HBIO370

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 



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