Know the 3 types of drug tolerance
Drug becomes less sensitive/responsive (e.g. receptor concentrations change)
Associated with long-term administration of drugs such as morphine and heroin
Reduction in drug responsiveness brought on by repeated dosing over a short time
Metabolic (pharmacokinetic) tolerance
Results from accelerated drug metabolism
Know, in general term, how a protein is made; know general structure of DNA/RNA
During transcription, the info stored in a gene’s DNA is transferred to a similar molecule called RNA in the cell nucleus. mRNA contains the information for making a protein and it carries that message from the DNA out of the nucleus and into the cytoplasm. IN the cytoplasm, the mRNA interacts with a ribosome, which reads the mRNA’s sequence of bases. Each sequence of 3 bases (codons) code for one particular amino acid, which is the building block of proteins. The transfer RNA or tRNA assembles the proteins one amino acid at a time until the ribosome encounters the STOP codon and then the protein folds into itself and becomes the protein we know.
DNA is made up of molecules called nucleotides. Each nucleotide has a phosphate group, a sugar group and a nitrogen base (A, T, G, C). A and G are purines, C and T are pyrimidines. The DNA is found as a double helix composed of 2 chains of nucleotides held together by hydrogen bonds.
RNA is basically the same EXCEPT that the base thymine (T) is replaced by uracil (U) and ribose replaces the deoxyribose (sugar group), also it is single stranded and has a shorter chain of nucleotides
Know what are chromosomes and how many humans have
a threadlike structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes.
How many do humans have:
In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Twenty-two of these pairs, called autosomes, look the same in both males and females. The 23rd pair, the sex chromosomes, differ between males and females.
¨Two genes that are close together on the chromosome are called “linked”
¨Linked genes are rarely separated by crossing-over and therefore are usually inherited together
Copies of a gene
a person’s physical characteristics
a person’s genetic material
If a trait is only expressed in a homozygote, it is recessive
If the trait is expressed on a heterozygous it is dominant
Having two identical alleles at corresponding loci on homologous chromosomes
Having two different alleles at corresponding loci on homologous chromosomes
Any chromosome not considered as a sex chromosome, or is not involved in sex determination
is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but does not display that trait or show symptoms of the disease
the study of changes in organisms caused by modification of gene expression rather than alteration of the genetic code itself
is a substance or agent that causes an increase in the rate of change in genes. Examples of mutagens include certain biological and chemical agents as well exposure to ultraviolet light or ionizing radiation.
Mutagenesis is the formation of mutations
Know what a single-gene disorder is and know the various ways its passed onto offspring; know the types of mutations; know the single-gene disorders covered in lecture
Change of a single gene
Results in single protein or enzyme not being produced or having an altered function
Can have trivial or lethal effects depending on gene involved
Can effect one or both autosomal gene pair
Can also affect sex-linked chromosomes
Follow mendelian pattern of inheritance: Gregory Mendel - punnett square
How to pass it onto offspring
Autosomal dominant: non sex, phenotype is shown. When the dominant gene holds the mutation holding a 50% the offspring will get it.
Aa and aa. A is dominant a is recessive. Showing below is a 50% chance of giving it to offspring.
Change in a base pair that does not result in a change in the sequence of amino acids in a protein. The protein is still the same.
“ the fat cat saw the red dog”
A change in an amino acid where the new amino acid has a different property than the old amino acid.
The protein with the new primary structure may have altered, reduced or no activity. Can make it not viable or malfunction.
“the eat cat saw the red dog”
A new stop translation codon formed before the naturally occurring one.
Translation is stopped prematurely and a shortened protein is made
“the fat cat saw”
A deletion or insertion of one base results in a change in the translational reading frame
“the efa tca tsa wth ere ddo”
Know what is polyploidy, and the types of polyploidy
Polyploidy, the condition in which a normally diploid cell or organism acquires one or more additional sets of chromosomes. In other words, the polyploid cell or organism has three or more times the haploid chromosome number.
More than diploid number of cells
Triplody (69), tetraploidy (92)
10% of miscarriages, incompatible with life
Know what is aneuploidy and types; know the disorders covered in lecture
Aneuploidy: 1 or 3 copies of a single chromosome
Monosomy - Turner syndrome (a female is born with 1 “X” chromosome)
Down Syndrome: Extra chromosome on the 21st (Trisomy)
Edwards Syndrome: Extra chromosome on 18th (Trisomy)
Klinefelter Syndrome: XXY - male is born with an extra copy of the X chromosome
XYY Syndrome - may have increased risk of learning difficulties and speech development
XXX Syndrome - Learning difficulties, decreased muscle tone, seizures, or kidney problems
Know what it is meant by “Multifactorial Disorders;” know what Teratogenesis/teratogens means; know when are teratogens most affected
Multifactorial Disorders: Both multiple genes and the environment could affect one trait
Teratogenesis is literally birth defects.
the process by which congenital malformations are produced in an embryo or fetus.
-Gross malformations (What you can see with yo eyes)
-Neurobehavioral and metabolic anomalies (Stuff you can’t see)
- Teratogens most affected
Development occurs in three stages:
-Conception through week 2
-Embryonic period: Weeks 3 through 8
Gross malformations produced by teratogens
- Fetal period: Week 9 through delivery
Functions disrupted with teratogen exposure
Know what it is meant by “Mitochondrial Disorders.”
Mitochondria are unable to completely metabolize/generate energy
Loss of muscle coordination, muscle weakness
Gastrointestinal disorders, severe constipation
Developmental delays, learning disabilities
Visual and/or hearing problems
Neurological problems, seizures
Heart, liver, or kidney disease
Increased risk of infection
Know, in general terms, genetic tech covered in lecture
Used to test parentage and used in forensics
Dideoxynucleotides (ddNTPs) lack the 3’-hydroxyl group necessary for forming a phosphodiester bond
Not just bacterium, but other species, as well
Did it go to the right place?
Rodents epigenetics are not as complicated as humans are making it harder to clone
CRISPR: Clustered regularly interspaced short palindromic repeats
Bacterial defense system
repeating sequences of genetic code, interrupted by “spacer” sequences
Remnants of genetic code from past invaders
Serves as a genetic memory that helps the cell detect/destroy invaders
Cut by Cas9 protein
Very precise and cheap
RNA sequencing : epigenetics
You may go into preterm labor
Now you can get blood tests done
BBB is not kept 100% separate, high false positive rate