Medical Interventions 2.1 Vocab

Genes

Genes

A discrete unit of hereditary information consisting of a specific nucleotide sequence of DNA

Genetic counseling

A process of communication that deals with the occurrence or risk that a genetic disorder will occur in a family

Genome

The complement of an organism's genes; an organisms genetic material

Genetic testing

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

Karyotype

A display of the chromosome pairs of a cell arranged by size and shape

Polymerase chain reaction (PCR)

A technique that involves copying short pieces of DNA and then making millions of copies in a short period of time

Taq polymerase

A DNA synthesis enzyme that can withstand the high temperatures of PCR

Thermal cycler

An instrument that automatically cycles through different temperatures used to complete PCR reactions

Genotype

The genetic makeup of an organism

Phenotype

The physical and physiological traits of an organism

Single nucleotide polymorphism (SNP)

One base-pair variation in the genome sequence

Restriction enzyme

A degradative enzyme that recognizes specific nucleotide sequences and cuts up DNA

Primer

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

Chorionic villus sampling (CVS)

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

Amniocentesis

A technique for determining genetic abnormalities in a fetus by the presence of certain chemicals or defective fetal cells in the amniotic fluid, obtained by aspiration from a needle inserted into the uterus

Maternal Serum Screening

First trimester screening (hCG, PAPP-A), usually completed in conjunction with the NT ultrasound

Ultrasound

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.

Noninvasive Prenatal Screening

A test that screens a newborns DNA using the small fragments circulating in the pregnant parent's blood

Preimplantation Genetic Diagnosis (PGD)

In assisted reproductive technology, the determination of genetic abnormalities in the embryo before it is transferred to the uterus

Supernatant

The (usually) clear liquid left behind after a precipitate has been spun down to the bottom of a vessel by centrifugation

Anneal

To be capable of combining with complementary nucleic acid by a process of heating and cooling

Denaturation

In DNA, the separation of two strands of the double helix