Mutations
List the four trans mutations and the four cis mutations
trans = silent, missense, nonsense, frameshift
cis = promoter, 5'UTR/3'UTR, splice recognition sequences, operator site/regulatory element
What is the end result of meiosis?
4 haploid cells (n) are produced that are genetically different from the parent cell
DNA sense 5' ATG GCG TAC CGC 3'
DNA Template = ?
mRNA = ?
DNA Template = 3' TAC CGC ATG GCG 5'
mRNA = 5' AUG GCG UAC CGC 3'
What is XXY called?
Kleinfelters
What are the 2 Autosomal Recessive and 2 Autosomal Dominant diseases you need to know?
Cystic fibrosis & Sickle cell anemia
Achondroplasia & Huntington's
Where does a mutation occur if a protein is produced, but in insufficient quantities?
Cis
What is the end result of mitosis?
two daughter cells are produced that are genetically identical to the parent
What type of mutation is this?
mRNA 5' AUG CGC UAC CAC 3'Mutated 5' AUG CGC AUA CCA C 3'
Frameshift
What is Turners?
X
What is 'A' and 'a' in autosomal dominant?
A is a GOF allele
a is a normal allele
a protein is made, but is not working correctly. What mutation is causing this?
Missense
Where do tetrads occur?
Prophase I of meiosis
What type of mutation is this?
5' AUG UAC GAG CGA 3'
5' AUG UAU GAG CGA 3'
Silent
What is XYY
Jacobs
What is 'A' and 'a' in autosomal recessive?
A is a normal allele
a is a LOF allele
what are 3 trans mutations where there is a single base pair substitution?
silent, nonsense, missense
compare sister chromatids and homologous chromatids
homologous chromatids = one chromatid from each parent - genetically different
sister chromatids = result of duplication - these are identical to one another
What type of mutation is this?
5' AUG UAC UAU GAG 3'
5' AUG UAC UAA GAG 3'
Nonsense
If nondisjunction happens in Anaphase I, what do the gametes look like
There are no normal gametes. Two have too much DNA and two have not enough
A man's father sickle cell anemia. His mother does not and is not a carrier. The man has children with someone who has the disease. What is the chance that they will have 3 kids in a row that are carriers? What is the chance that they will have a child that has 2 normal alleles?
1/8
0
describe what happens in a cis promoter mutation
the transcription rate can either increase or decrease
When do homologous chromatids pair up? What are these pairs called?
In metaphase I of meiosis. Tetrads
What type of mutation is this?
5' AUG UAC UAU GAG 3'
5' AUG UAC UAU GAC 3'
Missense
If nondisjunction happens in anaphase II, what do the gametes look like?
There are two normal gametes, there is one gamete with not enough DNA, and there is one gamete with too much DNA
Compare Independent Segregation and Independent Assortment
Independent Segregation = Parents posses two alleles of a single trait. Each only pass one of these on to their offspring. These alleles segregate independently of one another
Independent Assortment = The alleles of two different traits assort independently of one another due to crossing over