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MLSCI 480 > Section 1 > Flashcards

Section 1 Flashcards

1
Q

Define Alteration

A

A variation in DNA sequence, benign or pathogenic

Fundamentals of Molecular Diagnostics
Bruns 2007

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2
Q

Describe amelogenin

A

The amelogenin gene is used for sex determination.
The male version is longer than the female version.
Found in tooth enamel.

Fundamentals of Molecular Diagnostics
Bruns 2007

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3
Q

Describe an amplicon

A

An amplicon is the product of a PCR reaction.

Fundamentals of Molecular Diagnostic
Bruns 2007

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4
Q

Define Aneuploidy

A

An abnormal number of chromosomes

Fundamentals of molecular diagnostics
Bruns 2007

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5
Q

Define anticipation

A

A progressive increase in severity and or onset of a genetic disorder in subsequent generations of a family.
Associated with trinucleotide repeat disorders

Fundamentals of Molecular Diagnostics
Bruns 2007

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6
Q

Define apoptosis

A

Programed cell death.
Involves the activation of casperases.
Characterized by a ladder pattern on gel electrophoresis.

Fundamentals of Molecular Diagnostics
Bruns 2007

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7
Q

Define autosomal dominant gene

A

A gene located on a non sex chromosome (autosome) that causes a specific phenotype even if only one copy is present and the copy of the other gene is present

Fundamentals of molecular diagnostics
Bruns 2007

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8
Q

Define allele

A

A form of a gene found at a specific location on a chromosome, one of a number of alternative forms of a gene at the same locus.

Fundamental of Molecular Diagnostic
Bruns 2007

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9
Q

Describe an autosomal dominant disorder.

A

An autosomal dominant disorder is caused by an autosomal dominant disease gene.
The disease gene is expressed in 50% of offspring if one parent is heterozygous.
The disease gene is expressed in 100% of offspring if one parent is homozygous.

Fundamentals in Molecular Diagnostics
Bruns 2007

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10
Q

Define autosomal recessive.

A

An autosomal recessive gene is a gene located on a non sex chromosome that causes the expression of a specific phenotype only if it is homozygous.

Fundamentals of Molecular Diagnostics
Bruns 2007

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11
Q

Define autosome

A

A non sex chromosome.
In humans there are 22 pairs of autosomes or 44 individual autosomes and 2 sex chromosomes.

Fundamentals of Molecular diagnostics
Bruns 2007

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12
Q

Describe a B lymphocyte

A

Immune cells involved in the production of antibodies

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13
Q

Describe DNA or RNA bases

A

The bases of DNA and RNA are planar carbon nitrogen ring structure.
There are two types: pyrimidines and purines.
Purines: adenine & guanine
Pyrimidines: cytosine & thymine

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14
Q

Describe a base pair

A

In double stranded DNA a purine forms hydrogen bonds with a pyrimidine in the opposite-complementary strand.
Adenine pairs with thymine (2 Hydrogen bonds)
Guanine pairs with cytosine (3 hydrogen bonds)
During transcription thymine is substituted with Uracil in pairing with adenine.

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15
Q

Describe statistical bias

A

Bias is a systemic error that occurs when there is consistent over or underestimation of a measured value.

Fundamentals of Molecular Diagnostics
Bruns 2007

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16
Q

What does the acronym BCR represent?

A

BCR: breakpoint cluster region

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17
Q

Describe BCR

A

BCR breakpoint cluster region.
A region on chromosome 22 that is a partner in a large proportion of chromosomal translocations involving ABL1 gene on chromosome 9.

Fundamentals of Molecular Diagnostics
Bruns 2007

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18
Q

Describe BCR-ABL

A

Is a result of a translocation involving chromosome 9 and 22.
It is a characteristic of chronic myeloid leukemia.

Fundamentals of Molecular Diagnostics
Bruns 2007

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19
Q

Describe buccal cells

A

Buccal cells are epithelial cells from the inner cheek (mouth).

Fundamentals of Molecular Diagnostics
Bruns 2007

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20
Q

Define and describe carcinoma

A

A carcinoma or neoplasm is a malignant growth.
It is of epithelial origin.
It tends to spread and infiltrate adjacent organs.

Fundamentals of molecular Diagnostics
Bruns 2007

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21
Q

Define and describe the function of centromere

A

A centromere is the location in the chromosome where it attaches to the spindle apparatus for proper chromosome segregation during cell division.

It consists of tandem repeats flanking sets of repeating units ( the higher order array.

Molecular Diagnostics
Buckingham 2007

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22
Q

Define chimera

A

A chimera is a person who has two genetical distinct type of cells.
This can be the result of a bone marrow transplant.

Fundamentals of Molecular Diagnostics
Bruns 2007

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23
Q

Define chimerism

A

The occurrence in an individual of 2 or more cell populations of different chromosomal constitutions derived from different individuals.

Genetic Home Reference 2015 Dec 13

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24
Q

Define chromatin

A

Chromatin is nuclear DNA and its associated structural proteins.

Fundamentals in Molecular diagnostics
Bruns 2007

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25
Q

Describe a chromosome

A

A chromosome is a highly ordered structure of a single, double stranded DNA molecule. The molecule of DNA is compacted many times with the assistance of DNA binding proteins.

Fundamentals of Molecular Diagnostics
Bruns 2007

26
Q

Describe a clinical audit

A

The review of case histories of patients against the benchmark of current best practice, used as a tool to improve clinical practice.

Fundamentals of Molecular diagnostics
Bruns 2007

27
Q

Describe clinical practice guidelines

A

Systemically developed statements to assist practitioner and patients decisions about appropriate health care for specific clinical circumstances.
In the lab, accuracy, precision, TAT

Fundamentals of Molecular Diagnistics
Bruns 2007

28
Q

Define clonal

A

Originating from a single progenitor that gives rise to progeny that are genetically identical to the parent cell.

Often refers to cancer cells with unregulated proliferation.

Fundamentals of Molecular diagnostics
Bruns 2007

29
Q

Define codon

A

A three nucleotide sequence that codes for an amino acid or stop during translation.
There are 64 codons in nuclear DNA.

Fundamentals of Molecular Diagnostics
Bruns 2007

30
Q

Define cytogenetics

A

The study of chromosome structure.

Fundamentals of Molecular diagnostics
Bruns 2007

31
Q

Define deletion

A

A DNA sequence that is missing in one sample compared to another.
A deletion can be a small as one nucleotide or as large as a whole chromosome.

Fundamentals of Molecular Diagnostics
Bruns 2007

32
Q

Define diploid

A

Having a full set of chromosomes.
22 paired autosomes and two sex chromosomes
46 chromosomes

33
Q

Describe DNA binding proteins

A

Proteins that bind to specific sequences of DNA; some of these proteins are involved in the regulation of transcription.

Fundamentals of Molecular Diagnostics
Bruns 2007

34
Q

Describe a DNA marker

A

A polymorphic locus ( a locus with variant alleles) that is easily assayed yielding reproducible results.

Fundamentals of Molecular Diagnostics
Bruns 2007

35
Q

Define DNase

A

A enzyme (nuclease) that cleaves DNA

36
Q

What is a dNTP.

A

dNTP are deoxyribonucleic acids triphosphate
They are composed of a carbon - nitogen planar ring, a ribose sugar and a triphosphate.
They are the building blocks of DNA

37
Q

Define electrophoresis

A

See teitz

38
Q

Define endonuclease

A

Endonucleases are enzymes that cut DNA or RNA phophodiester bonds.
E.g. Restriction enzymes

39
Q

Define engraftment

A

In hematopoietic cells transplantation, the process of i fused donor cells homing to the bone marrow of the recipient and producing blood cells of all types.

Fundamentals of molecular diagnostics
Bruns 2007

40
Q

Define epigenetics

A

Changes in the expression of a gene activity without altering the Gene structure

Genetics home reference

These processes include methylation, impriniting, histone modification, chromatin remodeling

Fundamentals of molecular diagnostics
Bruns 2007

Genetic structuresequence.

41
Q

Describe evidence based laboratory medicine.

A

The conscientious judicious and explict use of the best evidence in making decisions about the healthcare of individual patients.

Fundamentals in molecular diagnostics
Bruns 2007

42
Q

Define exclusion

A

Results of an identity test that indicate that the tested individual was not the contributor of the tested sample.

Fundamentals of molecular diagnostics
Bruns 2007

43
Q

Define exon

A

Part of the coding region of a gene that codes for a gene product. It is transcribed into RNA and translated into protein.

44
Q

Define exonuclease

A

An enzyme that removes terminal nucleotides from a polynucleotide,

Taq polymerase has exonuclease activity

45
Q

Describe external validity

A

The degree to which the result of a study can be generalized to other patients

Fundamentals in molecular diagnostics
Bruns 2007

46
Q

Define extraction

A

The technique of removing nucleic acid from cells and other material e.g. Plasma, urine

47
Q

Define FFPE

A

Formalin fixed parafin embedded tissue

48
Q

Define gene

A

The basic physical and functional unit of heredity.

Genetics home reference 2015 Dec 13

A unit of DNA that specifies production of RNA molecules which make proteins required for cellular function.

Fundamentals of molecular diagnostics
Bruns 2007

49
Q

Define gene deletion

A

A circumstance in which all or part of a gene is lost

Fundamentals of molecular diagnostics
Bruns 2007

50
Q

Describe gene dosage

A

The number of copies of a particular gene.
In most cases their are two copies of a gene, when there are more or less copies present an abnormal amount of protein production may occur.

Fundamentals in molecular diagnosis
Bruns 2007

51
Q

Define gene duplication

A

A condition in which all or part of a gene is repeated

Fundamentals of molecular diagnostics
Bruns 2007

52
Q

Define gene inversion

A

A rearrangement of the gene or part of the gene causing the orientation of the sequence of nucleotides to be reversed in relation to the flanking chromosomal DNA sequences

Fundamentals of molecular diagnistics
Bruns 2007

53
Q

Define gene rearrangement

A

Relocation of a segment of DNA within a gene

Fundamentals of molecular diagnostics
Bruns 2007

54
Q

Define genetic code

A

The complete list of nucleotide codons and the amino acids or actions they code

Fundamentals of molecular diagnostics
Bruns 2007

55
Q

Define genome

A

The complete set of chromosomes.
All of the hereditary information.

Fundamentals of molecular diagnostics
Bruns 2007

56
Q

Define genotype

A

The primary nucleotide sequences of two gene alleles.

Fundamentals of molecular diagnostics
Bruns 2007

The alleles at a specific locus on the chromosome whether or not they are expressed.

57
Q

Define genotyping

A

Detection of specific genetic variants; some correlate with drug responses and other phenotypes

Fundamentals of Molecular diagnostics
Bruns 2007

58
Q

Define haploid

A

Having a single set of chromosomes as in gamates, egg and sperm

Fundamentals in Molecular diagnostics
Bruns 2007

59
Q

Define haploinsufficiency

A

A situation in which an individual is clinically affected because of the absence of one of the 2 copies of a gene.
The remaining single copy of the normal gene is incapable of providing sufficient protein for normal function.

Fundamentals of molecular diagnostics
Bruns 2007

60
Q

Define haplotype

A

The association of specific alleles at multiple loci on a chromosome strand, haploid genotype

Fundamentals of molecular diagnostics
Bruns 2007

MLSCI 480 (3 decks)

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