Bio 301 exam 3

CODIS

Combined DNA indexing system: a panel of 13 markers that are highly Variable

Genetics

the study of heredity and the variability of inherited traits

Genomics

the study of the sequence of an organism or cell

Linkage

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

Centimorgan or Map Units

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

Human Genome Project

a complete list of expressed and non expressed genes

Bioinformatics

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

Maryland vs King

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 warrantless DNA collection from someone who hadn’t even been arrested for a crime

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 fourth amendment

Next Generation sequencing (3)

• Millions or billions of DNA strands can be sequenced at the same time which yields more throughput and minimizes the need for the fragment cloning methods that are often used

• can sequence new genomes and use bioinformation to piece it together

• cost from $2500 or $10000

personal Genomics (4)

• the sequencing and analysis of the genome of an individual

• can be based on single nucleotide polymorphisms (SNPs)

• can be partial sequencing or full sequencing

• ex 23 and me

23 and Me (2)

• genetic testing website founded in 2006 that is based on a panel of SNPs that are associated with disease risk or protection

• service for about $99 to $199

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 the go back on their own to compare to disease risk

• people can do this without their insurance company being involved

cons of using 23 and me

• people 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 tested, the problem arises whether the parent will make decisions for their minors

predictive medicine (3)

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

• uses pharmacogenics, which analyzes how drugs interact with specific genotypes

  • helps doctors select best drug or avoid possible side effects

DeCODE

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

• aimed at preforming 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

biotechnology

a scientific process that use recombinant DNA is in inserting a new sequence or gene into an organism

hemophilia

• x linked autosomal recessive disorder

• Hemophilia is a genetic disorder that affects the blood's ability to clot properly. It is caused by a deficiency in clotting factors

growth hormone and its dangers

• used to treat short stature

• can lead to getting an infection like Prion disease (mad cow disease)

recombinant hCG

Recombinant hCG (human chorionic gonadotropin) is a synthetic form of the hormone hCG that is produced through genetic engineering techniques. It is used in fertility treatments to stimulate ovulation and in some cases, to increase sperm production in men. Recombinant hCG is also used in some cancer treatments and as a diagnostic tool for certain medical conditions.

recombinant hCG preparations benefits

• no contamination with viruses

• unlimitedsupply

insulin lispro

fast acting, taken at meal times

Insulin glargine (lantus)

once daily, long acting

enbrel (2)

• used in the treatment of rheumatoid arthritis, psoriatic arthritis , juvenile idiopathic

• immune system attacks joints and tendons. engineered to block TNF

transgenic crops

introduced in 1996 considered safe if proteins produced

BT corn

expresses proteins from the bacteria bacillus thurgiensis, is poisonous to insect pest

round up

• absorbs to soil does not go very deep, degraded by soil microbes

• round up resistant crops are genetically engineered , so weeds around them can be killed, but they survive

oncomouse

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

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

dominant inheritance

refers to single gene disorders where one variant of a gene can give you the trait, one example being huntington’s disease

recessive trait

refers to when two mutant copies of a gene give one a trait associated with a single gene disorder, examples are cystic fibrosis and sickle cell anemia

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 trat, with disorders for gigantism, dwarfism and marfan syndrome

genetic heterogeneity

• a phenomenon in which a single phenotype or genetic disorder may be caused by any one of a multiple number5 of alle-mutations

• a good example of this is Usher syndrome, causing simultaneous deafness and blindness

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 general population

STRP (small tandem repeat markers)

* markers which flank the gene in repeated sequenced that can be used for linkage or association with genetics

autism

* neurodevelopmental disorder with 2 domains of cognitive impairment
* social/communication deficits and stereotypic behaviors,
* effects males more than females as we know, affecting 1 in 68 school children
* individuals may lack contact or sympathy /empathy with others and engage in repetitive or otherwise abnormal behaviors, such as rocking or inappropriate attachment to objects

ADHD

* disorder comprised of 3 recognized type of attention deficit issues
* predominantly inattentive
* predominantly hyperactive
* combined type
* pervasive disorder that is hypothesized to be an inability to inhibit or delay motor response due to prefrontal striatal dysfunction in the brain

Copy Number Variations

phenomenon in which 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

polygenic trait

occurs when one characteristic is controlled by 2 or more genes

genes are large in quantity but small in effect

genetic heterogeneity

single phenotype or genetic disorder may be caused by any one of a multiple number of alleles or non-allele mutations

usher syndrome

autosomal recessive disorder. cause simultaneous deafness and blindness

multifactorial trait

common medical problems such as: heart disease, diabetes and obesity. effects of multiple gene combinations as well as lifestyle and environmental factors

mental health disorders

both genetic and environmental factors are most common

sir pair approach

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