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Who was the first to study inheritance? What was his term for genes?
Mendel, Heredity factors
Genotype
allelic genetic make up
Phenotype
Observable physical expression of genes
Dominant
every generation shows the trait
Homozygous
two identical alleles for a trait
Heterozygous
different alleles for a given gene
Codominant
AB blood types and O caused by multiple alleles
Incomplete dominance
see 3rd trait, no dominant trait
Polygenic inheritance
height in humans, continuous variation
Pleiotropy
sickle cell, cystic fibrosis, affects others
Sex-linked
traits controlled by genes located on X chromosome
Autosomal
chromosomes 1-22
Karyotype
picture of chromosomes
Cross a homozygous dominant purple flower plant with a recessive white flower plant to the F2 generation
Phenotypic ratio 3 purple:1 white
Using the above information and R=round seeds, r=wrinkled seeds. Cross 2 double heterozygotes. What is the phenotype and ratio?
Gamete combos: PR, Pr, pR, pr 9:3:3:1
What can a pedigree explain?
X-linked, dominant if seen in all generations
What is a genetic map?
Distances between gene loci measured in terms of recombination frequency
What is independent assortment?
During meiosis, homologous chromosomes separate.
When will allele pairs assort independently of one another?
When on different chromosomes
What is crossing over?
Genetic exchange between 2 homologous chromosomes
What is nondisjunction?
Chromosomes fail to separate during meiosis, abnormal number of chromosomes
Turner syndrome
monosomy X
Klinefelter syndrome
XXY
Down syndrome
trisomy 21
Name disorders that are found on the X chromosome. Dominant or recessive?
Hemophilia & colorblindness, recessive
What is Huntington’s disease?
Dominant, neurodegenerative that appears in midlife after kids Cystic fibrosis
What is the SRY gene?
Maleness, if deleted then female
Where does your mitochondrial DNA come from?
Mother, all siblings have same mtDNA
What are SNPs used for?
Forensics, distinguish between 2 suspects
What is the central dogma of biology?
DNA RNA proteins
Name the 2 main steps of gene expression and where in the cell each occurs.
Transcription (nucleus) & translation (cytoplasm)
tRNA
carry amino acids to ribosome
miRNA
binds directly to mRNA to prevent translation
Splicing
removing introns, addition of poly A tail, 5’ cap
What is a codon?
3 bases of mRNA, codes for an amino acid, blocks of info
Pro Translation and Transcription
translation of mRNA begins before transcription is complete and no introns or exons.
Euk Translation and Transcription
transcription and modification of mRNA is complete before translation begins.
What enzyme performs transcription?
RNA polymerase II
For eukaryotes, what is needed for the transcription initiation complex?
Binding of transcription factor to TATA box, recruitment of more TF and polymerase II
What occurs to a protein if the DNA is mutated?
May alter so that it no longer functions.
Nonsense
stop, shortens protein
Where do DNA-binding motifs interact with a DNA molecule?
Major groove of DNA helix
What is an operon?
cluster of functionally related genes that are regulated together, encode single mRNA molecule
List the order of gene locations in an operon
Regulatory genes, promoter, operator, genes
Which cells contain operons?
prokaryotes
What would occur if there was a mutation in the lac repressor?
Would waste energy producing enzymes in the absence of lactose.
What would occur if there was a mutation in the lac operator?
Repressor may not bind Promoter? Polymerase would not bind
Why are trp operons needed in a bacterium?
Make tryptophan
What are nucleosomes?
Histones that are tightly wound with DNA, basic unit of chromatin
Where are enhancers found in relation to a gene?
Upstream from a gene
If DNA has methylated histones, what does that indicate?
inactive
If a protein is unbiquinitinated, what does that indicate?
Targeted for degradation
To degrade mRNA, what must be done to the mRNA?
Remove 5’ cap, remove poly A tail, 3’ end recognition sites