PLTW MI Unit 2

Gel electrophoresis

Used to identify PTC genotype

PCR

Used to amplify PTC gene

Restriction Enzyme

Used to digest PCR products

PTC paper tasting

Used to identify PTC phenotype

Multifactorial gene variation

Refers to the genetic influence of multiple genes and environmental factors on a particular trait or phenotype.

Mitochondrial gene variation

A disorder that runs in the family and seems to come from the mother

Chromosomal gene variation

Refers to changes in the structure or number of chromosomes that can affect an organism's traits or phenotype.

Single gene mutation

A disorder caused by a mutation in one gene that causes a change in the protein

Denature

Heating up (96 degrees C)- Unzip DNA template strand

Anneal

Cooling down (46 degrees C)-Primer attaches to target sequence

Extension

Heating up (72 degrees C)-Nucleotide bases are added to the template to extend the strand

Purpose of the DNA standard ladder

Used as a reference to determine the size of DNA fragments by number of base pairs

Cell Free Fetal Test

A non-invasive maternal blood test that analyzes DNA released by cells from the placenta into the mother’s blood during pregnancy to determine the possibility of chromosomal disorders

Anatomy Ultrasound

A non-invasive technique involving the formation of an image used for the examination and measurement of internal body structures and the detection of bodily abnormalities of the unborn fetus.

Quad Serum Screening

A non-invasive maternal blood screening done in the second trimester to determine the possibility of chromosomal abnormalities

Chorionic Villus Sampling

A technique for diagnosing genetic and congenital defects in their fetus by removing and analyzing a sample of the fetal portion of the placenta

Amniocentesis

A technique for determining chromosomal abnormalities, neural tube defects, or genetic disorders in a fetus by the presence of certain chemicals or defective fetal cells in the amniotic fluid, obtained by a hollow needle inserted into the uterus to extract amniotic fluid

Preimplantation Genetic Screening

Assisted reproductive technology that can determine genetic abnormalities in the IVF embryo before it is transferred into the uterus

hCGm PAPP-A Serum Screening

A non-invasive maternal blood screening in the first trimester to assess the possibility if chromosomal abnormalities

Nuchal Translucency (NT) Scan

A non-invasive technique that examines the sonographic appearance of the collection of fluid under the skin behind the fetal neck in the first trimester of pregnancy to determine the possibility of chromosomal abnormalities, cardiac defects, and other genetic syndromes