genetics test mutations

autopolyploid

more then 2 sets of chromosomes

allopolyploid

2 or more sets chromosomes from different species

euploid

normal chromosome number

aneuploid

abnormal chromosome number

triploid

additional set chromosome 69 3n

tetraploid

two additional sets chromosomes 4n 92

monoploid

only ½ number of chromosomes

monosomy

absence of one member of pair of chromosome

trisomy

an additional chromosome

cis acting

help transcription on the gene

trans acting

help transcription off the gene

nondisjunction

failure of chromosomes to separate

transcription

DNA→RNA

translation

RNA→amino acid

protenome

complete set of protiens

germline mutation

A gene change in a body's reproductive cell (egg or sperm) that becomes incorporated into the DNA of every cell in the body of the offspring. Germline mutations are passed on from parents to offspring.

somatic cells

diploid body cells

point mutation

a single base pair mutation. added, deleted, changed

substitution mutation

replaces one base resulting in any letter change

silent mutation

change in DNA has no change in amino acid

missense mutation

change in DNA makes different amino acid

nonsense mutation

change in DNA makes stop codon

frameshift mutation

insertion or deletion not in a multiple of 3 resulting in completely different amino acids

transition

point mutation that changes a purine nucleotide to another purine (A ↔ G), or a pyrimidine nucleotide to another pyrimidine (C ↔ T).

transversion

a point mutation in DNA in which a single (two ring) purine (A or G) is changed for a (one ring) pyrimidine (T or C), or vice versa

inversion

happens when a section of DNA breaks away and reattaches to the chromosome in a reversed order.

insertion

addition of 1 or more nucleotides

duplication

one or more extra copies of DNA is produced

recombinant DNA

made with fragments from 2 or more sources

restriction enzyme

protein that cleaves DNA at specific spots

restriction digest

a process in which DNA is cut at specific sites, dictated by the surrounding DNA sequence.

sticky end

overhangs of single-stranded DNA molecules after being cut with a restriction enzyme.

blunt end

The simplest DNA end of a double stranded molecule

selection medium

helps researchers identify their desired mutant host cell colonies during gene cloning. tell you which recipient host cells took up the vector versus those that did not

transformation

the genetic alteration of a cell resulting from the direct uptake and incorporation of exogenous genetic material from its surroundings through the cell membrane(s).

Electroporation

induced transmembrane voltage by means of an external electric field of sufficient strength causes an increase in the conductivity and permeability of biological cell membranes.

competent cells

a cell's ability to take up foreign (extracellular) DNA from its surrounding environment.

blue/white screening

a screening technique that allows for the rapid and convenient detection of recombinant bacteria in vector-based molecular cloning experiments

blue colony means

the plasmid in the bacteria does not contain the gene of interest.

white colony means

the bacteria is carrying recombinant plasmids

southern blotting

detect DNA

northern blotting

detect RNA

western blotting

detect Proteins

probe

single stranded DNA/RNA that is radioactive to identify a wanted DNA/RNA

Beta Globin

Mutation formes sickel cell

FISH

Fluorescence in situ hybridization