ch 12 - Genetics and Evolution Flashcards
(72 cards)
chromosomes
organization of all genes and a large supply of noncoding DNA
alleles
alternative forms of genes
genotype
genetic combination possessed by an individual
phenotype
manifestation of a given genotype as an observable trait
homologues
two copies of a chromosome possessed by each human and applicable to every chromosome except the male sex chromosomes XY.
locus
location of a gene on a chromosome; used to describe a gene
hemizygous
genotype description in which only one allele is present for a given gene
complete dominance
only one dominant and one recessive allele exist for a given gene; presence of one dominant allele will mask the recessive allele
codominance
when more than one dominant allele exists for a given gene. Both genes are expressed (AB blood type)
incomplete dominance
when a heterozygote expresses a phenotype that is intermediate between the two homozygous genotypes. Red flower, white flower = pink flower
penetrance
population measure defined as the proportion of individuals in the population carrying the allele who actually express the phenotype
full penetrance
100% of inds with the allele show phenotype
expressivity
varying phenotypes despite identical genotypes
constant expressivity
all inds with a given genotype express the same phenotype
variable expressivity
inds with same genotype may have different phenotypes
Mendel’s First law (of segregation)
-genes exist in alternative forms (alleles); -organism has 2 alleles for each gene, one inherited from each parent; -2 alleles segregate during meiosis, resulting in gametes that carry only one allele for any inherited trait; -if two alleles for an organism are different, only one will be fully expressed and the other will be silent
Mendel’s Second Law: Law of Independent Assortment
states that inheritance of one gene does not affect the inheritance of another gene
mutation
change in DNA sequence which results in mutant allele
wild-type
alleles that are considered normal to natural and are ubiquitous in the study population
mutagens
substances that can cause mutations
transposons
elements that can insert and remove themselves from the genome and can cause mutations
Point mutations review
occur when one nucleotide in DNA (A, C, T, or G) is swapped for another. Categories are silent, missense or nonsense
silent mutations
occur when the change in nucleotide has no effect on final protein synthesized from the gene; most commonly when the change is at the third nucleotide in the codon because of the degeneracy (wobble) in genetic code
missense mutations
occur when the change in nucleotide results in substituting one amino acid for another in the final protein