2/13 - HBIO370 Notes
Basis of Inheritance
Mutations:
c=coding DNA
g= genomic DNA
m= mitochondrial DNA
r= RNA
p= protein
-DNA is very stable
RNA - is on the delicate side
-Codon location -> EG: Gly233Phe
What does R117H + F508 Delta mean?
R- RNA
You cannot predict phenotype by just looking at the mutation
SNP Mutations
Polymorphism - replacing deleting, adding a nucleotide base
-Synonymous/silent mutation - codon changed but AAis the same
-A triplet codes for Phenylalanine - a synonymous snip - does not change protein structure
Nonsynonmoius mutation - alters protein
Missense - conservative if A is replaced with a similar one or conservative if A is diff
Nonsense if a STOP is introduced - truncated
Anthropomorphic - study of mankind, and anything that is man-shaped
T7- 7 thymines adding on the splicing side
What are the effects of insertion/deletions/substitutions
CAG is the triplet in huntingtons that repeats
DNA polymerase can easily add another triple t- bc sequence is the same before and after
Reverse Transcription
-Some are thought to believed (originated: from Retroviruses)
HIV - 2 RNA strands -> has reverse transcriptase enzyme
-recognizes surface proteins
-HIV injects material -> host cell (helper T cells)
RNA is used to produce DNA (RNA Reverse transcribed -> DNA)
DNA-> integrated into genome
Long Interspersed Nuclear Elements (LINE)->
Certain w/ Insertion sites -> Have a higher likelihood of being mutated
Transposons - have short repeated sequences
Clotting factors - have sequences
Transposons - can randomly activate on a genome and move itself into clotting factor 8, CF9… recognizing insertion sites
Philadelphia
Structural Polymorphisms
CP450 -
Contains a heme cofactor
-involves ETC steroid hormone metabolism, drug metabolism
Tylenol breakdown, nicotine, (all the ian drugs, ) -> alcohol
-Used for suicide -> causes liver failure/death in a matter of days
Philadelphia CML
Philadelphia chromosome -> causes leukemia
-> recognize chromosomes 9 and 22 (healthy individual will have one)
-translocation from 22 to 9
Housekeeping gene - turned on (normally present in all cells)
ABL gene -> is oncogene (cancer-causing)
-
Robertsonian TRanslocations
Breakage of 2 acrocentric chromosomes near centromere -> join q arms
-2 p-arms are lost, long-arms are joined together
-functionally balanced but caused meiosis issues
Long-arm of chromosome 14 is fused with long arm of chromosome 21 - Robertsonian
Q-arm loses the centromere -> Does not serve through meiosis/mitosis
P-arm stays intact
How to split three chromosomes into 2?
-Cannot split 3 -> 2 in a balanced way
D5- Trisomy 21
Monosomy 21 - one chromosome from mom
One copy of 14 - not compatible with life
13-18-21 - Common trisomies -> usually in textbooks
T18 - is viable but only a small
80% of fetuses with DS will lead to miscarriage