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36 Cards in this Set
- Front
- Back
Caused by changes or mutations in the DNA sequences of one gene which results in the production of a non functional protein. |
Single Gene Disorder |
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Caused by a combination of environmental factors and mutations in multiple genes which results in many of the most common chronic illnessess |
Multi factorial disorders |
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Caused when there are missing or extra copies of genes, or breaks, deletions or rejoining of chromosomes |
Chromosomal disorders |
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Caused by mutations in non chromosomial DNA which is passed from mother to child |
Mitochondrial Disorders |
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What is the purpose of PCR |
Takes a small part of DNA or RNA and compliments them in order to create thousands of copies of the person's DNA. Clone sequences of DNA. Change copies from a small sample |
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A thermostable enzyme used to extend the DNA |
Taq Polymerase |
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Designed to correspond to the start and end of the target DNA being amplified |
Primers |
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Free Deoxyribonucleotides needed for extension |
dNTPs |
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A solution used to incubate the reaction components |
Buffer
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Extraction of cells |
Isolating DNA |
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Polymerize chain reaction |
Amplifying DNA |
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Recognition of SNPs and cutting of DNA |
Restriction Analysis |
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Separation of DNA fragments based on molecular weight |
Gel Electrophoresis |
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Steps of PCR |
Denature Anneal Extend |
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What is Amniocentesis |
Inject large needle through the abdomen and into the uterus, where amniotic fluid is removed. The fluid contains cells that provided the DNA needed to perform genetic testing |
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Risks of Amniocentesis |
miscarriage leaking amniotic fluid Infections Preterm labor Rh sensitization |
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Time Amniocentesis is performed during pregnancy |
14 weeks of pregnancy (15-20 weeks) |
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What is Chorionic Villus Sampling |
Chorionic villus cells are removed from the placenta. Insert a needle vaginally and directing that needle to the placenta. Small sample of the cells-identical to baby are used for testing. |
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Risks of CVS |
Infections Miscarriage Bleeding/Cramping Fetal Limb deformities Rh sensitization |
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Time CVS is performed during pregnancy |
Can be performed around 10-12 weeks |
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What is Ultrasound |
Used sounds waves to develop ultrasound images of what's going on inside the body |
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3 things that doctors/ nurses can determine when using ultrasound |
Fetal Heartbeat Number of babies present Study and analyze the placenta and amniotic fluid levels |
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3 positive behaviors during pregnancy in order to ensure proper prenatal care |
Consume enough folate (folic acid) Take prenatal vitamins Healthy eating habits (getting enough daily values for all substances) |
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3 negative behaviors during pregnancy in order to not ensure proper prenatal care |
Smoking Drinking Drugs (ecstasy) |
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What techniques can cure genetic diseases through the replacement of faulty genes |
Gene Therapy |
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What is gene therapy |
Insert new gene to replace a faulty disease-causing gene |
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In order to deliver genes successful in gene therapy, what are things to consider? |
1. Targeting the right cells 2. Activating the gene 3. Integrating the gene into the cells |
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Why is it important to target the right cells? |
Have to find the right cell and then deliver genetic material to it |
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Why is it important to activate the gene? |
You want to turn on the right gene, not a random one, otherwise you risk a possible mutation that could occur |
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Why is it important to integrate the gene into the cells? |
If the DNA doesn't become part of the rest of the DNA, the gene therapy will never work in the first place |
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What are two types of vectors? |
Viruses Plasmids |
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What are ways that parents can choose the gender of their children? |
1. Sperm sorting with artificial insemination 2. Preimplantation genetic diagnosis with In Vitro Fertilization |
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What is sperm sorting with artificial insemination? |
X or Y chromosome is separated from sperm, then desired sperm is combined with the female eggs through artificial insemination, when semen is injected into the vagina |
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What is Preimplanation genetic diagnosis with in vitro fertilization? |
Helps potential parents to prevent the birth of a child with a serious genetic condition. Eggs are obtained and fertilized through In Vitro Fertilization. Look of abnormalities in DNA or Chromosomes as embryos develops for 2 to 3 days. If needed, it is then fixed, then the women is inseminated. Combine egg with sperm in dish, then transfer embryo to the uterus. |
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Steps in reproductive cloning |
1. Begin with 1 egg cell and a somatic donor for which to be the cloned organism. 2. Donor cells nucleus is inserted into the egg cell, transforming over the cells genetic info. Egg cells beings to act like a fertilized egg 3. Egg develops into an embryo, then cell divides. 4. Once embryo divides in 16 cells, it's transformed to a surrogate mother of the same or related species 5. Embryo develops into an organism genetically identical to the donor of the somatic cell. |
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What is the difference between reproductive and therapeutic cloning? |
Therapeutic cloning follows the same process as reproductive cloning, except instead of letting the embryo to develop fully into the organism desired, it instead gets stem cells extracted from it, therefore these stem cells can transform into any cell desired, such as heart, brain, spine, lung, etc. |