Bio 301 Exam 3

Combined DNA indexing system; a panel of 13 markers that are highly variable

the study of the entire sequence of an organism or cell

the study if heredity and the variability of inherited traits

when two genes are close enough on the same chromosome that alleles travel together

the distance between chromosome positions for which the expected average number of intervening chromosomal crossovers in a single generation is 0.01

complete list of expressed and non expressed genes

a field emerged to handles the large amounts of data collected from genomics

2013 Supreme Court upheld legality of using DNA at the time of arrest as a means of identification

the Maryland high court upheld warrant less DNA collection from someone who hadn’t even been arrested for a crime

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

Billions of DNA strands can be sequenced at the same time which yields more throughput

Next Generation Sequencing can sequence new genomes and use informatics to piece it together

$2500-$10000

the sequencing and analysis of the genome of an individual

Single Nucleotide Polymorphisms (SNPs)

Partial Sequencing or Full Sequencing

Genetics testing website that is based on a panel of SNPs that are associated with disease risk or protection services cost $99 to $199

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

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

assessing whether treatments are right for an individual patient based on their genetic profile

Pharmacogenetics, which helps doctors select the best drugs or avoid possible side effects

an example of predictive medicine that was founded by Kari Stefansson in 1996

Performing genotyping on a panel of SNPs and identifying the risk for a disorder, genetic ancestry and compare genome data with others

identified some of the first genes found for schizophrenia, cardiovascular disease and cancer

A scientific process that uses recombinant DNA is inserting a new sequence or gene into an organism

X linked recessive disorder

getting an infection like prion disease

No contamination with viruses

unlimited supply

Insulin lispro is fast acting and taken at meal times

Insulin glargine is taken once daily and long acting

Used in the treatment of rheumatoid arthritis, psoriatic arthritis, juvenile idiopathic (immune system attacks joints and tendons)

Engineerded to block TNF

1996, considered safe if proteins produced

expresses protein from the bacteria bacillus thurgiensis, which is poisonous to insects

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

carries an activated oncogene that takes control of the mouse mammary tumor virus promoter

A disorder that can only be acquired through genetic mutation and where there is only ONE gene known that can account for that disorder

Refers to single gene disorders where one variant of a gene can give you the trait

When two mutant copies of a gene give one a trait associated with a single gene disorder

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

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

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

(Small Tandem Repeat Markers) flank the gene in repeated sequences that can be used for linkage or association with genetic disorders

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

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

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

When one characteristic is controlled by 2 or more genes

Autosomal recessive disorder causes simultaneous deafness and blindness

Common medical problems

Effects of multiple gene combinations as well as lifestyle and environmental factors

both genetic and environmental factors are most common

Only need the parents and two more affected children/need several hundred families at once

Cancer occurs when cells grow without restriction, destroying healthy tissue and outcompeting it for nutrients and blood supply

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

when cancer becomes invasive and moves to other sites

Overgrown tissue that are localized

Cancer growths are overgrown and have the potential to spread through the body

The Grade of Cancer

Cancer is a genetic disease, can run in families, as age passes one has higher chances of cancer

the older one gets the more chances for random gene mutation to accumulate in a cell pushing it to metastasis

Yes

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

G1- Integrity of DNA is assessed

G2 - Check if DNA was duplicated correctly

M - Did spindle fibers attach to kinetochore or centromere

Biochemical signaling ensures DNA is stable to duplicate, that it went well and division of the cell body created two daughter cells

Abnormal growth

Tumor suppressor genes

Mutated Proto-oncogenes provide signal that drive cell division

150, 40 skin to skin

HPV 16 and 18

HPV, 80%

Cervical Cancer, Penile Cancer, testicular cancer and oropharyngeal cancer

10 - 20 years

Gardasil vaccine, 30%

Reduce Infection and Reduce risk of cancer at ages 11 to 12, 2 doses for protection

25%, HER2 Oncogenesis, Makes tumors Aggressive

metastatic stomach or gastroesophageal cancers

BRCA 1/BRCA 2

linkage studies to identify regions of the genome that passed on more frequently in familial breast cancers

Autosomal Dominant, 8 in 10 chance by age 70