Exam 2 Content Flashcards
Who is Gregor Mendel?
Austrian monk who lived in the 1800s
The first person to come up with a quantitative way to deal with inheritance and come up with a mechanism of how it worked
what are alleles?
Alternative forms of genes
Different alleles available for each heritable characteristic
For each inherited characteristic a diploid organism has 2 alleles at each locus/each gene (one allele from each parent)
What is a locus?
Gene for a trait exists in a location (on homologous chromosomes)
What is the difference between homozygous and heterozygous chromosomes?
If the alleles are identical they are homozygous and true breeding(RR or rr)
If the alleles are different they are heterozygous (Rr)
What is a phenotype?
the physical appearance of an organism, more specifically what traits are expressed in an organism
what is a genotype?
the actual genetic makeup of an organism
what is incomplete dominance?
F1 and F2 have a intermediate between (1:2:1 phenotypic and genotypic ratio)
what is Epistasis?
One gene masks the effect of the other
1 gene has veto power
Biochemically one gene is further in the pathway than the other
Example: aa is epistatic over the b gene
what is Polygenic?
Multiple genes interacting
Human height
5 - 10 loci contribute to phenotype
Melanin is determined by 3 genes
Race is social construct not biological
what is Pleiotropy?
Single gene has many phenotypic characters
Sickle-cell anemia which leads to a complex set of outcomes
what is Penetrance?
Percent of individuals carrying the gene and showing the expected phenotype
Retinoblation (incomplete penetrance)
Not everyone that has the dominant allele has that problem
what is Expressivity?
Degree of which a gene is expressed
Mild, moderate, or severe
what are the 2 single gene defects?
- Autosomal (22 autosomes)
Can be dominant or recessive - Sex-linked (1 per sex chromosome)
Can be dominant or recessive
how to read a human pedigree?
Circles = females
Squares = male
Filled in = phenotype of interest is present
Open = disease is not present
what are the characteristics of autosomal recessive diseases?
Parents are generally normal (non-expressive)
Siblings are the only affect relatives
Males and females have it at equal proportion
Parents are consanguineous
- Same blood line
what are the characteristics of Autosomal Dominant diseases?
You only need one bad allele
The affected individual will have ½ normal and ½ affected
Normal children of affected individuals will have normal kids
Males and females are affected in the same proportion
Each sex is equally likely to transmit it
What are sex-linked diseases?
Usually X linked
Females are homogenetic sex (XX)
Males are the heterogenetic sex (XY)
what are the characteristics of sex-linked diseases?
Higher in males than females
Phenotype is never transmitted from father to son
what is Eugenics?
Find an undesirable trait and eliminate them
Genetically modified baby
Screen eggs ahead of time
what did Chargaff discover?
Found A=T and C=G
what did Watson and Crick discover?
Proposed double-stranded helix
3 billion base pairs
what did Meselson and Stahl discover?
15N (heavy) and switch to 14N (light)
Conservative ~ original is preserved and new ones are made
Dispersive ~ mix of old and new DNA
Semiconservative ~ old DNA acts as a template
1 division by centrofusion
Has 1 strand of 15N and 1 strand of 14N
what occurs in Replication?
1 strand of DNA is the template strand
Unzips DNA
Uses DNA Helicase powered by ATP
Nucleotides are linked together by covalent bonds
what is Fidelity?
The chance on miscopied DNA for base pairs is 1 in 10^6 bp
Proof-reading enzyme
Repair of mismatch DNA enzyme
Lowers overall rate to 10^10 bp
what is Central Dogma?
Information from DNA is utilized to make proteins
DNA is transcribed to mRNA and then translated into proteins
- DNA is the blueprint for genes
what is transcription?
The DNA template is recorded
3 different steps
what is translation?
the process by which a cell makes proteins using the genetic information carried in messenger RNA (mRNA). The mRNA is made by copying DNA, and the information it carries tells the cell how to link amino acids together to form proteins.