes in the same population of species
What does it mean when there are multiple forms of the same allele occurring at the same loci
There is a polymorphism
What type of cell mutation can be transmitted from one generation to the next
Germline
What type of cell can lead to cancer cell formation
Somatic
What are the two types of small scale mutations
Single gene and deletions/insertions
What are The three types of large scale mutations
Duplications, promoter mutations, splice site mutations
What do you missense mutation’s produce
Change in a single amino acid
What do you deletions or insertions produce
Extra or missing amino acids
If a deletion or insertion is not a multiple of three what happens?
Frameshift
Are gain of function mutations usually in dominant or recessive diseases
Dominant
Are loss of function mutations usually seen in dominant or recessive diseases?
Recessive
What occurs in dominant negative mutations
The abnormal protein product interferes with the normal protein product
NonIonizing Radiation
Does not form charged ions but can move electrons from the inner to outer orbit within an atom. This makes the atom chemically unstable
What is UV radiation an example of
Nonionizing radiation
What does UV radiation cause
Formation of covalent bonds between adjacent pyrimidine bases like cytosine or thymine
Are larger or smaller genes more likely to experience mutations
Larger
What are mutation hotspots
Region of DNA that exhibits an unusually high propensity to mutate
What are the most common group of single gene diseases
Genetic disorders of Human hemoglobin
How many beta genes and alpha genes does the normal person have of hemoglobin
Two beta and 4 alpha
