Lesson 2.1 Genetic Testing and Screening Vocab- MI

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

Anneal

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

Carrier Screening

Indiscriminate examination of members of a population to detect heterozygotes for serious disorders

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

Denaturation

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

Gene

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

Genetic testing

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

Genome

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

Genotype

The genetic makeup of an organism

Karyotype

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

Newborn screening

The analysis of a neonate's blood for metabolic or genetic disorders to prevent mental retardation, disability or death

Phenotype

The physical and physiological traits of an organism

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

Preimplantation Genetic Diagnosis (PGD)

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

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

Restriction enzyme

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

Single nucleotide polymorphism (SNP)

One base-pair variation in the genome sequence

Supernatant

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

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

Ultrasonography

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