MI Unit 2

PLTW Medical Innovations Unit 2

Genetic testing

The use of molecular methods to determine if someone has a genetic disorder, will develop one, or is a carrier of a genetic illness.

Genes

The coding sections of DNA that provide instructions for building proteins and are responsible for traits such as hair color, eye color, blood type, and diseases.

Chromosomes

Tightly coiled DNA that holds genes and is inherited from parents. The human body contains 23 pairs of chromosomes.

Single-gene disorder

A change or mutation in one gene that can cause diseases like sickle cell anemia and cystic fibrosis.

Autosomal dominant trait

A trait where one copy of a gene passed to a child causes an effect in the child, such as dwarfism or Huntington's disease.

Autosomal recessive trait

A trait where a child must inherit the defective gene from both parents in order to express the trait, like sickle cell anemia and cystic fibrosis.

Sex-linked trait

A trait that is passed on the sex chromosomes (X or Y), with different rules for boys and girls. Disorders like colorblindness, Duchenne muscular dystrophy, and hemophilia are more common in males.

Multifactorial disorder

Disorders caused by multiple bad genes and environmental factors, such as breast cancer and common chronic illnesses like diabetes and Alzheimer's.

Mitochondrial disorder

Rare disorders caused by mutations in the DNA of mitochondria, which affects the production of ATP needed for cell processes. Only passed from mother to child.

Chromosomal disorder

Involves inheriting not enough or extra chromosomes, such as Down's syndrome (Trisomy 21) where a person has an extra copy of chromosome 21.

Carrier screening

A test done on adult couples to determine if they carry any diseases that could be passed on to their children.

Preimplantation genetic diagnosis (PGD)

A procedure used by people with known genetic conditions to select healthy embryos for implantation and prevent the inheritance of certain diseases.

Fetal screening/prenatal diagnosis

Genetic testing performed on fetuses while still in the womb to detect any genetic disorders. Methods include amniocentesis and chorionic villus sampling.

Newborn screening

Testing of infants shortly after birth to detect inherited diseases. Common tests include sickle cell, cystic fibrosis, and Tay Sachs.

Polymerase chain reaction (PCR)

A laboratory procedure that amplifies specific DNA sequences, allowing for multiple copies to be made. It involves denaturation, annealing, and extension steps.

Taq polymerase

The polymerase used in PCR to copy DNA.

PCR

Polymerase Chain Reaction, a technique used to amplify DNA.

Primer

A short DNA sequence that serves as a starting point for DNA synthesis.

Double-stranded DNA

DNA that consists of two complementary strands.

Exponential growth

Rapid increase in the amount of DNA during PCR.

Genetic testing

The process of analyzing DNA to determine the presence of specific traits or diseases.

Gel electrophoresis

A technique used to separate DNA fragments based on their size.

Centrifugation

A process of separating components of a mixture based on their density using high-speed spinning.

Chelex

A substance used to separate DNA from cell waste during DNA isolation.

Amplification

The process of making multiple copies of DNA using PCR.

Restriction enzymes

Enzymes that recognize specific DNA sequences and cut the nucleotide strands.

Single nucleotide polymorphisms (SNPs)

Tiny differences in the DNA of individuals that make them unique.

Agarose gel

A gel used in gel electrophoresis to separate DNA fragments.

Genotype

The genetic makeup of an individual, including the alleles they possess.

Phenotype

The observable characteristics of an individual resulting from their genotype.

Gene therapy

A treatment method that involves replacing faulty genes with functional copies.

Vectors

Vehicles used to deliver healthy genes to affected cells in gene therapy.

Reproductive cloning

Cloning to make a copy of an individual.

Therapeutic cloning

Cloning for the purpose of growing specific body parts for healing purposes.