Term
|
Definition
-coined by Galton, Darwin's cousin
-"noble in heredity"
-science of improving human stock by giving "the more suitable races of blood a better chance of prevailing speedily over the less suitable" |
|
|
Term
| What are the essential elements of Eugenics? |
|
Definition
-presume we have a problem with the gene pool (degradation or declining intelligence)
-this problem requires a systematic social/govtal solution
-applies to pop rather than individual
-requires subordination of wishes and problems (reproductive ones) of the pop in question in favor of the wishes of the broader pop/state
-coercion (segregation, sterilzation, extermination)
-economic/social encouragement of desirables |
|
|
Term
| What is Francis Galton (1822-1911)? |
|
Definition
-was not influenced by Mendel until the end of his life
-believed that heredity governed physical features, talent and character
-imagined producing a highly gifted race of men |
|
|
Term
|
Definition
-19th century: rapid growth of US industry
-mechanization of agriculture
-systematic exploitation of labor
-concomitant rise in unions
-rising tide of immigration peaking in 1910s-1920s |
|
|
Term
| What is social darwinism? |
|
Definition
-acceptance of Galtonian ideas
-survival of the fittest
-by dawn of 20th century social darwinism was failing |
|
|
Term
| How was social darwinism selected against? |
|
Definition
-wealthy/powerful had a low birthrate b/c they were choosing to marry later
-poor ppl were outreproducing the wealthy
-progressivism: boundless faith in science to solve social problems |
|
|
Term
| What was the progressive rationale for eugenics? |
|
Definition
-social problems and moral deficits can be transmitted from 1 generation to another
-if we prevent these transmissions, we can make the world a better place
-would save money on police, health care, education, putting down rebellions |
|
|
Term
| What is positive eugenics? |
|
Definition
-better babies, fit families
-let's have the right people produce at a faster rate |
|
|
Term
| What is negative eugenics? |
|
Definition
-sterilization of those who were deemed unfit
-there was also idea of hidden feeblemindedness (people who carry trait for feeblemindedness must also be sterilized) |
|
|
Term
| Who was Charles Davenport? |
|
Definition
-he was the scientific face of US eugenics
-he and Laughlin attempted to mendelize everything so that it would conform to a nice neat pattern
-they would take any trait and try to fit it into recessive dominant or x-linked inheritance |
|
|
Term
| Who organized the first International Eugenics Congress? |
|
Definition
-Leonard Darwin, Charles son in 1912
-there was lots of mainstream support for eugenics |
|
|
Term
|
Definition
-positive eugenicist
-said we had to do the right thing, if we had lousy genes it was our responsibility not to transmit them
-never talked about negative eugenicsc
-believed humanity was interfering with natural selection and dirtying the gene pool
-wrote out of the night: a biologist's view of the future |
|
|
Term
|
Definition
-Carrie Buck and mother Emma were judged to be "feebleminded" and promiscuous
-ERO testified that Carrie's 7 month old daughter "showed backwardness"
-SCOTUS,1927, carrie had to be sterilized
-the Buck v. Bell precedent has never been overruled |
|
|
Term
|
Definition
-He was the PR man for eugenics in the Buck v Bell case.
-the Nazis borrowed his model law to justify sterilization of 350,000 |
|
|
Term
| Murderous science (the book) |
|
Definition
| -detailed account of the Germans (Nazis) implementing Laughlin's ideas on a massive scale |
|
|
Term
|
Definition
-Hitler read Human Heredity, including section of racial superiority
-passed law for prevention of progeny with hereditary defects |
|
|
Term
|
Definition
-discovered a brain malformation syndrome that bore their name
-advocated removing the brains of those who were killed so they can be used for studying |
|
|
Term
|
Definition
-interracial marriage illegal in 28 states
-eugenicists offer "scientific" racism
-intermarriage is "racial suicide"
-madison grant said it was a social and racial crime
-VP Coolidge: biological laws tell us that certain divergent people will not mix or blend
-1924 Virginia passed the racial integrity act: racial registration and strict definitions |
|
|
Term
| Loving v Commonwealth of Virginia |
|
Definition
-1958 Mildred Jeter marries Richard Loving in DC and moves to VA
-plead guilty under Racial Integrity Act and are sentenced to one year in jail
-the Lovings appeal to SCOTUS, which strikes down the decision in 1967 |
|
|
Term
|
Definition
-1924 Laughlin testifies before congress in support of restrictive immigration bill
-Immigration Restriction Act of 1924
-Prez Coolidge, signed bill and said America must remain American. |
|
|
Term
|
Definition
-poorly defined traits
-reification (treating complex traits as if they were one-dimensional)
-poor research methods
-false quantification
-social and environmental factors
-The Carnegie Insitution closes the ERO in 1939 |
|
|
Term
| What leads to eugenics movements? |
|
Definition
-advances in techonlogy
-doctor and scientists behavior
-social and political factors |
|
|
Term
| "Law of the people's republic of China on Maternal and Infant Care" |
|
Definition
-pre marital medical examination that looks for various disease
-includes eugenics friendly language |
|
|
Term
|
Definition
-he instantiated what mendel was talking about
-made mendel manifest, made mendel real
-in many ways, he was the father of genetic screening. |
|
|
Term
| when was sex of fetus able to be determined prenatally? when was the first termination of a fetus? what case made abortion legal? |
|
Definition
| 1955, 1960, Roe v Wade (1973) |
|
|
Term
| What is analytic validity? |
|
Definition
-refers to measurement
-how well does the test measure what it says its going to measure
-in the case of a test for a specific mutation, analytic validity refers to the accuracy of a genetic test in identifying the presence or absence of the mutation
-depends on: the technical accuracy and reliability of the testing procedure and the quality of the laboratory processes (i.e. specimen handling) |
|
|
Term
| What is clinical validity? |
|
Definition
-how well does the test predict a clinical outcome
-depends on: sensitivity of the test (the proportion of people who test positive for a disease among those who actually have the disease)
-specificity (proportion of ppl who test negative for a disease among those who do not have the disease)
-low sensitivity leads to many false negatives
-low specificity leads to many false positives |
|
|
Term
| Can the clinical validity of a genetic test vary in different populations? Why or why not? |
|
Definition
| Yes, may be that a mutation has a very high probability of leading to disease in one population has a much lower prob in another |
|
|
Term
| What is clinical utility? |
|
Definition
-likelihood that the test will, by promoting an intervention, result in an improved health outcome
-will the test improve the patient's health?
-depends on whether helpful interventions are available |
|
|
Term
| What are possible interventions after performing a clinical test? |
|
Definition
-correction of the underlying genetic defet (not yet)
-interventions to reduce the risk of developing the disease
-screening to detect early or aggressive disease
-interventions to improve quality of life |
|
|
Term
| What is personal utility? |
|
Definition
refers to the value of a test as perceived by the patient separate from any proven clinical utility or predictive power
-example: relatives of ppl w/ alzheimers disease who are at a higher risk are actually willing to pay for APOE testing while they are still healthy |
|
|
Term
| what is consumer carrier screening? |
|
Definition
| -the idea of screening many genes in people who do not necessarily have a family history |
|
|
Term
| What is the counsyl test? |
|
Definition
one test for 100+ genetic disease
-all are autosomal recessive or x-linked
- |
|
|
Term
| What proportion of births does mendelian disease account for? What is the cost of raising an affected child? |
|
Definition
-1 in 280 births
-$100,000 to $1m |
|
|
Term
| Couples who test positive for a population carrier screening have options: |
|
Definition
-preimplantation genetic diagnosis
-prenatal testing
-donor gametes
-adoption
-don't conceive
-conceive and prepare |
|
|
Term
| What is preimplantation genetic diagnosis (PGD)? |
|
Definition
-looking at embryo and genotyping it
-only take embryos that are not affected and put it back into mom |
|
|
Term
| What 3 things can you choose with PGD? |
|
Definition
-SEX SELECTION
-TRAIT SELELCTION
-SAVIOR SIBLINGS |
|
|
Term
|
Definition
-screen of 7717 regions in 437 genes accounting for 448 recessive disorders
-104 ppl each carried 2.8 mutations on avg (range 0-7)
-current test screens for 592 disorders |
|
|
Term
| What are we looking for when we develop these tests? |
|
Definition
-variomes
-exomes
-whole genomes |
|
|
Term
|
Definition
| SNP chips (500,000 or more markers (~0.008%-0.031%) |
|
|
Term
|
Definition
| the protein-coding 1-2% (~20,000 genes) |
|
|
Term
| What is the whole genome? |
|
Definition
| the whole diploid enchilada (~93%) have not managed to sequence 5-7% of genome b/c it is so repetitive |
|
|
Term
| What is noninvasive prenatal diagnosis? |
|
Definition
-maternal blood inste4ad of amniotic fluid or chorionic villi
-free-floating bits of fetal DNA in maternal blood (10% of cell-free DNA)
-it is possible to isolate fetal DNA and compare to mom and dad DNA |
|
|
Term
| What are some applications of noninvasive prenatal diagnosis? |
|
Definition
-fetal Rh typing
-detection of aneuploidies, e.g. trisomy 21 |
|
|
Term
| What are some limitations of non invasive prenatal diagnosis? |
|
Definition
-only 10% of cell-free DNA is of fetal origin
-initial studies used already known info about maternal and paternal genomes
-much easier w/ knowledge of maternal haplotype, either from paternal DNA (process of elimination) or maternal relatives
-still costly ($1000s of dollars) |
|
|
Term
| What companies have started whole exome sequencing? |
|
Definition
| Ambry Genetics and Genedx |
|
|
Term
| What does the disclaimer from GeneDX state? |
|
Definition
| -their test is only useful if the patient has gone through all the routine diagnostic tests and does not have a definitive molecular diagnosis yet. |
|
|
Term
|
Definition
-hearing impairment
-most frequent sensory disability (1:1000)
-may be caused by genetic or environment
-age @ onset, severity, and progressiveness all vary
-may be syndromic (10%): a feature > 500 syndromes
-> 50 known genes involved
-every mode of inheritance observed |
|
|
Term
| Arguments against intentionally conceiving a deaf child |
|
Definition
-curtails the child's right to open future
-irresponsible to create a child that will require great public assistance
-parental love shouldn't be contingent on the child's particular genetic features
- |
|
|
Term
| arguments in favor of allowing intentional conception of a deaf child |
|
Definition
-deafness is a distinctive culture that should be celebrated and conserved
-deaf ppl disable more by transactions of hearing world than by pathology of their hearing impairment
-decision to select for deafness does not impose constraints on the child's ability to make choices
-deaf children make society more diverse |
|
|
Term
| What are some forms of human identification? |
|
Definition
-forensic odontology
-fingerprinting
-facial recognition
-DNA |
|
|
Term
| What are some applications of genetic human identification? |
|
Definition
-crime solving
-suspect identification
-identification of remains
-immigration
-human trafficking
-civil investigations
-personal investigations |
|
|
Term
| True or false? Both Nuclear and Mitochondrial DNA are sued in forensic DNA identity testing |
|
Definition
|
|
Term
| True or false? Biological material may be present at a crime scene even if it is not visible to the naked eye. |
|
Definition
|
|
Term
| What is the best probative DNA evidence? |
|
Definition
-info does not support contact having ever occurred b/w the victim and suspect
-victim's or suspect's DNA is where it is not supposed to be |
|
|
Term
| What are some commonly used techniques for detection of biological material? |
|
Definition
-visual inspection of the crime scene
-examination with alternative light source
-examination w/ oblique lighting
-chemical presumptive testing |
|
|
Term
| What does PCR technology permit? |
|
Definition
-permits very small samples and partially degraded DNA to be tested
-shortens analysis time from weeks to days
-PCR is primary reason why DNA testing is increasingly used today as an investigative tool for law enforcement |
|
|
Term
| What types of markers are used for human genetic identification? |
|
Definition
-VNTR markers
-STR markers
-SNP markers
-mitochondrial DNA sequence
-phenotypic markers |
|
|
Term
| What do SNP markers have less power than STR markers? |
|
Definition
| b/c it only has 2 different nucleotides at an SNP |
|
|
Term
| Why is mitochondrial DNA sequencing sometimes more useful than DNA? |
|
Definition
-can be used on things that lack nuclei like ahir
-mito dna is circular so it does not degrade as easily as nuclear DNA |
|
|
Term
|
Definition
| -extracted and amplified DNA must be separated so that alleles can be differentiated from each other |
|
|
Term
| What are 2 primary methods used for DNA separation? |
|
Definition
-slab gel electrophoresis (BANDS)
-capillary electrophoresis (CE) - PEAKS |
|
|
Term
| How does electrophoresis process work? |
|
Definition
| -uses an electric field to separate negatively charged DNA based upon the size of the amplified fragment |
|
|
Term
|
Definition
| -STR markers were selected from polymorhpic variable noncoding regions |
|
|
Term
| How many STR markers does CODIS require? |
|
Definition
|
|
Term
|
Definition
-amelogenin is found on sex chromsomes
-females type as XX and males types as XY (generally)
-amelogenin data may aid in interpretation of a mixture containing male and female DNA |
|
|
Term
|
Definition
| COmbined DNA Index System |
|
|
Term
| Who administers the database? |
|
Definition
|
|
Term
| What 3 levels does CODIS operate on? |
|
Definition
-National DNA index system (NDIS)
-State DNA index system (SDIS)
-Local DNA index system (LDIS) |
|
|
Term
| What does the forensic file CODIS index? |
|
Definition
| -contains DNA profiles developed from crime scene evidence |
|
|
Term
| What does the convicted offender CODIS index include? |
|
Definition
| contains DNA profiles of individuals convicted of certain crimes |
|
|
Term
| What does the missing persons index contain? |
|
Definition
| unidentified remains, family sample, and specimen from missing persons |
|
|
Term
| What is low copy number analysis? |
|
Definition
-the ability to develop an STR DNA profile on items with very little DNA deposited on them (e.g., touched doorknob, drinking glass)
-requires same steps as standard STR testing but uses a higher number of PCR cycles to amplify the evidentiary DNA (more copies of the target DNA, making STR typing more successful) |
|
|
Term
| What are some human errors in typing? |
|
Definition
-cross-contamination of samples
-mislabeling of samples
-misinterpretation of test results
-examiner bias
-bias in courtroom testimony |
|
|
Term
| What happens in expansion of CODIS? |
|
Definition
state statutes limited DNA retention to persons convicted of "serious violent felonies"
-includes any homocide and sexual assualt |
|
|
Term
| True or False. There is an overrepresentation of minorities in CODIS |
|
Definition
|
|
Term
| When is it plausible to do a familial search? |
|
Definition
-When there are no leads in the case
-full profile item of evidence (13 loci) |
|
|
Term
| what are some potential social impact of familial searching? |
|
Definition
-exposing unknown familial relationships
-genetic witnesses and genetic informants
-genetic surveillance
-abuse of power
-disparate impact on families of lower SES
-disparate focus on racial minorities |
|
|
Term
| potential impact on law enforcement |
|
Definition
-impact on investigators to follow up on multiple leads
-cost of investigations |
|
|
Term
| What amendment would be violated by searching people's dna? |
|
Definition
|
|
Term
|
Definition
dna left on things like coffee cups or cigarette butts
-it is abandoned so not an invasion of privacy |
|
|
Term
|
Definition
-temporary seizure of a large number of individuals to gather DNA evidence in the US is forbidden
-this is no constitutional prohibition on requesting DNA samples from large numbers of people who are not detained or arrested, provided consent is obtained voluntarily
- |
|
|
Term
| what is biogeographical ancestry? |
|
Definition
| predicting a person's biogeographical ancestry based on SNP markers that have been highly correlated w/ certain geographic regions |
|
|
Term
|
Definition
| -a # of methods show promise for approximating an individual's age, including the detection of expressed age specific genes and damage to the genetic material |
|
|
Term
|
Definition
-application of DNA analysis to predict physical characteristics of an unknown perpetrator from DNA left at a crime scene
-there are currently no limitations on what info law enforcement can look for in DNA left at a crime scene |
|
|
Term
|
Definition
-nature vs nurture
-MAOA genotype for aggression, credit card debt |
|
|
Term
| What is human trafficking? |
|
Definition
| the movement of individuals or slavery of individuals from one place to another |
|
|
Term
| examples of Human trafficking in US include... |
|
Definition
-domestic servitude
-agriculture
-manufacturing/construction
-janitorial/hotel services
-health and elder care
-hair/nail salons
-strip clubs |
|
|
Term
| What are some issues with international dna testing and databases? |
|
Definition
-privacy
-authority
-cultural differences
-social differences
-law enforcement chain-of-custody
-customs |
|
|
Term
|
Definition
-no mandatory oversight, minimal voluntary oversight
-no oversight of 3rd party intermediaries marketing tests and collecting samples |
|
|
Term
| There are no state laws prohibiting surreptitious DNA testing. true or false? |
|
Definition
| false. there are some state laws that prohibit sureptitious DNA testing |
|
|
Term
| Why is identifying people after a mass disaster labor intensive? |
|
Definition
| b/c there are large number of victims |
|
|
Term
| What happens to human casualties? |
|
Definition
-range from intact to highly degraded
-high impact disasters result in fragmentation and degradation
-in the US, there are >10,000 unidentified human remains reported from 1980-2004 |
|
|
Term
| What phenotypes are critical in human casulaties? |
|
Definition
| -bones, teeth, fingerprints, distinguishing marks, medical devices and implants, DNA profiles |
|
|
Term
| What are some challenges of disaster victim identification? |
|
Definition
-scarcity
-fragmentation
-decomposition/degradation/heat
-contamination
-intermixing of samples from multiple individuals
-lack of reference samples |
|
|
Term
| what are 3 of the early molecular methods? |
|
Definition
-protein polymorphisms
-blood group polymorphisms
-HLA polymorphisms |
|
|
Term
| What are HLA genes used for? |
|
Definition
to match trasplant donor and recipient
-these genes are highly polymorphic |
|
|
Term
| What are some advantages of DNA? |
|
Definition
-can come from any part of the body
-profile comparisons can match remains
-reference samples can come from personal effects
-family member samples: kinship analysis |
|
|
Term
| What are some challenges of DNA? |
|
Definition
| same sex sibs, incomplete information, large #'s of victims in a single mass disaster |
|
|
Term
| What is the chain of custody? |
|
Definition
-how we store, gather, collate, check, and curate data
-quality assurance/control
-reduce sample mix-ups
-human error is an on going problem in this kind of stuff |
|
|
Term
| During DNA analysis, which one is chosen first, STR or mtDNA? |
|
Definition
|
|
Term
| Why is bone/teeth more resilient than soft tissue? |
|
Definition
| it holds onto intact DNA better than soft tissue |
|
|
Term
| Are the 13 CODIS Core STR Loci distributed evenly throughout the 23 pairs of chromosomes? |
|
Definition
|
|
Term
| What are some advantages of mtDNA in DVI (disaster victim identification)? |
|
Definition
-thousands of copies per cell and thus, robust
-circular nature protects it from degradation |
|
|
Term
| What are some disadvantages of mtDNA? |
|
Definition
-heteroplasmy (there is sequence variation w/in an individual's mtDNA)
-maternal inheritance can make it hard to reconstruct relationships if victim and/or relatives are male-- only sibs or maternal relatives are valuable for matching |
|
|
Term
| Why was it hard to do standard STR typing at WTC? |
|
Definition
| b/c lots of degraded samples |
|
|
Term
|
Definition
| smaller pieces of DNA that would be amplified by PCR |
|
|
Term
| What are SNPs less informative than STRs? |
|
Definition
| they tend to have only 2 alleles (biallelic) |
|
|
Term
| What are some statistical considerations when performing dna analysis? |
|
Definition
-quality of material available
-availability of the reference material
-how polymorphic the markers being analyzed are
-genotype freqs of the analyzed markers
-pop-specific genotype freqs
-# of victim samples possibly represented |
|
|
Term
| Some incorrect assumptions include |
|
Definition
-the prosecutor's fallacy
-the theoretical prob of a match is the same as the practical prob
-the rate of laboratory errors can be ignored
-population allele frequency data can be ignored
-an indirect match (victim to relative) is just as good as a direct match |
|
|
Term
| What is the prosecutor's fallacy? |
|
Definition
| the prob of a match = the prob of a positive identification |
|
|
Term
| DNA Analysis @ Ground Zero |
|
Definition
-prior DNA-based DVI was <500 persons
- almost 3000 individuals missing
-few bodies intact
-20,000 pieces of bone and weak tissue
-samples damaged by explosion, heat, collapse of buildings
-samples commingled
-small quantities, degradation = no STR typing in many cases |
|
|
Term
| How many remains from 9/11 have been identified? |
|
Definition
|
|
Term
| Lessons learned from the WTC |
|
Definition
-Establish laboratory policies and procedures, including the creation of sample collection documents.
-Assess the magnitude of an identification effort, and identify and acquire resources to respond.
-Identify reference and kinship samples.
-Create a comprehensive laboratory management plan, including technology management and quality assurance.
-Establish lines of communication between agencies, departments, victims’ families, and the press. |
|
|
Term
| What are some abiding issues in law enforcement? |
|
Definition
-DNA databases are not large enough to adequately represent the criminal population
-police investigations are often unsuccessful
-cold cases |
|
|
Term
| What are some possible solutions and problems with law enforcement? |
|
Definition
-increase size of database (requires societal will, legislation [collect DNA from more people]
-mass intelligence screenings, i.e., dragnets
-bad guys have caught on and don't participate in dragnets
-law enforcement may focus on non-participants
-familial searching..effective if y-chromosome markers are used
-right to refuse testimony against close relatives |
|
|
Term
| Who is manfrid kaiser and what did he discover? |
|
Definition
| -he is a pop geneticist who is developing various ways to use DNA markers (SNPs) to predict visible traits |
|
|
Term
| Manfred Kayser's Lab uses... |
|
Definition
| DNA as a more reliable witness to measure EVCs (externally visible characteristics) |
|
|
Term
|
Definition
-there are SNPs associated w/ visible traits
-can assay 1 mil SNPs at a time
-if successful, police investigations focused on specific groups of people (a smaller number of suspects) |
|
|
Term
| What is the most obvious EVC? |
|
Definition
|
|
Term
| What is T-cell DNA-based age estimation? |
|
Definition
-t-cells chop up DNA in order to make a broad range of antibodies
-whatever's left over forms a circle
-# of circles declines w/ age (as people get older, they make fewer new T cells)
-stuided 195 Dutch, from newborns to age 80
-predicted age +/- 9 years |
|
|
Term
|
Definition
| -a sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information |
|
|
Term
| What percent accuracy can we predict if someone has blue or brown eyes? |
|
Definition
|
|
Term
| True or false. In non-europeans there is little variation in iris color. |
|
Definition
|
|
Term
| In what region of the genome are the most informative SNPS for iris color in Europeans located? |
|
Definition
|
|
Term
|
Definition
| bind to mRNA and stop it from protein assembly |
|
|
Term
| What are the EVCs defenses? |
|
Definition
-EVCs derived from anonymous crime scene... only useful where there are no known suspects
-EVCs are visible to every1.. they can't be a privacy violation
-EVCs offer only probabilities, not certainties
-eyewitness accounts are notoriously inaccurate
-police will not be interested in the actual genotypes, just predicted traits
-EVC SNPs are non-coding and are not associated with disease (so far). The Netherlands precludes the use of such markers.
-most crime scene samples yield very little DNA, which is often of poor quality
-EVC predictions are neutral, not influenced by cultural stereotypes
-we have alot of work to do in the scientific, legal, and civic realms |
|
|
Term
| Francis Galton imagined improving the race of men through what? |
|
Definition
|
|
Term
| What region of the genome are CODIS markers located in? |
|
Definition
| non-coding regions of the genome |
|
|
Term
| Genetic ancestry testing cannot be used to examine a population's oral traditions. true or false? |
|
Definition
|
|
Term
| What is the founder effect? |
|
Definition
| the affected populations orginiated froma small group of founders |
|
|
