Evolution and Genetics Flashcards
Chromosomes
Contain genes in a linear sequence
Carrier
Holds a recessive allele that is not expressed
Alleles (types)
Alternative forms of a gene
1) Dominate alleles
2) Recessive alleles
Dominant alleles
Require only one copy to be expressed.
Recessive alleles
Require two copies to be expressed.
Genotype (types)
A combination of alleles one has at a given genetic locus.
Types:
1) Homozygous
2) Heterozygous
3) Hemizygous
Homozygous
Having two of the same allele
Heterozygous
Having two different alleles
Hemizygous
Having only one allele (i.e. male-sex chromosome- X)
Phenotype
An observable manifestation of a genotype.
Patterns of dominance
Patterns:
1) Complete dominance
2) Codominance
3) Incomplete dominance
Complete dominance
One dominate allele and one recessive allele. Dominant will mask the recessive allele.
Codominance
Has more than one dominant allele.
*co-parenting: still have both parents; still have full expression of each genes in certain areas (some parts completely white, some parts completely black)
Incomplete dominance
Has no dominant alleles; heterozygotes have intermediate phenotypes.
Results in a mixture of the two alleles (i.e., pink flowers out of red and white).
*could not be completely white or completely red=incomplete color change
Penetrance
A population measure defined as the proportion of individuals in the population carrying the allele who actually expresses the phenotype (with a genotype who express the phenotype)
probability that given a genotype, a person will express the phenotype.
Full Penetrance- 100%
High Penetrance- most but not all
Reduced/low/ nonpenetrance- fewer sequence repeats
Expressivity
Refers to the varying phenotypic manifestations of a given phenotype.
Constant- everyone with a given genotype, express the same phenotype
Variable- same genotype, variable phenotypes
Penetrance and Expressivity overview
Mendel’s first law
Mendel’s first law, of segregation
States that an organism:
1) Genes exist in alternative forms (alleles)
2) Has two alleles for each gene; one inherited from each parent.
3) Which segregate during meiosis resulting in gametes that carry only one allele for a trait (Anaphase 1)
4) if the 2 alleles are different only one will be expressed- dominant
Mendel’s second law
Mendel’s second law, of independent assortment
States that the inheritance of one gene does not affect the inheritance of another gene
Daughter strand held to parent strand by centromere (together known as sister chromatid). During Prophase 1, homologous chromosomes pair up to form tetrads where they exchange genetic material (recombination).
PS
1st and 2nd law of Mendel do what to genetic diversity?
Increase diversity
Gene pool
All of the alleles in a given population
Mutations def and types
Changes in the DNA sequence. Multiple types:
1) Point mutations
2) Frameshift mutations
3) Missense mutations
4) Nonsense mutations
Mutagens are
substances that cause mutations
Transposons
insert or remove themselves from the genome.
if it is inserted in the middle of the coding sequence, the mutation will disrupt that gene.
Point mutations
A nucleotide mutation that involves the substituting of one nucleotide for another.
Leads to silent mutations in wobble codon.
Missense mutations
Results in the substitution of one amino acid for another.
Nonsense mutations
Result in the substitution of a stop codon for an amino acid.
Frameshift mutations
Moving the three-letter transcriptional reading frame by inserting or removing a codon. Often causes a misfolded protein