Brainscape's Knowledge GenomeTM

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


See full index

Molecular Diagnostics > Clinical Genetics 2 > Flashcards

Clinical Genetics 2 Flashcards

1
Q

Promoters

A

A combination of short sequence elements, usually just upstream of a gene, to which RNA polymerase binds so as to initiate transcription of the gene.

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

Transcription Factor

A

DNA-binding protein that promotes the transcription of genes. Some are ubiquitous, promoting transcription in all cells, but many are tissue-specific.

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

Exon Skipping

A

An occasional failure when one or more full-length exons are not represented in some transcripts.

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

Isoforms

A

Alternative form of a protein produced from individual genes as a result of a differential expression or through the production of different but highly related proteins from two or more loci.

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

siRNA

A

Short Interfering RNA. Double-stranded RNA molecule 21-22 nucleotides long that can dramatically shut down the expression of genes through RNA interference.

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

Gene Silencing

A

Gross reduction in gene expression that occurs naturally by altering epigenetic settings, and that can occur both naturally and artificially through RNA interference.

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

Epigenetic Marks

A

Epigenetic settings. Patterns of epigenetic modification, notably DNA methylation, histone modifications, and nucleosome spacing.

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

Chromatin Remodeling

A

Movement, dissociation, or reconstitution of nucleosomes in chromatin, as part of the systems controlling chromatin conformation.

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

CpG Island

A

Short stretch of DNA, often less than 1kb long, containing frequent unmethylated CpG dinucleotides. CpG islands tend to mark the 5’ regions of genes.

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

Epimutation

A

An abnormal epigenetic change. A change in chromatin organization that causes a change in expression of one or more genes without any change to the DNA sequence.

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

Synonymous Substituition

A

Silent substitution. A mutation that does not change the amino acid sequence, but sometimes causes altered splicing and disease.

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

Nonsynonymous Substitution

A

A mutation that causes a change in the amino acid sequence.

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

Missense Mutation

A

A mutation that causes a change in the amino acid sequence.

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

Conservative Substitution

A

A nucleotide substitution that changes the amino acid sequence by one of the same chemical class and often has minimal consequences.

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

Nonsense Mutation

A

A nucleotide substitution that replaces an amino acid with a stop codon.

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

Cryptic Splice Site

A

A sequence in pre-mRNA with significant homology to a splice site. May be used as splice sites when splicing is disturbed or after a base substitution mutation that increases the resemblance to a normal splice site.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Nonsense-mediated Decay

A

NMD. A mRNA surveillance mechanism that degrades most mRNA transcripts that have a premature stop codon, more than 50 nucleotides upstream from the last splice junction.

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

Unequal Crossover

A

UEC.

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

Dynamic Mutations

A

An unstable dynamic repeat that changes in size between parent and child.

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

Fragile Sites

A

Located on a chromosome where the chromatin of metaphase chromosomes can appear condensed under certain culture conditions.

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

Premutation Allele

A

Among diseases caused by dynamic mutations, a repeat expansion that is large enough to be unstable on transmission but not large enough to cause disease.

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

Unequal Crossover

A

UEC. One chromatid with an insertion and one with a deletion.

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

Unequal Sister Chromatid Exchange

A

UESCE. An exchange between sister chromatids where one chromatid with an insertion and one with a deletion.

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

Direct Repeats

A

Two or more copies of a sequence that occur in the same 5’ to 3’ direction on a single DNA strand. Usually used to mean repeats that are separated on the DNA; repeats that are directly adjacent to one another are normally described as tandem repeats.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Constitutional Mutation

A

Present in the genetic material of the zygote, and therefore present in every nucleated cell of a person.

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

Mosaic

A

An individual who has two or more genetically different cell lines derived from a single zygote. The difference may be point mutations, large-scale mutations, or chromosomal abnormalities.

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

Derivative Chromosome

A

A chromosome that has been structurally rearranged.

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

Isochromosome

A

An abnormal symmetrical chromosome consisting of two identical arms.

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

Nondisjunction

A

Chromosomes fail to separate during Anaphase I.

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

Chimera

A

An organism derived from more than one zygote.

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

Anaphase Lag

A

Can result in aneuploidy, when a chromosome or chromatid is delayed in its movement during anaphase and lags behind the others.

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

Null Allele

A

Any mutant allele where the normal gene product is not made or is completely non-functional.

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

Dosage-sensitive

A

A chromosomal gene that, when present in one copy instead of the normal two copies (causing reduced expression), is associated with disease. Disease can also sometimes result from an increased number of copies (with consistent overexpression).

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

Haploinsufficiency

A

A locus shows haploinsufficiency if producing a normal phenotype requires more gene product than the amount produced by a single functional allele.

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

Dominant-negative Effect

A

The situation in which a mutant protein interferes with the function of its normal counterpart in a heterozygous person.

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

Homoplasmy

A

Of a cell or organism, having all copies of the mitochondrial DNA identical, as opposed to heteroplasmy.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Heteroplasmy

A

Mosaicism, usually within a single cell, for mitochondrial DNA variants.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Modifier Genes

A

A gene whose expression can influence a phenotype resulting from a mutation at another locus.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Haplotype

A

A series of alleles at two or more neighboring loci on a single chromosomal DNA molecule.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Recombinants

A

In linkage analysis, a gamete that contains a haplotype with a combination of alleles that is different from the combination that the parent had inherited.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Lod Score

A

A measure of the likelihood of genetic linkage between loci. The log base (base 10) of the odds that the loci are linked (with recombination fraction q) rather than unlinked. For Mendelian characters a lod score greater than +3 provides minimal evidence of linkage; one that is less than -2 is evidence against linkage.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Autozygosity

A

In an inbred person, homozygosity for alleles identical by descent.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Quantitative Trail Loci

A

QTL. A locus that contributes to determining phenotype of a continuous character.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Susceptibility Factor

A

A variant that provides increased risk of developing a specific disease.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

Phenocopies

A

A person or organism that has a phenotype normally caused by a certain genotype but does not have that genotype. Phenocopies may be the result of a different genetic variant, or of an environmental factor.

46
Q

Heritability

A

The proportion of the causation of a character that is due to genetic causes.

47
Q

Risk Ratio

A

The disease risk to a relative of an affected person divide by the disease risk to an unrelated person.

48
Q

Innate Immune System

A

System of nonspecific response to a pathogen using the natural defense of the body, as opposed to the adaptive immune system.

49
Q

Association

A

A tendency of two characters (such as diseases or marker alleles) to occur together at nonrandom frequencies. A simple statistical observation, not a genetic phenomenon, but can be caused by linkage disequilibrium.

50
Q

Case-control Studies

A

A study in which samples from affected individuals (cases) are analyzed and compared with equivalent samples from unaffected control individuals.

51
Q

Odds Ratio

A

In case-control studies, the relative odds of a person with or without a factor under study being a case.

52
Q

Stratification

A

A population is stratified if it consists of several subpopulations that do not interbreed freely. Stratification is a source of error in association studies and risk elimination.

53
Q

Linkage Disequilibrium

A

A structural association between particular alleles at separate but linked loci, normally the result of a particular ancestral haplotype being common in the population studied. An important tool for high-resolution mapping.

54
Q

Haplotype Blocks

A

A region of DNA showing limited haplotype diversity.

55
Q

Sensitivity

A

The proportion of all true positives that the test is able to detect.

56
Q

Specificity

A

A measure of the performance of a test that assesses the proportion of all people who do not have the condition who are correctly identified as such by the test assay.

57
Q

Epistasis

A

Literally ‘standing above’. Gene A is epistatic to gene B if A functions upstream of B in a common pathway. Loss of function of A will cause all the effects of loss of function of B, and maybe other affects as well.

58
Q

Epigenome

A

The totality of epigenetic marks in a cell.

59
Q

Adaptive Immune System

A

Specific immune responses that rely on recognition of foreign antigen by antibodies and T-cell receptors.

60
Q

Augmentation Therapy

A

Therapy that is provided to the patient that supplements a severely depleted, or missing factor, thereby overcoming the deficiency and restoring function, as opposed to the great majority of drug therapies that are designed to inhibit some disease process.

61
Q

Pharmacogenetics

A

The study of the roles of specific genes on metabolism or function of drugs.

62
Q

Pharmacokinetics

A

The study of what the body does with, and to, the drug (drug absorption, activation, metabolism, and excretion).

63
Q

Pharmacodynamics

A

The study of how the person is affected by the drug.

64
Q

Prodrug

A

An inactive precursor to a therapeutic drug that is administered to a patient and activated within the body after natural conversion by a drug-metabolizing enzyme or other component.

65
Q

Intrabodies

A

Intracellular antibodies.

66
Q

Stem Cells

A

A cell that can act as a precursor to differentiated cells but retains the capacity for self-renewal.

67
Q

Transduction

A

Use of viruses to transfer DNA into human cells.

68
Q

Embryonic Stem (ES) Cell Lines

A

The first pluripotent stem cells to be developed. Immortal and can give rise to all cells.

69
Q

Reprogramming

A

Large-scale epigenetic changes to convert the pattern of gene expression in a cell to that typical of another cell type or cell state. Often occurs in cancer.

70
Q

Transdifferentiation

A

Epigenetic reprogramming of the nucleus of a cell, causing it to change from one cell type to another, such as from skin to a neuron.

71
Q

Dedifferentiation

A

Epigenetic reprogramming of a differentiated cell so that the cell becomes less specialized.

72
Q

Transit Amplifying Cell (TAC)

A

The immediate progeny by which stem cells give rise to differentiated cells.

73
Q

Blastocyst

A

An embryo at a very early stage of development when it consists of a hollow call of cells with a fluid-filled internal compartment.

74
Q

Inner Cell Mass (ICM)

A

A group of cells located internally within the blastocyst which will give rise to the embryo proper.

75
Q

Induced Pluripotent Stem (IPS) Cells

A

Somatic cells that have been treated with specific genes, gene products, or other agents to reprogram them to resemble pluripotent stem cells.

76
Q

Episome

A

Any DNA sequence that can exist in an autonomous (self-replicating) extrachromosomal form in the cell.

77
Q

Tropism

A

The specificity of a virus for a particular cell type, determined in part by the interaction of viral surface structures with receptors present on the surface of the cell.

78
Q

Retroviruses

A

Single-stranded RNA viruses with a reverse transcriptase function, that can be converted into complementary DNA.

79
Q

Transgenic Animal

A

An animal in which artificially introduced foreign DNA becomes stably incorporated into the germ line.

80
Q

Gene Targeting

A

Artificial genetic modificationon of a specific predetermined gene in intact cells, such as embryonic stem cells.

81
Q

Gene Knockout

A

The targeted inactivation of a predetermined gene within intact cells so as to artificially create a null allele.

82
Q

Gene Silencing

A

Gross reduction in gene expression that occurs naturally by althering epigenetic settings, and that can occur both naturally and artificially through RNA Interference.

83
Q

Gene Knockdown

A

Targeted inhibition of expression of a specific gene by various methods, for example using siRNA.

84
Q

Genome Editing

A

Artificial manipulation of an intact cell that is designed to make a double-strand break at just one locus and subsequently to make a desired change to the base sequence at that locus.

85
Q

Zinc Finger Nucleases

A

Synthetic enzymes that combine an endonuclease module with a sequence-specific targeting module, so as to cleave DNA at a selected sequence.

86
Q

Zinc Finger Nucleases

A

Synthetic enzymes that combine an endonuclease module with a sequence-specific targeting module, so as to cleave DNA at a selected sequence.

87
Q

Drug Efficacy

A

A drug’s capacity to produce an effect (such as lowering blood pressure).

88
Q

Poor Drug Metabolizer

A

Medication is broken down very slowly. May experience side effects at standard doses.

89
Q

Intermediate Drug Metabolizer

A

Slow rate of metabolism. May have too much medication at standard doses, potentially causing side effects.

90
Q

Ultrafast Drug Metabolizer

A

Medication is rapidly broken down. Medication may be removed from a patient’s system too quickly to provide symptom relief.

91
Q

Hybridoma

A

A method for producing large numbers of identical antibodies. This process starts by injecting a mouse with an antigen that provokes an immune response. A type of white blood cell, the B cell, produces antibodies that bind to the injected antigen. These antibody producing B-cells are then harvested from the mouse and, in turn, fused with immortal B cell cancer cells, a myeloma, to produce a hybrid cell line called a hybridoma, which has both the antibody-producing ability of the B-cell and the longevity and reproductivity of the myeloma.

92
Q

Effector Molecules

A

A small molecule that selectively binds to a protein and regulates its biological activity. Can also directly regulate the activity of some mRNA molecules (riboswitches).

93
Q

Gene Therapy

A

A technique that modifies a person’s genes to treat or cure disease.

94
Q

Germ-line Gene Therapy

A

Performing modifications on embryos in an attempt to forestall incurable diseases which arise from abnormal mitochondria.

95
Q

Somatic Cell Gene Therapy

A

The introduction of novel genetic material into somatic cells to express therapeutic gene products. This emerging technology holds great promise for the treatment of both inherited and acquired diseases.

96
Q

Somatic Cell Gene Therapy

A

The introduction of novel genetic material into somatic cells to express therapeutic gene products. This emerging technology holds great promise for the treatment of both inherited and acquired diseases.

97
Q

Zinc Finger Proteins

A

Amongst the most frequently occurring proteins.

98
Q

TALENS

A

Restriction enzymes that can be engineered to cut specific sequences of DNA. They are made by fusing a TAL effector DNA-binding domain to a DNA cleavage domain (a nuclease which cuts DNA strands). Transcription activator-like effectors (TALEs) can be engineered to bind to practically any desired DNA sequence, so when combined with a nuclease, DNA can be cut at specific locations. The restriction enzymes can be introduced into cells, for use in gene editing or for genome editing in situ, a technique known as genome editing with engineered nucleases. Alongside zinc finger nucleases and CRISPR/Cas9, TALEN is a prominent tool in the field of genome editing.

99
Q

Regenerative Medicine

A

The “process of replacing, engineering or regenerating human or animal cells, tissues or organs to restore or establish normal function”. This field holds the promise of engineering damaged tissues and organs by stimulating the body’s own repair mechanisms to functionally heal previously irreparable tissues or organs.

100
Q

Transgene

A

A gene which is artificially introduced into the genome of another organism.

101
Q

Transfection

A

The process of deliberately introducing naked or purified nucleic acids into eukaryotic cells. It may also refer to other methods and cell types, although other terms are often preferred: “transformation” is typically used to describe non-viral DNA transfer in bacteria and non-animal eukaryotic cells, including plant cells.

102
Q

Transfection

A

The process of deliberately introducing naked or purified nucleic acids into eukaryotic cells. It may also refer to other methods and cell types, although other terms are often preferred: “transformation” is typically used to describe non-viral DNA transfer in bacteria and non-animal eukaryotic cells, including plant cells.

103
Q

In Vivo

A

In a living organism.

104
Q

In Vitro

A

In a test tube, culture dish, or elsewhere outside a living organism.

105
Q

In Vitro

A

In a test tube, culture dish, or elsewhere outside a living organism.

106
Q

Recombinant DNA

A

DNA that has been formed artificially by combining constituents from different organisms.

107
Q

Integrating Viral Vector

A

Lentivirus and gammaretrovirus vectors. Fuse a fragment of their genetic material into the host cell genome. These vectors are often characterized by stable and long-term expression of the transgene.

108
Q

Graft Vs Host Disease

A

A common complication of an allogeneic stem cell transplant. It happens when the T-cells of the new immune system, recognize the recipient’s cells as foreign, and attack them. This causes a war between the ‘graft’ and the ‘host’.

109
Q

Non-Homologous End Joining

A

A pathway that repairs double-strand breaks in DNA. NHEJ is referred to as “non-homologous” because the break ends are directly ligated without the need for a homologous template, in contrast to homology directed repair, which requires a homologous sequence to guide repair.

110
Q

Homology Directed Repair

A

A mechanism in cells to repair double-strand DNA lesions. The most common form of HDR is homologous recombination. The HDR mechanism can only be used by the cell when there is a homologous piece of DNA present in the nucleus, mostly in G2 and S phase of the cell cycle.

Molecular Diagnostics (20 decks)

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