Medical Interventions 2.1 Vocab

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Genes

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22 Terms

1

Genes

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

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2

Genetic counseling

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

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3

Genome

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

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4

Genetic testing

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

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5

Karyotype

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

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6

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

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7

Taq polymerase

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

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8

Thermal cycler

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

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9

Genotype

The genetic makeup of an organism

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10

Phenotype

The physical and physiological traits of an organism

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11

Single nucleotide polymorphism (SNP)

One base-pair variation in the genome sequence

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12

Restriction enzyme

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

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13

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

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14

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

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15

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

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16

Maternal Serum Screening

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

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17

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.

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18

Noninvasive Prenatal Screening

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

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19

Preimplantation Genetic Diagnosis (PGD)

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

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20

Supernatant

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

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21

Anneal

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

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22

Denaturation

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

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