Genetics and Evolution Flashcards
Homologues
The two copies of each chromosome
What is unqiue about the male sex chromosomes?
They are not a homologous pair. (because one is an x-chromosome and one is a y-chromosome)
An allele in which only one copy is needed to express a given phenotype.
dominant allele
An allele in which two copies are needed to express a given phenotype.
recessive
Homozygous vs. Heterozygous vs. Hemizygous
- Homo
- If both alleles are the same for a given gene
- Hetero
- If the alleles are different for a given gene
- Hemi
- When only one allele is present for a given gene (i.e. male y-chromosome)
One dominant allele and one recessive allele
Complete Dominance
More than one dominant allele
Codominance
No dominant alleles. Heterozygotes have an intermediate phenotype.
Incomplete Dominance
The extent to which a particular gene or set of genes is expressed in the phenotypes of individuals carrying it,
(measured by the proportion of carriers showing the characteristic phenotype.)
Penetrance
Full vs. High vs. Reduced vs. Non Penetrance
- Full Penetrance: 100% with allele show symptoms
- High: Most but not all with allele show symptoms
- Reduced/Low: Some with allele show symptoms, some don’t
- Non-penetrance: a person carrying the allele does not express symptoms
Different manifestations of the same genotype across a populations.
Expressivity
(constant vs. variable)
- Constant: All people with specific genotype express the gene the same
- Variable: People have same genotype, but have many phenotypes
Mendel’s First Law of Segregation
Allele pairs segregate during gamete formation, and randomly unite at fertilization.
List the four basic tenants of of Mendel’s First Law.
- Genes exist in alternative forms
- Each gene has 2 alleles (one inherited from each parent)
- Alleles segregate during meiosis, resulting in gametes that carry only one allele for a given gene
- If two alleles are different, one is is expressed and the other is silent (recessive vs. dominant)
Mende’s Second Law (Law of Independant Assortment)
Alleles of one gene sort into gametes independently of the alleles of another gene.
(Inheritance of one gene does not affect the inheritance of a second gene)
Advantageous vs. Deletarious Mutations
- Advantageous: Positive result from mutations
- Deletarious: Detrimental results from a mutation.
Flow of genes between species through hybrid offspring.
Leakage
Genetic Drift
Change in allele frequencies within a population (overtime) due to chance events.
List and explain two types of genetic drift.
- Bottleneck
- Severe decrease in population size, causing reproductive isolation
- Could be the result of natural barriers or catostrophic events
- Results in a significant decrease in one allele and increase in the other allele.
- May result in in-breeding with small population size
- Founder Affect
- When a new population is formed/founded in a new location
- Allele frequencies can change (from reproductive isolation), resulting in a genetic pool differant than the parent population
- May result in in-breeding with small population size
Ultmately results in a reduction of genetic diversity and increase in certain traits/diseases within a population
In-breeding is the mating of two genetically related indifivuals. Thus, what does inbreeding promote, in relation to alleles.
Promotes homozygosity (homozygous dominant and recessive genotypes)
What are inborn errors of metabolism and why is it important to identify that early in a persons life?
- Defects in genes required for metabolism
- If not diagnosed in a timely manner, can lead to permanent damage from build up of metabolites.