Introductory Glossary For Molecular Medicine

Front 1

Allele

Back 1

One of the different forms of a gene that can exist at a single locus on a chromosome

Front 2

Autosomes

Back 2

All the chromosomes except the sex chromosomes found in somatic cells

Front 3

cDNA

Back 3

A single- stranded DNA complementary t an RNA from which it was synthesized using reverse transcriptase

Front 4

Clone

Back 4

A large number of cells or moleculesderived from a single ancesteral cell or molecule

Front 5

Denaturation

Back 5

Conversion from the doulbe-staranded to the single-stranded state, most often accomplished by heat

Front 6

Diploid set of chromosomes

Back 6

Contains two copies of each autosome and two sex chromosomes

Front 7

DNA (deoxyribonucleic acid)

Back 7

A double chain of linked nucleotides( having deoxyribose as their sugars); the fundamental unit of which genes are composed

Front 8

Eukaryotic cell

Back 8

A cell containing a nucleus

Front 9

Exons

Back 9

DNA sequences that are transcribed into protein structures

Front 10

Gene therapy

Back 10

Introduction of a fully functional and expressible gene into a target cell, aimed at correcting a specific disease permanently

Front 11

Gene

Back 11

Fundamental physical and functional unit of heredity; a segment of DNA that makes transcription possible

Front 12

Genetic code

Back 12

The correspondance between tripletes in DNA ( or RNA) and amino acids in protein

Front 13

Genome

Back 13

The complement of genetic information unique to each species of organism

Front 14

Haploid set of chromosoes

Back 14

One copy of each autosome and one sex chromosome characteristic of germ cells

Front 15

Heterozygone

Back 15

An individual with different alleles of a particular gene e.g. HbAS (sickle cell trait)

Front 16

Histone

Back 16

A type of basic protein that forms a unit around which DNA is tightly coiled in the nucleosomes of eukaryotic chromosomes

Front 17

Homozygone

Back 17

An individual with identical alleles for a particular gene e.g HbAA (normal) HbSS( sickle cell disease)

Front 18

Hybridization

Back 18

Variety of related techniques based on observation that two singlestranded nucleic acids of complementary base sequences will form a double stranded hybrid

Front 19

Hyperchromocity

Back 19

The increase in optical density that occurs when DNA is denatured

Front 20

Intros (intervening sequences)

Back 20

DNA that is transcribed but not translated into protein

Front 21

Karyotype

Back 21

The entire chromosomal complement of cell or species (as visualized during mitosis)

Front 22

Linkage

Back 22

The association of genes on the same chromosome

Front 23

Linkage disequilibrium

Back 23

A situation in which some combinations of genetic markers occur more or less frequently in the population than would be expected from their distance apart

Front 24

Locus chromosomal

Back 24

location of a gene or other piece of DNA

Front 25

Marker allele

Back 25

Any allele of interest in an experiment

Front 26

Marker DNA

Back 26

Fragment of known size used to calibrate an electrophoretic

Front 27

mRNA( messenger RNA)

Back 27

An RNA molecule transcribed from the DNA of a gene and from which a protein is translated by the action of ribosomes

Front 28

Missense

Back 28

A single base change mutation that alters an amino acid in the gene product

Front 29

Mutation

Back 29

A process that produces a gene or chromosome set different from that of the wild type or the result of such a process

Front 30

Nucleases

Back 30

Enzymes that can degrade nucleic acids by breaking the phosphodiester bonds

Front 31

Nucleotide

Back 31

A molecule composed of a base, a sugar and a phosphate group; the basic buiding bloc of nucleic acids

Front 32

Oncogene

Back 32

A gene that has sustained some genetic damage and, therefore produces a protein capable of cellular transformation

Front 33

Polymorphism

Back 33

A variation in DNA sequence within a population

Front 34

Prokaryotic cell

Back 34

A cell with no nucleur membrane. hence, no separate nucleus

Front 35

Proto-oncogene

Back 35

A gene whose protein product normally controls the cell cycle but has the capacity to induce celular transformation given it sustains some genetic insult.

Front 36

Restriction enzyme

Back 36

A bacterial endonuclease that recgnizes pecific base sequences in DNA and breaks the DNA chain at those points

Front 37

Ribosomes

Back 37

Complex of protein and ribosomal RNA (rRNA) that catalyzes the translation of mRNA into an amino acid sequence

Front 38

RNA (ribonucleic acid)

Back 38

A single stranded nucleic acid ( may fold back on itself to form double-stranded regions), having robose as sugar and uracil rather than thymine as one of its bases

Front 39

Splicing

Back 39

The removal of introns and joining of exons in RNA; introns are spliced out and exons are spliced together

Front 40

tRNA

Back 40

A class of small RNA; molecules that take specific amino acids to the ribosome during translation such that amino acids are inserted to form a polypeptide chain

Front 41

Wild type

Back 41

The genotpe or phenotype ound in nature or in a standard labrotory stock