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Genetics in Medicine > Definitions > Flashcards

Definitions Flashcards

1
Q

Alleles

A

alternative forms of a genetic locus (one allele from each parent)

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2
Q

amplicon

A

the amplified product of a PCR reation

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3
Q

Amplification

A

an increase in the number of copies of a specific DNA fragment (e.g. during PCR)

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4
Q

Autosome

A

a chromosome not involved in sex determination

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5
Q

Base

A

the individual monomers in nucleic acids (deoxyribonucleotides or ribonucleotides in DNA or RNA respectively)

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6
Q

Base sequence

A

order of nucleotide bases in a DNA molecule

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7
Q

Bioinformatics

A

application of computers and computational expertise to analyse, visualise, catalogue and interpret large biological datasets in the context of the genome sequences of humans and other species

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8
Q

Biomarker

A

a characteristic that can be objectively measured and evaluated as an indicator of normal biologic processes, pathogenic processes, or pharmological responses to a therapeutic intervention

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9
Q

Carrier

A

a person who has inherited a genetic trait or mutation but does not display the disease

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10
Q

cDNA

A

complementary or copy DNA synthesise from a mRNA template using reverse transcriptase

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11
Q

Chromosome

A

A sub-cellular structure made up of tightly coiled DNA which contains many genes

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12
Q

Complementary

A

nucleic acid base sequences that can form a double stranded sequences structure by matching base pairs

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13
Q

Complex disease

A

a phenotype that results from the actions of multiple genes and their interaction with other factors such as lifestyle and the environment

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14
Q

Copy number variation

A

the differing number of copies of a particular DNA sequence in the genomes of different individuals

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15
Q

Cytogenetics

A

the study of the relationships between the structure and number of chromosomes and variation in genotype and phenotype

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16
Q

Diagnostic te#st

A

particular tests that are able to identify a recognised condition

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17
Q

DNA

A

‘deoxyribonucleic acid’ chemical comprise the genetic material of all cellular organisms

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18
Q

DNA sequencing

A

determination of the order of bases in a DNA molecule

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19
Q

Electrophoresis

A

a process by which molecules can be separated according to size and electrical charge by applying an electric current to them (each molecule travels through medium at different rate)

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20
Q

Endonuclease

A

an enzyme that cleaves a nucleic acid at internal sites

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21
Q

Eukarytote

A

cell or organisms with a distinct membrane bound nucleus

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22
Q

Exons

A

protein coding sequences of gene

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23
Q

Exonuclease

A

an enzyme that cleaves a nucleic acid sequentially from a free end

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24
Q

Expressed gene

A

those genes that are transcribed into mRNA

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25
Gene
basic physical and functional unit found in chromosomes
26
Gene expression
process where a gene is activated at a particular time and place so that its functional product is produced
27
Genetic counselling
providing an assessment of heritable risk factors and information to patients and their relatives concerning the consequences of a disorder, the chance of developing or transmitting it, how to cope and ways of preventions, treatment and management
28
Genetic predisposition
having some genetic factor(s) that may make an individual more likely to develop a particular condition than the general population
29
Genetic screening
testing a population group to identify a subset of individuals at high risk for having or transmitting a specific condition than the general population
30
Genetic test
an analysis performed on human DNA, RNA, genes and/or chromosomes to detect heritable or acquired genotypes
31
Genome
unique genetic code of hereditary material of an organism, carried by a set of chromosomes in the nucleus of each cell
32
Genotype
specific genetic makeup of an indivual at a particular location in their genome (usually refers to a particular pair of alleles at a specific locus)
33
Haplotype
a particular combination of alleles or sequence variations that are cloecly linked (ie are likely to be inherited together) on the same chromosome
34
Heterozygosity
the presence of different alleles at one or more loci on homologous chromosomes
35
Homozygosity
the presence of identical alleles at one or more loci on homologous chromosomes
36
Hybridisationn
the process of joining two complementary strands of DNA, or one each of DNA and RNA, along their lengths to form a double stranded molecule
37
Introns
non-coding sequences which interrupt the protein coding sequences of a gene
38
Karyotype
metaphase chromosomes from an individual arranged in a standard format
39
Ligase
an enzyme that can rejoin a broken phosphodiester bond in a nucleic acid; requires 5' phosphate and a 3' hydroxyl group in immediately adjacent nucleotides
40
Linkage
the close proximity of two or more genetic markers on a chromosome
41
Locus
the specific site on a chromosome at which a particular gene of other DNA landmark is located
42
Marker
an identifiable physical location on a chromosome, the inheritance of which can be assessed
43
Microarrary
(=gene chip/DNA chip) high throughput technology that enables the detection of gene expression levels or the detection of SNPs within the genome
44
mRNA
(messenger RNA) RNA that is a template for protein synthesis
45
Mutation
a change to the nucleotide sequence of the genetic material of an organism, compared to a standard reference sequence (in medical genetics, a mutation often means a change in the sequence that is disease-causing)
46
Nucleotide
one of the building blocks of DNA
47
Oligonucleotide
a short (
48
PCR
(polymerase chain reaction) an in vitro technique for rapidly synthesising large quantities of a given targeted DNA segment. Involves separating DNA into two complementary strands, binding a primer to each, then use heat stable DNA polymerase to create double stranded DNA from each single strand (process repeated to amplify the target sequence)
49
Penetrance
likelihood that a person carrying a particular mutant gene will have an altered phenotype such as a genetic disorder
50
Pharmacogenetics
study of the way in which variation in individual genes affects drug metabolism and responsiveness, and the application of this information into clinical practice
51
Phenotype
the observable properties and physical characteristics of an organism based on a combination of genetic traits and environmental factors
52
Polymerase
enzyme that catalyses the synthesis of DNA or RNA from a single stranded template and free deoxyribonucleotides
53
Polymorphism
a difference in DNA sequence amongst individuals in at least 1% of the population
54
Polygenic trait
a trait affected by many genes, with no one gene having a large influence
55
Prenatal test
procedure done to determine the presence of disease of defect in a foetus
56
Primer
a short, pre-existing single-stranded oligonucleotide chain to which new deoxyribonucleotides can be added by DNA polymerase
57
Probe
single stranded DNA/RNA molecule used to detect its complementary sequences by hybridisation
58
Prokaryote
cell or organism lacking a distinct membrane bound nucleus
59
Protein
molecule composed of amino acids linked together in a particular order specified by genes
60
Proteome
complete set of proteins encoded by the genome
61
Psuedogene
a region of DNA that shows extensive similarity to a known gene, but which cannot be itself function
62
Recombinant DNA
combination of DNA molecules of a different origin
63
Recombination
process by which DNA is exchanged between pairs of equivalent chromosomes (homologues) during meiosis
64
RNA
'ribonucleic acid' chemical that is copied from the DNA on an individuals chromosomes (transcription) that carried the genetic information required to produce cellular proteins
65
Sensitivity
proportion of individuals with a disease phenotype who test positive
66
SNP
'single nucleotide polymorphism' a variation in a DNA sequence that occurs when a single nucleotide in a genome is altered in at least 1% of the population
67
Southern blotting
a technique used to transfer electrophoretically separated fragments of DNA, after denaturation, from the gel to an absorbent sheet of material to which the DNA binds
68
Specificity
the proportion of individuals without a disease phenotype who test negative
69
Tandem repeats
multiple copies of the same sequence on a chromosome, often found in microsatellite markers
70
Transcriptome
the complete set of RNAs transcribed from the genome

Genetics in Medicine (2 decks)

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