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Genetics
Genetics
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- What is DNA?
- A nucleic acid that generally is double-stranded and helical (double helix)
- Biomolecule containing the genetic information for cell growth, division, and
function
- Found in nucleus (and also in mitochondria [mt DNA])
- Divided into functional units called genes
- Genes provide instructions
- Blueprints for heredity
- Phosphate group – sugar – nitrogenous bases (ATCG)
- Nitrogenous bases
- Follow Chargaff’s Rule (Base pairing rule)
- Adenine = Thymine
- Cytosine = Guanine
- OTPs lmao
- We have differences due to the difference in order of those bases
-
Two hydrogen bonds Three hydrogen bonds
- PROCESS
- Enzyme helicase unzips DNA
- Forms replication fork
- PROCESS
- RNA polymerase binds to promoter region
- DNA double helix unwinds and opens inside
- During elongation, slides along DNA strand
- Complementary bases pairs up
- RNA polymerase leaves in 3’ ends of the growing RNA molecule
- When polymerase reaches the terminator region, the mRNA
transcript is complete
- Transcript disassociates from DNA
- mRNA strand contains exons and introns
- Exons = coding section
- Introns = non-coding section
- Intron splicing occurs to remove non-coding introns
- Performed by spliceosome
- Mature mRNA strand is formed, leaving nucleus and entering
cytoplasm for translation
- Translation
- Initiated by the formation of 30S ribosomal subunit, formyl methionyl
tRNA, and mRNA
- PROCESS
- 30s ribosomal subunit, formyl-methionyl tRNA (starting codon),
and mRNA bind together
- 50s ribosomal subunit joins the complex protein
- *composes of 3 sites: P site (center, peptidyl), A site (right,
acceptor), E site (left, exit)
- Mutation
- Change in the nucleotide sequence as a result of a failure of the system to revert
the change
- Copying mistakes during cell division
- Occurs during DNA replication
- Can be categorized as germline or somatic
- Germline: occurs in the gametes (sex cells) can be passed onto offspring
- Somatic: occurs in body cells, can’t be passed on
- 2 major parts of mutation
- Point mutation
- Single based mutation
- Change in 1 nucleotide in the sequence
- I.e. sickle cell anemia
- TYPES
- a. Missense mutation
- Change in one DNA base pair that leads to an incorrect
amino acid to be placed
- I.e. from AUG to AUC so it changes protein
- b. Silent mutation
- Change in DNA bases that have no effect on the amino
acids
- They code for the same protein
- c. Nonsense mutation
- The altered DNA sequence prematurely signals the cell to
stop building the protein
- Frameshift mutation
- Genetic mutation caused by a deletion or insertion which alters how the
DNA is read
- Adds or deletes a nucleotide
- TYPES
- a. Insertion
- Changes the number of DNA bases in a gene by ADDING
a piece of DNA
- An extra nucleotide is added into the sequence
- I.e. beta-thalassemia (haha what about alpha and omega)
- b. Deletion
- Removes a piece of DNA
- I.e. cystic fibrosis
GENETICS
- The study of heredity and variation of inherited characters
- Mechanisms and processes involved in heredity
- Affects the traits expressed on a person
- Heredity – passing of traits to offspring
- Traits – distinguishing quality of a person, subset of character
- Character – feature that is described
- *main factor of genetic variation: mutation
- Gregor Medel: Father of modern genetics
- Pioneer of modern genetics
- An Austrian monk
- Used Garden Peas and bred them … hahaha bred
- Discovered the basic principles of genetics
- Why garden peas?
- Easy to grow, hybridize
- Short lifespan, grows quickly
- Produces lots of offspring
- Lots of contrasting traits
- Mendel’s findings were now known as Mendelism or mendelian laws of
inheritance
- Gene
- A specific sequence of DNA containing the information codes of a protein
- I.e. a chromosome contains hundreds of thousands of genes
- A segment of DNA that codes for a specific trait
- Stores information, alternate form: alleles
- But not all genes are the same/code for the same trait
- Allele (allelomorphs)
- Any one of two or more genes that may occur alternately at a given site (locus)
on a chromosome
- Exists as DOMINANT and RECESSIVE
- Bb bb BB
- Dominant and Recessive Allele
Dominant Recessive