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36 Cards in this Set

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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

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

Caused when there are missing or extra copies of genes, or breaks, deletions or rejoining of chromosomes

Chromosomal disorders

Caused by mutations in non chromosomial DNA which is passed from mother to child

Mitochondrial Disorders

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

A thermostable enzyme used to extend the DNA

Taq Polymerase

Designed to correspond to the start and end of the target DNA being amplified

Primers

Free Deoxyribonucleotides needed for extension

dNTPs

A solution used to incubate the reaction components

Buffer

Extraction of cells

Isolating DNA

Polymerize chain reaction

Amplifying DNA

Recognition of SNPs and cutting of DNA

Restriction Analysis

Separation of DNA fragments based on molecular weight

Gel Electrophoresis

Steps of PCR

Denature


Anneal


Extend

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

Risks of Amniocentesis

miscarriage


leaking amniotic fluid


Infections


Preterm labor


Rh sensitization

Time Amniocentesis is performed during pregnancy

14 weeks of pregnancy


(15-20 weeks)

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.

Risks of CVS

Infections


Miscarriage


Bleeding/Cramping


Fetal Limb deformities


Rh sensitization

Time CVS is performed during pregnancy

Can be performed around 10-12 weeks

What is Ultrasound

Used sounds waves to develop ultrasound images of what's going on inside the body

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

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)

3 negative behaviors during pregnancy in order to not ensure proper prenatal care

Smoking


Drinking


Drugs (ecstasy)

What techniques can cure genetic diseases through the replacement of faulty genes

Gene Therapy

What is gene therapy

Insert new gene to replace a faulty disease-causing gene

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

Why is it important to target the right cells?

Have to find the right cell and then deliver genetic material to it

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

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

What are two types of vectors?

Viruses


Plasmids

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

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

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.

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.

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.