Bio 301 Exam 3 (copy)

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

when does cancer occur

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

stages of cancer cells developing

• begins with only one cell that reproduces by mitosis and accumulates gene disruption that make it more likely to divide

• cells divide continuosusly and loose the ability that keep mitosis from happening at wrong times

• cancer becomes invasive and moves to other parts of the body (metastasis)

what are benign growths

overgrown tissue that is localized and hasn’t spread

what are cancerous growths

they are not only overgrown they have the potential to spread throughout the body

* the grade of cancer is determined by how far it has spread

what kind of disease is cancer

genetic

clues that cancer is genetic

• can run in families

• the older the person is the higher chance of cancer

  • the older we get the more chances for random gene mutation accumulate in a single cell driving toward metastasis

• the morphology of a cell is altered

the Cell cycle

dividing cells have a cell-cycle , or a series of stages and event that take place in a cell that lead to duplication of its DNA and chromosomes and division of the cell body to produce two daughter cells

cell cycle checkpoint

• Points during the cell cycle where biochemical signaling ensures that DNA is stable enough to duplicate, that the duplication went well and that the cell is ready to divide

• G1 G2 and M checkpoints

G1 checkpoint

integrity of DNA is assessed, are there any broken chromosomes strands?

G2 checkpoint

was DNA synthesized (duplicated correctly)

M checkpoint

did the spindle fibers attach to the kinetochore or the centromere

broken checkpoints lead to

abnormal growth

tumor suppressor genes

• code for proteins that when they are working correctly, maintain the cell cycle in check

• loss of function leads to unchecked growth

Proto-oncogenes when mutated

provide a signal that drives cell division

HPV virus

• 150 strains

• 40 can pass from direct skin to skin contact

• most common STD

• 80% of sexually active individuals at some point

Hpv 16 and 18

th cervical cancer most commonly associated

hpv and cancer

• causative agent in cervical cancer, penile cancer, testicular cancer, and oropharyngeal cancer

• 10-20 years from inial HPV infection until tumor forms

Gardasil vaccine

• protects against HPV

• reduces infection, reduce risk of cancer

  • get it from 11-12

  • 2 doses from optimal protection

• 30 % of cervical cancers will not be prevented by vaccines

HER2 Oncogenisis

• 25% of breast cancers have this gene amplified

• aggressive tumors

• also used for metastatic stomach or gastresophageal cancers

Breast cancer genes

• BRCA1

• BRCA2

BRC1 identification

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

• autosomal Dominant

  • 8 in 10 risk developing breast cancer by age 70