CF Flashcards
CF has no ___gene
candidate gene
Romeo(1985) asked the question how does the # of consanguineous marriages amount CF children compare to the # of consanguineous marriages in the population?
Population is from 1910-1962 when you needed permission from the Pope to marry your cousin. 500,000
Found a 3:1 ratio of CF
this supports the single locus hypothesis
___was one of the 330 probes that were polymorphic ; Human genomic DNA that is complementary to the probe comes in two sizes after the digestion step____
Lam4-917- this means that fragments in a gel that were complementary to these probes were different sizes in different people
6.3Kb and 5.3Kb
What is the difference between the hindlll cut site in pea length then CF
Hindlll in peas were linked closer then the one in CF. SO it was far enough away that int all CF-causing alleles were inherited with it
Since in CF we don’t have a similar speiecs like peas has we can’t look for the candidate gene? What do we do? What is the result?
Chromosome jumping
1. Get human DNA and cut it with Mbo 1
2. Add supF to tape back together
3. Use restriction enzyme EcoR1 to cut again
4. all cutes without SupF die, clone the peiecs that are alive into bacteria(library)
5. Screen with Lam4-917 probes
cut down distance from 15,000,000bp to 130
results in a CFTR, cystic fibrosis transmembrane conductance regulator
What is the mutation that is present in one in 25 Caucasian Canadians. And 70% of CF patients have? What happens when a CFTR protein has this?
delta F508
When CFTR portein with delta F508 mutation reaches the ER misfolding occurs and marks the protein for degradation as a result delta F508 never makes it to the cell membrane. This is seen by a deletion of 3 base pairs
What is Contraction in slipped strand mispairing? What is expansion
the 3’ comlementary stand has a loop
the 5’ stand has a loop
Why did Zienlenski use Microsatellites
Msat alleles differ in repeat number ans therefore in length. Msat are a repeat of TA and CA in an intron
The most correlated number of TA allele msat in CF is?
30,31,32
Why do we call chromosomes Linkage Groups?
we could genotype you and your child and look at msat loci to see if she got yours our your parterners.
Explain image pg. 5 on lecture 7
Understand the procedure and which cell to pick to not get CF
