Introduction and Genetics Flashcards
Pathophyisology
derangement of function seen in disease
Disease
a condition with signs or symptoms that is linked to an increased risk of future death or disability
symptom
a subjective indication of a disease reported by a patient
sign
an objectively observed phenomena associated with disease
three examples of signs
- blood work
- x rays
- physical examination
three examples of symptoms
- nausea
- pain
- fatigue
genetics
the study of heredity and its variations
heredity
the passing of traits to offspring from parents or ancestors
gene
a molecular unit of inheritance
what are the four DNA nucleotides
- adenine
- guanine
- cytosine
- thymine
central dogma of genetics (4)
- DNA unzips to form a template for mRNA
- mRNA leaves the nucleus and proceeds to ribosomes
- tRNA carries amino acids to ribosomes
- proteins are constructed using mRNA as a template
exons
segments of DNA which code for mRNA used in protein synthesis
introns
segments of DNA which code for RNA but not protein synthesis
genome
the entire DNA sequence of an indvidual
exome
the 1.5-2% of which are exons that encode proteins
what determines genetic diversity between individual and species
the non-coding genome
what percent of disease causing mutations are found in the exome? the non-exome?
- 60-65%
- 35-40%
what are the two parts that make up condense chromatin
DNA + proteins
what are the four functions of chromosomes
- packaging
- protection
- progeny
- programming
why are chromosomes important for packaging
the coiling of the chromosome allows for 2m of chromatin to fit in the nucleus
two types of chromosome proteins
- Histone
- Non-histone
what is the function of histone proteins
encourages coiling and supercoiling of chromatin
how many types of histone proteins are there
5
what do non-histone proteins do
regulate transcription, replication, repair, and recombination of DNA

