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medical interventions unit 2

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amniocentesis
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a technique for determining genetic abnormalities in a fetus by the presence of certain chemicals or defective fetal cells in the amniotic fluid, obtained by aspiration from a needle inserted into the uterus
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anneal
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to be capable of combination through heating and cooling
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carrier screening
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a test that determines whether an individual has a copy of a gene for serious disorders although they do not have the disorder themselves
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chorionic villus sampling (CVS)
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a technique for diagnosing defects in a fetus by removing and analyzing a sample of the placenta
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denaturation
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1st step of PCR done at 95 degrees (C) so that the hydrogen bonds holding the double stranded dna together breaks
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gene
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a unit of genetic information consisting of a specific nucleotide sequence of dna
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genetic counseling
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process of communication that deals with the risk factor of a genetic disorder in a family
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genetic testing
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determining if someone has a genetic disorder, will develop one, or is a carrier
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genome
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All the genetic information in an organism; all of an organism’s chromosomes.
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genotype
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the genetic makeup of an organism expressed by alleles
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karyotype
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a display of chromosome pairs of a cell arranged by size
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newborn screening
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analysis of a newborns blood for metabolic or genetic disorders which early diagnosis and treatment are available
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phenotype
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the expression of traits told by the genotype
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polymerase chain reaction (PCR) definition
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a technique used to copy short pieces dna sequences and make millions of copies
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primer
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corresponds with the start and end of dna so that only the targeted piece of dna is amplified
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restriction enzyme
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a protein which recognized specific nucleotide sequences and cuts up dna
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single nucleotide polymorphism (SNP)
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one base pair variation in the genome sequence
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supernatant
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liquid left behind after the solid has been spun down to the bottom via centrifuge
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taq polymerase
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dna synthesis enzyme that can withstand high temps of pcr
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thermal cycler
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machine which automatically cycles through the various temperatures of pcr
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ultrasonography
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noninvasive technique which allows the examination and measurement of body structures and possible abnormalities by 2D image
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genetic diseases and disorders
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illnesses that originate in our chromosomes and DNA
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gene abnormalities
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gene mutations which can happen in a large piece of dna or singular base pair
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single-gene (genetic disorder)
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caused by mutations that occur in one gene
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form fits function
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the idea that due to the gene being altered, the protein will be and therefore the function
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single gene disorders
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-autosomal dominant -autosomal recessive -sex linked
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how many chromosomes do we have?
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46; 44 autosomes, 2 sex chromosomes
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multifactorial (genetic disorder)
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caused by a combination of environmental factors and mutations in multiple genes
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chromosomal (genetic disorder)
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when there are additions, deletions, translocations or breaks of chromosomes
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mitochondrial (genetic disorder)
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rare mutations of non-chromosomal dna which you can only get from your mother
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preimplantation genetic diagnosis (PGD)
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used following IVF to diagnose a genetic disease before the embryo is implanted in the uterus; very helpful bc you can choose which embryos to implant
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fetal screening/prenatal diagnosis
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used to diagnose a genetic condition in the fetus by using amniocentesis, cvs, genetic screening, ultrasound
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dechenne muscular dystrophy
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mitochondrial disorder
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cystic fibrosis
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single gene disorder
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huntington’s disease
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single gene disorder
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down syndrome
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chromosomal disorder
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leber hereditary optic neuropathy
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mitochondrial disorder
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alzheimer’s diseae
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chromosomal disorder
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tay sachs disease
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single gene disorders
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chorionic villi sampling (CVS) (bc at 10-13 weeks a large needle is inserted into the uterus in order to get a sample from the placenta)
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When thinking about preimplantation genetic diagnosis and fetal testing, does one type of test raise more ethical concerns than the other? Explain your thinking.
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nature v. nurture (Diseases can be caused by Nature, Nurture, or both. Nature is the genetic makeup and Nurture is the way you are raised (environments). Since identical twins come from the same “Nature” — having the same genes — you can isolate the “Nurture” aspect. For example, if the twins in different environments get the disease, you can assume it has a correlation to the genetic makeup while if the only one of the twins end up with a disease, the environment has come into play.)
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Why are studies of identical twins raised in different environments extremely valuable in understanding the causes of a disease?
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allows for the comparison of genes (“normal gene” v. unknown)
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How do you gel ELECTROPHORESIS can be used to test human genes? How could these techniques determine if someone has a mutation for a particular disease?
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allows for the multiplication of dna so that there is enough dna to be examined
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How do you gel PCR can be used to test human genes? How could these techniques determine if someone has a mutation for a particular disease?
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allows for the separation of genes through cutting at specific areas (you can compare a “normally” cut gene to an unknown)
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How do you gel RESTRICTION ANALYSIS can be used to test human genes? How could these techniques determine if someone has a mutation for a particular disease?
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polymerase chain reaction (PCR definition)
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technique to copy dna to help with dna testing always including the same taq polymerase, buffer but changing the dna, primer as necessary
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dna nucleotides
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ATCG
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pcr steps
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1. denaturation 2. annealing 3. extension
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annealing
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2nd step in PCR process occuring at 45-65 degrees C to bind the primers to the dna strands
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extension
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3rd step of PCR process occuring at 72 degrees C so the taq polymerase can add nucleotides to the primers and complete the synthesis of the new complementary strands
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gel electrophoresis
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Explain how a scientist can target a specific gene or region of the DNA in a PCR reaction. For example, how could the target the gene known to be involved in Tay Sachs disease?
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a specific primer attaches to the region of dna which relates to Tay Sachs
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Explain how a thermal cycler helps with the process of PCR. What is its purpose?
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used to amplify segments of dna by heating and chilling it @ specific time in order to denature, anneal and extend
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Explain the role of a DNA standard (also known as DNA marker or DNA ladder) in the gel analyzing process. For example, in the gel above, Lane 1 contains the standard.
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a “standard” of sizes used to compare the molecules being ran through the gel; since the ladders band sizes are known the unknown can be estimated
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Why was it necessary to run a control in this experiment? What does the control tell you? For example, in the gel above, Lane 2 could be considered a control.
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a control shows 0 pcr cycles for point of comparison
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what does the bands in electrophoresis indicate?
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the thicker/higher intensity, the more proteins present bc there it ran through more pcr cycles
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single-nucleotide polymorphisms (SNPs)
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genetic mutation where a single genome is altered
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dominant allele
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An allele whose trait always shows up in the organism when the allele is present.
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recessive allele
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An allele that is masked when a dominant allele is present
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Explain how the HaeIII enzyme discriminates between the C-G polymorphism in the TAS2R38 gene.
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Hae||| cuts at the sequence GG:CC however when it mutates into GGGC, it is unable to recognize a place to cut
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If a child is a non-taster, what possible genotypes are the child’s parents? Explain your reasoning.
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Tt or tt; a recessive allele is needed from each parent
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tasters taste the bitterness of cigarettes more prominently & don’t care for the taste
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Some studies have shown that PTC “tasters” are less likely to become smokers. Why do you think scientists are seeing this correlation?
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prenatal screening
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what can a karyotype tell expectant parents about their child?
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what can make a pregnancy “high risk?”
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age, weight, diseases
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early pregnancy ultrasound
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20 week ultrasound
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4D ultrasound
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a baby boy named Carter
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what does judy smith have?
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How can cells obtained from CVS or amniocentesis be used for genetic testing? (How exactly can samples from the chorion or amniotic fluid tell if your baby has a genetic condition?)
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women are born with all the eggs they will ever have while men constantly produce sperm
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Explain why advanced age has an effect on a woman’s eggs, but not necessarily a man’s sperm.
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folic acid helps the rapid growth of the placenta so the baby can develop; it helps prevent ntd’s
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Why should a woman who is pregnant take a vitamin high in folic acid?
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What are the duties of a genetic counselor?
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What is the goal of PCR?
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What are the steps (including times, temperatures and what is happening) of the PCR process?
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What is the relationship between phenotype and genotype?
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Explain how single base pair changes called single nucleotide polymorphisms (SNPs) can be identified through genetic testing and often correlate to specific diseases or traits.
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How can restriction enzymes and electrophoresis be used to identify SNPs and determine genotype?
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What medical interventions and lifestyle modifications can help a pregnant woman have a healthy pregnancy?
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cloning
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gene therapy
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in vitro fertilization
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preimplantation genetic diagnosis (PGD)
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sex selection
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a method of predetermining the sex of a child by using prefertilization or preimplantation methods
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vector
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How can genetic diseases be cured if scientists could replace faulty genes?
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What vectors can be used to transfer DNA to human cells?
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How might gene therapy open the door to genetic enhancement?
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What medical interventions are available for couples who would like to choose the gender of their child?
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Should parents be able to design their children?
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What is the difference between reproductive cloning and therapeutic cloning?
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What are some of the ethical dilemmas surrounding current and future reproductive technology?
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bioinformatics
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How does CRISPR target the gene of interest?
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What role does Cas9 play in the CRISPR system?
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Which diseases are candidates for treatment for the CRISPR-Cas9 system?
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How can CRISPR-Cas9 be tailored to target different genes?
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How do doctors and researchers decide whether a disease is a good candidate for gene therapy?
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What factors must be considered when choosing a vector for a gene therapy trial?
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Why do you think testing for gene doping would be extremely difficult?
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designer babies
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Babies with gender and characteristics chosen by their parents – currently illegal.
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reproductive cloning
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making a full living copy of an organism
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therapeutic cloning
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stem cells taken from embryos to treat human disorders
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How can sex selection—choosing the sex of an embryo—help parents who fear passing on a sex-linked disorder, such as hemophilia or Duchenne muscular dystrophy?
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Explain the role the environment plays in two of the options listed on the student resource sheet. How would this influence affect what parents hoped they could achieve by altering genes?
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How does therapeutic cloning differ from reproductive cloning? Do you feel one is more acceptable than the other? Why or why not?
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dolly the sheep
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first cloned mammal