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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
Describe a chromosome
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
Describe a clinical audit
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
Describe clinical practice guidelines
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
Define clonal
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
Define codon
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
Define cytogenetics
The study of chromosome structure. Fundamentals of Molecular diagnostics Bruns 2007
31
Define deletion
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
Define diploid
Having a full set of chromosomes. 22 paired autosomes and two sex chromosomes 46 chromosomes
33
Describe DNA binding proteins
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
Describe a DNA marker
A polymorphic locus ( a locus with variant alleles) that is easily assayed yielding reproducible results. Fundamentals of Molecular Diagnostics Bruns 2007
35
Define DNase
A enzyme (nuclease) that cleaves DNA
36
What is a dNTP.
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
Define electrophoresis
See teitz
38
Define endonuclease
Endonucleases are enzymes that cut DNA or RNA phophodiester bonds. E.g. Restriction enzymes
39
Define engraftment
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
Define epigenetics
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
Describe evidence based laboratory medicine.
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
Define exclusion
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
Define exon
Part of the coding region of a gene that codes for a gene product. It is transcribed into RNA and translated into protein.
44
Define exonuclease
An enzyme that removes terminal nucleotides from a polynucleotide, Taq polymerase has exonuclease activity
45
Describe external validity
The degree to which the result of a study can be generalized to other patients Fundamentals in molecular diagnostics Bruns 2007
46
Define extraction
The technique of removing nucleic acid from cells and other material e.g. Plasma, urine
47
Define FFPE
Formalin fixed parafin embedded tissue
48
Define gene
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
Define gene deletion
A circumstance in which all or part of a gene is lost Fundamentals of molecular diagnostics Bruns 2007
50
Describe gene dosage
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
Define gene duplication
A condition in which all or part of a gene is repeated Fundamentals of molecular diagnostics Bruns 2007
52
Define gene inversion
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
Define gene rearrangement
Relocation of a segment of DNA within a gene Fundamentals of molecular diagnostics Bruns 2007
54
Define genetic code
The complete list of nucleotide codons and the amino acids or actions they code Fundamentals of molecular diagnostics Bruns 2007
55
Define genome
The complete set of chromosomes. All of the hereditary information. Fundamentals of molecular diagnostics Bruns 2007
56
Define genotype
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
Define genotyping
Detection of specific genetic variants; some correlate with drug responses and other phenotypes Fundamentals of Molecular diagnostics Bruns 2007
58
Define haploid
Having a single set of chromosomes as in gamates, egg and sperm Fundamentals in Molecular diagnostics Bruns 2007
59
Define haploinsufficiency
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
Define haplotype
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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