Biology- Genetics (II)

Terms in this set (93)

Conservative mutation

A substitution where an amino acid is swapped for one of similar chemical properties.

Non-conservative mutation

A substitution where an amino acid is swapped for one with different chemical properties.

A sudden change in the structure or quantity of DNA in a cell

A mutation where one or more bases in a DNA sequence are affected.

Chromosome mutation

A mutation where there are changes in the number or structure of whole chromosomes

A gene mutation where one base is swapped for another.

A gene and frameshift mutation where a base is removed from a DNA sequence

A gene and frameshift mutation where a base is inserted into a DNA sequence.

Frameshift mutation

A mutation that changes how the triplet codes are read so that nearly every amino acid thereafter is incorrect.

A gene and frameshift mutation where a series of bases are repeated.

Nonsense mutation

A substitution mutation that causes a codon to be replaced by a stop codon so the polypeptide is too short.

Missense mutation

A substitution mutation where a codon is changed so that a different amino acid is produced.

Silent mutation

A substitution mutation that has no effect on the polypeptide due to the degeneracy of the genetic code.

Gene mutation where a group of bases separate and rejoin the same place in the DNA sequence back-to-front.

Gene mutation where a group of bases on one chromosome separate and join a non-homologous chromosome.

Non-disjunction mutation

A chromosome mutation where individual chromosomes fail to separate during meiosis, so the individual has an extra or missing chromosome.

A chromosome mutation where all homologous chromosomes fail to separate during meiosis, so the organism has an extra set(s) of chromosomes.

Differentiation

Process by which cells become specialised

Undifferentiated cells capable of dividing into more cells of the same type.

Stem cells that can differentiate into any cell type

Stem cells that can differentiate into nearly all cell types.

Stem cells that can differentiate into a few cell types

Stem cells that can differentiate into only one cell type

Unipotent stem cells that have been changed back into pluripotent stem cells through the use of transcriptional factors

Pre-initiation complex

Complex formed when transcriptional factors and other co-factors bind to the promoter region.

A molecular machine that removes the introns from pre-mRNA.

A receptor found attached to transcriptional factors that is complementary to the shape of oestrogen.

Transcriptional factors

Proteins that bind to the promoter region to initiate transcription.

Promoter region

A specific sequence of DNA found upstream of a target gene that initiates its transcription.

Terminator region

A region of DNA that stops transcription when RNA polymerase reaches it.

The study of the influence of environmental factors on heritable changes in the way DNA is coiled around histones.

The chemicals found on DNA and histones that form the epigenome.

The second layer to the genome made up of the tags found on DNA and histones.

The addition of CH3 groups to a molecule. In an epigenetic context, this molecule is cytosine.

The removal of COCH3 groups from a molecule

The addition of COCH3 groups to a molecule

Epigenetic silencing

When a gene is switched off due to increased methylation and deacetylation.

Methyl transferase

The enzyme that catalyses the methylation of cytosine

RNA interference

A way of preventing gene expression even when it has already been transcribed.

Short, double-stranded RNA segments totally complementary to target mRNAs that guide RISC to the mRNA to be cleaved.

Short, double-stranded RNAs where only the seed is complementary to the target mRNA.

An endonuclease protein that cleaves precursors to form siRNAs and microRNAs.

Protein that attaches to siRNAs or microRNAs and catalyses the cleavage of the target mRNA.

Strand of siRNA that binds to argonaut and the target mRNA.

The complex that cleaves target mRNA so it can't be translated and the gene cannot be expressed.

Part of a microRNA complementary to the target mRNA.

A group of diseases caused by a large mass of uncontrollably dividing cells with the potential to metastasise.

A large mass of uncontrollably dividing cells

A slow-growing tumour that doesn't metastasise

A rapidly growing, often life-threatening, tumour with the potential to metastasise

Adhesion molecules

Substances produced by benign tumour cells that stick them together so the tumour remains localised

The process in which a malignant tumour spreads around the body to form secondary tumours

A healthy gene that stimulates mitosis

Signalling proteins that trigger a cell to divide by mitosis

A mutated version of a proto-oncogene that causes accelerated cell growth and division and can lead to cancer

Programmed cell death

Tissue death due to disease, injury or poor blood supply

Tumour suppressor gene

Gene that inhibits mitosis, repairs DNA damage and triggers apoptosis in damaged cells

Single base variations associated with disease

Microsatellites

Short runs of repetitive base sequences used as genetic markers

Shotgun sequencing

Approach when a genome is split into sections, sequenced individually and then overlaid to piece them back together.

Gel electrophoresis

A technique used to separate DNA fragments based on size

A plasmid used for storing DNA fragments until needed

Sanger sequencing

A technique involving ddNTPs to produce different length strands of DNA that can then be pieced together to get the original base sequence

Nucleotides with fluorescent bases that terminate DNA replication if incorporated into the new strand.

Bonding to form double-stranded DNA

DNA polymerase sourced from thermophilic bacteria. Used in Sanger sequencing and PCR.

Genetic engineering

Obtaining a specific gene from one organism and placing it into another organism.

Describes an organism that has had a gene introduced into it from another organism

Recombinant DNA

Combined DNA from different sources

Medium which carries DNA from one cell to another

DNA made from mRNA using reverse transcriptase

Restriction endonucleases

Enzymes which cut DNA at a recognition sequence to leave blunt or sticky ends

Straight edges left behind on two DNA strands after it has been cut by a restriction endonuclease

Overhang of exposed, unpaired bases left behind on a DNA strand after it has been cut with a restriction endonuclease

Recognition sequence

The base sequence that determines where a restriction endonuclease cuts

Describes a recognition sequence with a base sequence that reads the same forwards and backwards

Machine that can synthesise a gene using oligonucleotides

Oligonucleotides

Small, overlapping single strands of nucleotides used to assemble a gene in the gene machine

Within a living organism

Process in which bacterial cells take up a plasmid containing cDNA

Technique used to allow a plasmid to cross the cell surface membrane of a bacterium

Replica plating

Technique used to identify bacterial colonies that have been transformed

A gene that is easily identifiable so can be used to test whether a bacterium has taken up a plasmid with cDNA

"In glass" I.e. Outside a living organism

An in vitro method of amplifying a DNA sample

In gene therapy, this is adding genes to faulty DNA

Supplementation

In gene therapy, this is using a healthy dominant allele to mask the effects of a faulty recessive allele

Short, single-stranded sections of DNA used to test for the presence of a particular allele in a sample of DNA.

Genetic screening

Using DNA probes to test for the presence of an allele in a patient's DNA.

Introns, the pattern of which is unique to almost every individual

Southern blotting

A technique used to transfer DNA from gel electrophoresis to a nylon membrane

Genetic fingerprinting

An analytical technique used to identify individuals based on their VNTR pattern.

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