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