Studied by 63 people
What is CODIS
Combined DNA indexing system; a panel of 13 markers that are highly variable
What is Genetics
the study of the entire sequence of an organism or cell
What is Genomics
the study if heredity and the variability of inherited traits
What is Linkage
when two genes are close enough on the same chromosome that alleles travel together
What is a Centimorgan/Map Unit
the distance between chromosome positions for which the expected average number of intervening chromosomal crossovers in a single generation is 0.01
What is the Human Genome project
complete list of expressed and non expressed genes
What is Bioinformatics
a field emerged to handles the large amounts of data collected from genomics
Maryland vs King final court ruling
2013 Supreme Court upheld legality of using DNA at the time of arrest as a means of identification
State vs Raynor
the Maryland high court upheld warrant less DNA collection from someone who hadn’t even been arrested for a crime
What is California’s DNA Act
collecting DNA at arrest “unreasonably intrudes such arrestees expectation of privacy”
and therefore violates the search and seizure provision of the California Constitution, California’s equivalent to the 4th amendment
Why are fragment cloning methods being replaced by Next Generation Sequencing
Billions of DNA strands can be sequenced at the same time which yields more throughput
What can next generation sequencing do with new genomes and bioinformatics
Next Generation Sequencing can sequence new genomes and use informatics to piece it together
What is the price of Next Generation Sequencing
$2500-$10000
What is personal genomics
the sequencing and analysis of the genome of an individual
What is Personal Genomics based off
Single Nucleotide Polymorphisms (SNPs)
What kind of sequencing can Personal Genomics be
Partial Sequencing or Full Sequencing
What is 23 and Me and how much is it
Genetics testing website that is based on a panel of SNPs that are associated with disease risk or protection services cost $99 to $199
What are the Pros of using 23 and Me
People should have the right to their own genetic information
A person can get SNPs done for genealogy and then go back on their own to compare disease risk
People can do this without their insurance company being involved
What are the Cons of using 23 and Me
People may make life altering choices based on risks that are not substantiated
This is a medical test that is offered without a medical license, testing lab regulation or without genetic counseling
if minors are being test the problems arises whether the parents will make decisions for their minors
What is predictive medicine
assessing whether treatments are right for an individual patient based on their genetic profile
What does Predictive Medicine use to analyze drug interactions with genotypes and what does it help doctors with
Pharmacogenetics, which helps doctors select the best drugs or avoid possible side effects
What is DeCODE
an example of predictive medicine that was founded by Kari Stefansson in 1996
What did DeCODE do
Performing genotyping on a panel of SNPs and identifying the risk for a disorder, genetic ancestry and compare genome data with others
What is DeCODEs acheivements
identified some of the first genes found for schizophrenia, cardiovascular disease and cancer
What is biotechnology
A scientific process that uses recombinant DNA is inserting a new sequence or gene into an organism
What is Hemophilia
X linked recessive disorder
What is the danger of a growth hormone used to treat short stature
getting an infection like prion disease
What are Recombinant hCG preparations benefits
No contamination with viruses
unlimited supply
What is the difference between Insulin lispro and Insuline glargine
Insulin lispro is fast acting and taken at meal times
Insulin glargine is taken once daily and long acting
What is Enbrel used for and how does it work
Used in the treatment of rheumatoid arthritis, psoriatic arthritis, juvenile idiopathic (immune system attacks joints and tendons)
Engineerded to block TNF
What year was Transgenic Crops introduced and what makes them safe
1996, considered safe if proteins produced
What is BT corn express from what bacteria how does this repel insects
expresses protein from the bacteria bacillus thurgiensis, which is poisonous to insects
How is soil affected by Round Up, how are plants protected
Absorbs to soil and does not go deep degraded by soil microbes, Round up resistant crops are genetically engineered so only the weeds are killed
What is an Oncomouse and what is its effect on Mice
carries an activated oncogene that takes control of the mouse mammary tumor virus promoter
What are Single Gene Disorders
A disorder that can only be acquired through genetic mutation and where there is only ONE gene known that can account for that disorder
What is Dominant Inheritance
Refers to single gene disorders where one variant of a gene can give you the trait
What is a recessive trait
When two mutant copies of a gene give one a trait associated with a single gene disorder
What are complex genetic traits
conditions or traits that are caused by multiple genes or combinations of genes and environment interactions height is a prime example of a complex trait
What is Genetic Heterogeneity
A phenomenon in which a single phenotype or genetic disorder may be caused by any one of a multiple number of alleles or non allele mutations
What are Family Studies
Genetic examination of a trait in families the closer the relationship between two individuals the more genes they share which should increase the rate of a disorder occurring in family members compared to the rest of the population
What is STRP
(Small Tandem Repeat Markers) flank the gene in repeated sequences that can be used for linkage or association with genetic disorders
What is Autism, what geneder does it affect more, what are some things people with Autism can exhibit
Neurodevelopmental disorder with 2 domains of cognitive impairment social/communication deficits and stereotypic behaviors; affects males more; individuals may lack sympathy/empathy with others and engage in repetitive or abnormal behaviors
What is ADHD
Attention Deficit Hyperactivity Disorder
Comprised of 3 types of attention deficit issues predominantly inattentive, hyperactive and a combined type persuasive disorder that is hypothesized to be an inability to inhibit or delay motor responses due to prefrontal-striatal dysfunction
What are Copy Number Variations
Sections of the genome are repeated some number of times this number of section repeats varies between each individual making it a unique marker that can be studied
What is a Polygenic Trait
When one characteristic is controlled by 2 or more genes
What is Usher Syndrome
Autosomal recessive disorder causes simultaneous deafness and blindness
What is a Multifactorial Trait
Common medical problems
Effects of multiple gene combinations as well as lifestyle and environmental factors
What are Mental Health Disorders
both genetic and environmental factors are most common
What is the Sir Pair approach
Only need the parents and two more affected children/need several hundred families at once
How does cancer occur, what does it do to healthy tissue
Cancer occurs when cells grow without restriction, destroying healthy tissue and outcompeting it for nutrients and blood supply
How does cancer start and how is division sustained
Begins with one cell that reproduces by mitosis then gets gene disruptions making it more likely to divide cells loose the ability to prevent mitosis
What is metastasis
when cancer becomes invasive and moves to other sites
What are Benign growths, does it move?
Overgrown tissue that are localized
Are cancerous growths capable of spreading?
Cancer growths are overgrown and have the potential to spread through the body
What determines how far a cancer has spread
The Grade of Cancer
How does Cancer spread and what clues hint to the method of spreading
Cancer is a genetic disease, can run in families, as age passes one has higher chances of cancer
Why do older people have higher chances of cancer
the older one gets the more chances for random gene mutation to accumulate in a cell pushing it to metastasis
Does the Morphology of a cell become altered?
Yes
What is the Cell Cycle
A series of stages that take place in a cell that leads to duplication of its DNA and chromosomes and division of the cell body to make daughter cells
What are the Cell Cycle Checkpoints
G1- Integrity of DNA is assessed
G2 - Check if DNA was duplicated correctly
M - Did spindle fibers attach to kinetochore or centromere
What does the Cell Checkpoints achieve?
Biochemical signaling ensures DNA is stable to duplicate, that it went well and division of the cell body created two daughter cells
What happen if checkpoints become broken?
Abnormal growth
What genes code for proteins that keep the cell cycle in check
Tumor suppressor genes
What molecule makes a signal that drive cell division
Mutated Proto-oncogenes provide signal that drive cell division
How many Strains are there of Human Papilloma Virus and how many can pass through direct skin to skin contact
150, 40 skin to skin
What are the most common HPVs in relation with Cervical Cancer
HPV 16 and 18
what is the most common STD and what percentage of sexually active individuals get it
HPV, 80%
What types of Cancer does HPV cause
Cervical Cancer, Penile Cancer, testicular cancer and oropharyngeal cancer
How many years does it take from inital infection of HPV to tumor formation
10 - 20 years
What vaccine is there for HPV and want percentage of cancers cant be prevented by vaccines
Gardasil vaccine, 30%
What does the Gardasil vaccine reduce and at what ages and how many doses for optimal protection
Reduce Infection and Reduce risk of cancer at ages 11 to 12, 2 doses for protection
What percentage of breast cancers have this gene amplified and how does that affect tumors
25%, HER2 Oncogenesis, Makes tumors Aggressive
HER2 Oncogenesis is used for what other conditions
metastatic stomach or gastroesophageal cancers
What genes account for Breast Cancer
BRCA 1/BRCA 2
How is BRCA 1 identified
linkage studies to identify regions of the genome that passed on more frequently in familial breast cancers
What is the genetic behavior of Breast cancer (recessive or dominant)
What is the risk of developing breast cancer by 70
Autosomal Dominant, 8 in 10 chance by age 70
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