Unit 2 MI – Flashcard
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Amniocentesis
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A technique for determining genetic abnormalities in a fetus bt the presence of certain chemicals or defectice fetal cells in the amniotic fluid, obtained bt aspiration from a needle inserted into the uterus.
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Anneal
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To be capable of combining with complementary nucleus acid by a process of heating and cooling.
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Carrier screening
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Indiscriminate examination of members of a population to detect heterozygotes for serious disorders.
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Chorionic villus sampling (CVS)
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A technique for diagnosing genetic and congenital defects in a fetus by removing and analyzing a sample of the fetal portion of the placenta.
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Denaturation
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In DNA, the separation of two strands of the double helix.
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Gene
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A discrete unit of heredity information consisting of a specific nucleotide sequence of DNA.
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Genetic counseling
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A process of communication that deals with the occurrence or risk that a genetic disorder will occur in a family.
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Genetic testing
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The use of methods to determine if someone has a genetic disorder, will develop one, or is a carrier.
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Genome
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The complement of an organism's genes; an organisms genetic material.
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Genotype
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The genetic makeup of an organism.
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Karyotype
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A display of the chromosome pairs of a cell arranged by size and shape.
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Newborn screening
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The analysis of a neonate's blood for metabolic or genetic disorders to prevent mental retardation, disability or death.
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Phenotype
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The physical and physiological traits of an organism.
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Polymerase chain reaction (PCR)
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A technique that involves copying short pieces of DNA and then making millions of copies in a short period of time.
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Preimplantation Genetic Diagnosis (PGD)
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In assisted reproductive technology, the determination of genetic abnormalities in the embryo before it is transferred to the uterus.
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Primer
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A short piece of DNA or RNA that is complementary to a section of template strand and acts as an attachment and starting point for the synthesis strand during DNA replication.
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Restriction enzyme
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A degradation enzyme that recognizes 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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The (usually) clear liquid left behind after a precipitate has been spun down to the bottom of a vessel by centrifugation.
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Taq polymerase
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A DNA synthesis enzyme that can withstand the high temperatures of PCR.
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Thermal cycler
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An instrument that automatically cycles through different temperatures used to complete PCR reactions.
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Ultrasonography
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A noninvasive technique involving the formation of a two-dimensional image used for the examination and measurement of internal body structures and the detection of bodily abnormalities.
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What percent of everyone's genome is the same?
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99%
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Duchenne Muscular Dystrophy
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Progressive muscle degeneration and weakness - Caused by an absence of dystrophin, a protein that helps keep muscle cells intact - Primarily affects boys - Single gene sex-linked disorder Signs: - Babies often late walkers - Enlarged calf muscles - Clumsy, fall often - Trouble climbing stairs and getting up from the floor or running - Walking on toes, or balls of feet - Difficulty raising arms
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Cystic Fibrosis
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Severe damage to lungs and digestive system - affects the cells that produce mucus, sweat and digestive juices - Secreted fluids are thick and sticky - Secretions plug up tubes, ducts and passageways, especially in lungs and pancreas - Single gene recessive disorder Symptoms - A persistent cough that produces thick spit (sputum) and mucus - Wheezing - Breathlessness - A decreased ability to exercise - Repeated lung infections - Inflamed nasal passages or a stuffy nose - Foul-smelling, greasy stools - Poor weight gain and growth - Intestinal blockage, particularly in newborns (meconium ileus) - Severe constipation
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Huntington's Disease
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Single gene dominant disorder - nerve cells in certain parts of the brain waste away, or degenerate - genetic defect on chromosome 4 - the defect causes a part of DNA, called a CAG repeat, to occur many more times than it is supposed to. Normally, this section of DNA is repeated 10 to 28 times. But in persons with ... disease, it is repeated 36 to 120 times. - The most common is adult-onset ... disease. Persons with this form usually develop symptoms in their mid-30s and 40s. - An early-onset form of ... disease accounts for a small number of cases and begins in childhood or adolescence. Symptoms - Behavioral disturbances - Hallucinations - Irritability - Moodiness - Restlessness or fidgeting - Paranoia - Psychosis - Facial movements, including grimaces - Head turning to shift eye position - Quick, sudden, sometimes wild jerking movements of the arms, legs, face, and other body parts - Slow, uncontrolled movements - Unsteady gait - Disorientation or confusion - Loss of judgment - Loss of memory - Personality changes - Speech changes
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Down Syndrome
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- genetic disorder that causes lifelong mental retardation, developmental delays and other problems - Chromosomal disorder Symptoms - Flattened facial features - Small head - Short neck - Protruding tongue - Upward slanting eyes, unusual for the child's ethnic group - Unusually shaped ears - Poor muscle tone - Broad, short hands with a single crease in the palm - Relatively short fingers - Excessive flexibility
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Leber hereditary optic neuropathy
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- Mitochondrial disorder - Inherited form of vision loss - Males affected more than females - Movement disorders - affects 1 in 30,000 to 50,000 people in northeast England and Finland. - features similar to multiple sclerosis, which is a chronic disorder characterized by muscle weakness, poor coordination, numbness, and a variety of other health problems - mitochondrial pattern of inheritance, which is also known as maternal inheritance
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Alzheimer's disease
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- Multifactorial disorder - an irreversible, progressive brain disease that slowly destroys memory and thinking skills, and eventually even the ability to carry out the simplest tasks - as many as 5.1 million Americans may have ... disease - most common cause of dementia
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How would a genetic counselor use a pedigree to help his or her clients understand genetics?
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Pedigrees show the route in which genetic diseases take as far as the inheritance in involved. A genetic counselor would use a pedigree to show the inheritance of a certain genetic disease/disorder in a particular family.
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Compare and contrast 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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Preimplantation genetic diagnosis: used by people with autosomal dominant conditions who don't want to pass it on to the child Fetal testing: performed on fetuses still in the uterus Both: raise concer Fetal screening raises ethical concerns because you are working on the fetus and preimplantation raises concern because ''designer babies''
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Explain why parents may be fearful or apprehensive about genetic testing.
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they are told everything that MAY go wrong with the baby and freak out over things that might not even happens.
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How might factors such as income and access to medical insurance, influence a couple's genetic testing and reproductive decisions?
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Some parents may be afraid to find out if their child has a genetic disease/disorder before he/she is born. It could put a good amount of stress on both parents during the pregnancy.
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Why are studies of identical twins raised in different environments extreme valuable in understanding the cause of a disease?
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Depending on the study and the particular trait of interest, data is collected and compared from identical or fraternal twins who have been raised together or apart. Finding similarities and differences between these sets of twins is the start to determining the degree to which nature and environment play a role in the trait of interest.
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What plays a role in the development of disease?
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Environmental and genetic factors.
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4 types of genetic disorders:
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Single-gene Multifactorial Chromosomal Mitochondrial
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Single-gene
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Changes or mutations that occur in the DNA sequence of ONE GENE
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What does a gene contain?
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Instructions for the production of a protein.
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Single gene can be inherited in..
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Autosomal dominant Autosomal recessive Sex linked
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A man and a women are both carriers for sickle cell disease, an autosomal recessive trait. What is the risk of their having an affected child?
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25% since each parent is heterozygous
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Multifactorial disorders
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Combination of environmental factors and mutations in multiple genes. (Heart disease and breast cancer) ( many are most common chronic illnesses)
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Chromosomal disorders
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-46 chromosomes -44 autosomes( body) -2 sex Karyotypes diagnosis chromosomal disorders
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Mitochondrial disorders
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A rare type of genetic disorder. Caused by mutations in non-chromosomal DNA of mitochondrial. Only passed from mother to child.
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Examples of the 4 types of genetic disorders:
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Single gene Multifactorial Chromosomal Mitochondrial
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4d ultra sound
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More advanced than 2d can let you see baby movement as it's happening.
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Most change in baby
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In first trimester
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Amniocentesis
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- ultrasound to see where to put the needle -needle inserted to mothers uterus through abdomen - amniotic fluid is taken from the sac around the fetus - procedure itself is 45 minutes - collecting the fluid Itself is less than 5 - results few days to couple weeks - performed 14-20 weeks (11 sometimes) - looking for: chromosomal abnormality, neural tube defects, genetic disorders, paternity testing -99% accurate (although probabilities of identification are high, thus test does not measure the severity of these birth defects) - 1% miscarriage
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Chorionic Villus dampening (CVS)
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- cells (which have the same genes as the baby) are taken from the placenta via. Reflect -98% accurate 1 transcervical (ultrasound with catheter most common) 2 transabdominal needle (similar to amniocentesis) -larger samples and faster results (1-7 days) - chosen over amniocentesis bc it could be performed earlier in the pregnancy (10-13 weeks) - detects chromosomal abnormalities, genetic disorders. NOT neural UBS defects. - paternity sampling -higher miscarriage.
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Karyotype
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# and visual appearance of chromosomes. Can tell: sex size shape and location of chromosome. - tells if there's a chromosome in a lance but not how severe
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Edwards syndrome
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- small head - organs outside of the body - low weight - shirt statue - wide spaced eyes
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Women old age
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Eggs are older and errors in meiosis may be more likely to happen as a result of aging process
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Ultrasound
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Medical imagining technique that uses high frequency sound waves and their echoes. - check on baby grown - can have one anytime during pregnancy
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Gene therapy
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Practice of inserting functional genes into a persons genome to replace faulty genes.
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Vectors
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Delivery systems for gene therapy
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Pros gene therapy
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Curing genetic disease. Preventing genetic disorders. Save lives.
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Cons gene therapy
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Dangerous. Not sure of effects. Children have no choice. Religious disagreements. Immune system not recognize what's happening.
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IFV ( in vitro fertilization)
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A reproductive technology in which an egg is removed from the woman and joined with a sperm cell from a man in a test tube.
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PGD (pre implantation genetic diagnosis )
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A technique that helps ensure that a baby does not possess a known genetic defect. To analyze chromosomes and identify the embryos that have a greater chance of surviving
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Cloning
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Using a somatic or body cell from a multicellular organism to make one or more genetically identical individuals
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Gene Therapy
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The alteration of the genes of a person afflicted with a genetic disease
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In virto fertilization
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A procedure in which gametes are fertilized in a dish in the laboratory, and the resulting zygote is implanted in the uterus for development
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preimplantation genetic diagnosis (PGD)
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n assisted reproductive technology, the determination of genetic abnormalities in the embryo before it is transferred to the uterus
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Sex selection
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Methods used to predetermine or diagnose the sex of an embryo for the purpose of selecting only those embryos of a particular sex for transplanting to the uterus of a woman
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Vector
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An agent (as a plasmid or virus) that contains or carries modified genetic material and can be used to introduce extra genes into the genome of an organism
