Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

From Flashcardlet > Genetics terminology > Flashcards

Genetics terminology Flashcards

0
Q

Define: amplicon

A

The amplified product of a PCR reaction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
1
Q

Define: Alleles

A

Alternative firms if a genetic locus

One allele for each locus is inherited from each parent

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Amplification:

A

An increase in number of copies of a specific DNA fragment e.g. During PCR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Autosome:

A

A chromosome NOT involved in sex determination

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Base:

A

The individual monomer in nucleic acids, comprising of deoxyribonucleotides or ribonucleotides in DNA or RNA respectively

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Base sequence:

A

Order of nucleotide bases in a DNA molecule

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Bioinformatics

A

The application of computers & computational expertise to analyse, visualise, catalogue and interpret large biological data sets in the context of the genome sequences of humans or other species

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Biomarker

A

A characteristic that can be objectively measured & evaluated as an indicator of normal biologic processes, pathogenic processes, pharmacological responses to therapeutic intervention

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Carrier

A

A person who had inherited a genetic trait or mutation but does not display the disease.
Trait may be passed to successive generations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

cDNA

A

Complementary or copy DNA synthesised from mRNA template using reverse transcriptase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Chromosome

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Complementary

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Complex disease

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Copy number variation

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Cytogenetic

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

DNA sequencing

A

Determination of the order of bases a DNA molecule

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Electrophoresis

A

A process by which molecules (e.g. Proteins, DNA fragments etc) can be separated according to size and electrical charge by applying an electric current to them.

  • each molecule travels through the medium at a different rate depending on its electrical charge and molecular size.
  • agarose and acrylamide gels commonly used
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Endonuclease

A

Enzyme that cleaves nucleic acid at internal sites

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Eukaryotes

A

Cell/organism with distinct membrane bound nucleus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Exon

A

Protein coding sequences of the gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Exonuclease

A

Enzyme cleaving nucleic acids sequentially from free end

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Expressed gene

A

Those genes transcribed into mRNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Gene

A

The basic physical, functional unit of heredity found in chromosomes.
A length of DNA carries the genetic information necessary for production of protein.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Gene expression

A

The process by which a gene is activated at a particular time and place so that it’s functional product is produced

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What genetic counselling involved ?

A
  • Assessment of heritable risk
  • consequences of disorder
  • chance of developing or transmitting it
  • how to cope with it
  • ways in which it can be treated, prevented, managed
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Genetic predisposition

A

Having some genetic factors that may make an individual more likely to develop a particular condition than the general population

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Genetic screening

A

Testing a population group to identify a subset of individuals at high risk for having or transmitting a specific genetic disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Genome

A

The unique genetic code or hereditary material of an organism, carried by a set of chromosomes in the nucleus of each cell

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Genotype

A

The specific genetic makeup of an individual at a particular locus in their genome.
Usually refers to the particular pair of alleles at a specific locus, however also used to indicate collective genotype at all points in the genome.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Haplotype

A

A particular combination of alleles or sequence variations that are closely linked (ie. likely to be inherited together) on the same chromosome.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Heterozygosity

A

The presence of different alleles at one or more loci on homologous chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Homozygosity

A

Presence of identical alleles at one or more loci on homologous chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Hybridisation

A

The process of joining two complementary strands of DNA, or one each of DNA and RNA, along their length to form a double stranded molecule

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Introns

A

Non-coding sequences which interrupt the protein coding sequences of a gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Karyotype

A

Metaphase chromosomes from an individual arranged in a standard format

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Ligase

A

Enzyme that can rejoin a broken phosphodiester bond in nucleic acid- requires a 5’ phosphate and 3’ hydroxyl group in immediate adjacent nucleotides

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Linkage

A

The close proximity of two or more genetic markers on a chromosome

37
Q

Locus

A

The specific site on a chromosome at which particular gene or other DNA landmark is located

38
Q

Microarray

A

Aka gene chip or DNA chip

Technology enabling the detection if gene expression levels or detection of SNPs within the genome

39
Q

Marker/genetic marker

A

An identifiable physical location on a chromosome, the inheritance of which can be assessed (by genotyping) e.g. Microsatellites and SNPs

40
Q

Microsatellite

A

Short tandem repeats of nucleotide sequences.
The tandem units can be dinucleotide, tri- or tetra-.
Unstable during DNA replication and vary in number of repeats.
Size measured using primer pairs that can amplify target e.g. PCR

41
Q

mRNA (messenger)

A

RNA that is a template for protein synthesis

42
Q

Mutation

A

A change to nucleotide sequence of the genetic material of an organism, compared to a standard reference sequence.

43
Q

Oligonucleotide

A 
A short (<30 bases) single stranded polymer - either DNA or RNA 
Often refers to chemically synthesised primers used for PCR
44
Q

PCR

A

In vitro technique for rapidly synthesising large quantities of a given targeted DNA segment.

45
Q

Penetrance

A

The likelihood that a person carrying a particular mutant gene will have an altered phenotype such as a genetic disorder

46
Q

Pharmacogenetics

A

The study of the way in which variations in individual genes affects drug metabolism and responsiveness - application to clinical practice

47
Q

Phenotype

A

The observable properties and physical characteristics of an organism based on a combination of genetic traits and environmental factors

48
Q

Polymerase

A

Enzyme that catalyses synthesis of DNA or RNA from a single stranded template and free deoxynucleotides e.g, during PCR

49
Q

Polymorphism

A

A difference in DNA sequence occurring in at least 1% of the population

50
Q

Polygenic trait

A

Trait affected by many genes, with no one gene having a large influence

51
Q

Primer

A

A short pre-existing single-stranded oligonucleotide chain to which new deoxyribonucleotides can be added by DNA polymerase (e.g. To prime PCR amplification)

52
Q

Probe

A

Single stranded DNA or RNA molecule used to detect its complementary base sequence by hybridisation

53
Q

Prokaryote

A

Cell or organism lacking a distinct membrane bound nucleus

54
Q

Proteome

A

The complete set of proteins encoded by the genome

55
Q

Pseudogene

A

A region of DNA that shows extensive similarity to a know gene,but which cannot itself function

56
Q

Recombinant DNA

A

A combination of DNA molecules of different origin

57
Q

Recombination

A

The process by which DNA is exchanged between pairs of equivalent chromosomes (homologues) during meiosis

58
Q

RNA

A

Chemical copied from DNA on an individuals chromosome (transcription), that carries the genetic information required to produce cellular proteins

59
Q

Sensitivity (of a clinical test)

A

The proportion of individuals with a disease phenotype who test positive.
True positive rate
The proportion of actual positives which are correctly identified as such

60
Q

SNP

A

“Single nucleotide polymorphism”
A variation in a DNA sequence that occurs when a cringe nucleotide in a genome is altered in at least 1% of the population
- the human genome contains approximately 10 million SNPs

61
Q

Southern blotting

A

A technique to transfer electrophoretically separated fragments of DNA, after denaturation, from the gel to an absorbent sheet of material, to which the DNA binds.
The sheet is immersed in a solution containing a labelled probe that will hybridise to fragments of interest.
Similar methods used to transfer RNA to papers followed by hybridisation or labelled antibody treatment to identify specific molecules

62
Q

Specificity (of a clinical test)

A

The proportion of individuals without a disease phenotype, who test negative.
True negative rate.
Proportion of healthy people correctly identified as not having the disease.

63
Q

Tandem repeats

A

Multiple copies of the same sequence on a chromosome, often found in micro satellite markers

64
Q

Transcriptome

A

The complete set of RNAs transcribed from a genome

65
Q

Expressivity

A

Variation in expression- the extent to which a heritable trait is manifested by individuals

66
Q

Anticipation

A

The symptoms of a genetic disorder become apparent at an earlier age as it is passed from one generation to another
In most cases severity also increases
E.g.myotonic dystrophy, huntingtons

67
Q

De novo mutation

A

A new mutation that has occurred during gametogenesis or in early embryonic development

68
Q

Incomplete penetrance

A

Clinical symptoms not always present in individuals who have the disease-causing mutation
E.g. Breast cancer, BRAC1 gene - an autosomal dominant condition showing incomplete penetrance, penetrance =80%

69
Q

Co-dominance

A

When the contributions of both alleles are visible in the phenotype e.g. ABO blood group- chemical modifications to a glycoprotein (H antigen) on surfaces of blood cells are controlled by 3 alleles (ABO), 2 of which are co-dominant to one another (A and B)

70
Q

Reverse transcriptase

A

Enzyme used to generate complementary DNA (cDNA) from an RNA template - process = reverse transcription.
RT needed for replication of retroviruses, and RT inhibitors widely used in antiretroviral drugs.
RT activity also associated with replication of chromosome ends (telomeres)

71
Q

Caretaker gene:

A

A class of tumour suppressor gene ( the other being gatekeeper).
Encode products that stabilise the genome
Mutations in these genes lead to genomic instability

72
Q

Gatekeeper gene

A

Class of tumour suppressor gene
Prevents growth of potential cancer cells and prevents accumulation of mutations which could lead to increased cell proliferation

73
Q

Landscaper gene

A

Class of tumour suppressor gene
Encode gene products that control micro environment in he hitch cells grow, if mutated could contribute to neoplastic growth - unregulated cell proliferation

74
Q

Oncogene

A

Activated oncogenes can cause cells designated for apoptosis to survive and proliferate instead - potential to cause cancer

75
Q

Protooncogene

A

Code for proteins that help regulate cell growth and differentiation
Signal transduction & mitogenic signals
A normal gene that can become an oncogene via mutation or increased expression

76
Q

Pharmakinetics

A

What the body does to the drug

77
Q

Pharmacodynamics

A

What he drug does to the body

78
Q

Stratified medicine

A

Selecting therapies for groups of patients with sheared biological characteristics

79
Q

Germline

A

Hereditary

80
Q

Somatic

A

Acquired, in non-Germaine cells, not hereditary

81
Q

Thiomethyltransferase

A

Enzyme that can deactivate some drugs e.g. Azathiprine (immunosuppressant) and chemotherapies - relevant in pharmacokinetics

82
Q

N-Acetyltransferase

A

Group of liver enzymes inactivating drugs by acetylation

83
Q

restriction endonuclease

A

an enzyme produced chiefly by certain bacteria, that has the property of cleaving DNA molecules at or near a specific sequence of bases

84
Q

Define aneuploidy

A

Chromosome number not an exact multiple of the haploid number
E.g. Gain (trisomy) or loss (monosomy)

85
Q

Define polyploidy:

A

Gain of whole sets of chromosomes

E.g. Triploidy, tetraploidy

86
Q

Define mosaicism:

A

Composed if cells of two genetically different types

E.g. Diploidy, aneuploidy

87
Q

Define digyny

A

Diploid ovum fertilised by a monopolies sperm - resulting in triploidy

88
Q

Define diplospermy

A

When a haploid ovum is fertilised by a diploid sperm- resulting in triploidy

89
Q

Define dispermy

A

Penetration of an ovum by 2 spermatozoa - resulting in tri ploidy

90
Q

What is a molar pregnancy

A

Abnormal pregnancy where a non-viable fertilised ovum implants in uterus- will fail to come to term
Characterised by either partial or complete hydatidiform mole

91
Q

Define uni parental disomy (UPD)

A

When a person receives two copies of a chromosome, or part of a chromosome, from one parent and none from the other.

From Flashcardlet (22 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions