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Genetic Glossary Terms Flashcards

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1
Q

ACMG

A

American College of Medical Genetics

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2
Q

Allele

A

Alternative form of a genetic locus; a single allele for each locus is inherited from each parent

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3
Q

Amino Acid

A

Any of a class of 20 molecules that are combined to form proteins in living things. The sequence of amino acids in a protein and hence protein function are determined by genetic code

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4
Q

Amniocentesis

A

Prenatal diagnosis method to obtain amniotic fluid for diagnostic purposes

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5
Q

Amplification

A

Any process which increases the number of copies of a specific DNA fragment; can be in vivo or in vitro

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6
Q

Autosomal dominant

A

A gene on one of the non-sex chromosomes that can be expressed, even if only one copy is present. The chance of passing the gene to offspring is 50% for each pregnancy

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7
Q

Autosome

A

A chromosome not involved in sex determination. The diploid human genome consists of a total of 46 chromosomes: 22 pairs of autosomes and 1 pair of sex chromosomes (the X and Y chromosome)

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8
Q

Base pair (bp)

A

two nitrogen bases (adenine and thymine or guanine and cytosine) held together by weak bonds. two strands of DNA are held together in the shape of a double helix by the bonds between base pairs

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9
Q

base sequence

A

the order of nucleotide bases in a DNA molecule; determines structure of proteins encoded by that DNA

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10
Q

candidate gene

A

a gene located in a chromosome region suspected of being involved in a disease

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11
Q

carrier

A

an individual who possesses a mutant allele but does not express it in the phenotype, either because of a dominant allelic partner or because the mutation is nonpenetrant

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12
Q

cell

A

the basic unit of any living organism that carries on the biochemical processes of life

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13
Q

chorionic villus sampling

A

an invasive prenatal diagnostic procedure involving removal of villi from the human chorion to obtain chromosomes and cell products for diagnosis of disorders in the human embryo

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14
Q

chromosome

A

in the eukaryotic nucleus, one of the threadlike structures consisting of chromatin which carries genetic information arranged in a linear sequence

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15
Q

clinical performance

A

a term encompassing clinical sensitivity, clinical specificity, penetrance and gene/environmental modifiers

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16
Q

clinical sensitivty

A

the proportion of individuals who do not have a specified clinical disorder and whose test results indicate that the disorder is not present

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17
Q

clinical utility

A

the value a test in diagnosing/ruling out a disease, in suggesting treatment or prevention strategies, and in evaluating risks and benefits associated with the test

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18
Q

clinical validity

A

the ability of a test to distinguish affected and unaffected populations, including a determination of the probability of being affected. the clinical sensitivity, specificity and predictive value of a test

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19
Q

clone

A

a genetically engineered exact copy of biological material such as a DNA segment, a whole cell or a complete organism

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20
Q

cloning

A

using specialized DNA technology to produce multiple, exact copies of a single gene or other segment of DNA to obtain enough material for further study. this process, used by researchers in the Human Genome Project, is referred to as cloning DNA. the resulting cloned (copied) collections of DNA molecules are called clone libraries. a second type of cloning exploits the natural process of cell division to make many copies of an entire cell. the genetic makeup of these cloned cells, called a cell line, is identical to the original cell. a third type of cloning produces complete, genetically identical animals such as the famous sheep, Dolly

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21
Q

complex trait

A

trait that has a genetic component that does not follow struct Mendelian inheritance. may involve the interaction of two or more genes or gene environment interactions

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22
Q

confirmatory testing

A

repeat testing generally performed to corroborate a positive test result

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23
Q

congenital

A

any trait present at birth, whether the result of a genetic or non-genetic factor

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24
Q

contiguous genes

A

genes physically close on a chromosome that, when acting together, express a phenotype

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25
Q

cytogenetics

A

the study of the physical appearance of chromosomes

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26
Q

deletion

A

the loss of a segment of the genetic material from a chromosome; can lead to a disease or abnormality

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27
Q

diagnostic test

A

a test performed to determine the presence or absence of a specific medical condition

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28
Q

DNA (deoxyrionucleic acid)

A

the molecule that encodes genetic information. DNA is a double-stranded molecule held together by weak bonds between base pairs of nucleotides. the four nucleotides in DNA contain the bases adenine (A), guantine (G), cytosine (C) and thymine (T). in nature, base pairs form only between A and T and between G and C; thus the base sequence of each single strand can be deduced from that of its partner

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29
Q

DNA probe

A

any biochemical used to identify or isolate a gene, a gene product or a protein

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30
Q

DNA sequence

A

the relative order of base pairs, whether in a DNA fragment, gene, chromosome, or an entire genome

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31
Q

DNA sequencing

A

in the plus and minus or primed synthesis method, DNA is synthesized in vitro in such a way that it is radioactively labeled and the reaction terminates specifically at the position corresponding to a given base; in the chemical method, single stranded DNA is subjected to several chemical cleavage protocols that selectively make breaks on one side of a particular base

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32
Q

dominant

A

an allele that is almost always expressed, even if only one copy is present

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33
Q

ELSI

A

ethical, legal and social implications (of Human Genome Project)

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34
Q

equivocal result

A

a test result that cannot be interpreted as either negative or positive

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35
Q

ethics

A

the study of fundamental principles which defines values and determines moral duty and obligation

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36
Q

eugenics

A

the study of improving a species by artificial selection; usually refers to the selective breeding of humans

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37
Q

exon

A

the protein-coding DNA sequence of a gene

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38
Q

false negative

A

does have the abnormality or disease and is incorrectly classified by the test

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39
Q

false positive

A

does not have the abnormality or disease and is incorrectly classified by the test

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40
Q

fluorescence in situ hybridization (FISH)

A

a physical mapping approach that uses fluorescein tags to detect hybridization of probes with metaphase chromosomes and with the less-condensed somatic interphase chromatin

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41
Q

gene

A

a hereditary unit that occupies a certain position on a chromosome; a unit that has one or more specific effects on the phenotype, and can mutate to various allelic forms. the fundamental physical and functional unit of heredity. a gene is an ordered sequence of nucleotides located in a particular position on a particular chromosome that encodes a specific functional product

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42
Q

gene amplification

A

any process by which specific DNA sequences are replicated disproportionately greater than their representation in the parent molecules; during development, some genes become amplified in specific tissues. repeated copying of a piece of DNA; a characteristic of tumor cells

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43
Q

gene product

A

the biochemical material, either RNA or protein, resulting from expression of a gene. the amount of gene product is used to measure how active a gene is; abnormal amounts can be correlated with disease-causing alleles

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44
Q

gene therapy

A

an experimental procedure aimed at replacing, manipulating, or supplementing nonfunctioning or misfunctioning genes with healthy genes

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45
Q

gene transfer

A

incorporation of new DNA into and organisms cells, usually by a vector such as a modified virus. used in gene therapy

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46
Q

genetic code

A

the sequence of nucleotides, coded in triplets (codons) along the mRNA, that determines the sequence of amino acids in protein synthesis. a genes DNA sequence can be used to predict the mRNA seuqnece, and the genetic code can in turn be use to predict the amino acid sequence

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47
Q

genetic counseling

A

the educational process that helps individuals, couples or families to understand gentic information and issues that may have an impact on them

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48
Q

genetic discrimination

A

prejudice against those who have or are likely to develop an inherited disorder

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49
Q

genetic engineering

A

altering the genetic material of cells or organisms to enable them to make new substances or perform new functions

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50
Q

genetic marker

A

a gene or other identifiable portion of DNA whose inheritance can be followed

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51
Q

genetic modifers

A

other genes that can influence the phenotype associated with the gene of interest

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52
Q

genetic polymorphism

A

difference in DNA sequence among individuals, groups or populations

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53
Q

genetic predisposition

A

a genotype that increases the risk but is insufficient to result in disease. impaired expression of alleles at other gene loci and/or environmental factors are needed before the disease appears

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54
Q

genetic screening

A

testing a group of people to identify individuals at high risk of having or passing on a specific genetic disorder

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55
Q

genetic testing

A

analyzing an individuals genetic material to determine predisposition to a particular health condition or to confirm a diagnosis of genetic disease

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56
Q

genetic variation

A

a phenotypic variability of a trait in a population attributed to genetic heterogeneity

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57
Q

genetics

A

the study of inheritance patterns of specific traits

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58
Q

genome

A

all the genetic material in the chromosomes of a particular organism; its size is generally given as its total number of base pairs

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59
Q

genome project

A

research and technology-development effort aimed at mapping and sequencing the genome of human beings and certain model organisms

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60
Q

genotype

A

the genetic constitution of an organism, either overall or at a specific locus, as distinguished from its physical appearance (its phenotype); the specific allelic composition of a gene, or set of genes, established at DNA level

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61
Q

Hardy-Weinberg Law

A

the concept that both gene frequencies and genotype frequencies will remain constant from generation to generation in an infinitely large, interbreeding population in which mating is at random and there is no selection, migration or mutation

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62
Q

homozygote

A

having two alleles on homologous chromosomes that are identical for a given gene

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63
Q

heterozygote

A

having two alleles on homologous chromosomes that are different for a given gene

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64
Q

human genome project

A

collective name for several projects begun in 1986 by the department of energy to create an ordered set of DNA segments from known chromosomal locations, develop new computational methods for analyzing genetic map and DNA sequence data, and develop new techniques and instruments for detecting and analyzing DNA. this DOE initiative is now known as this. the joint national effort, led by DOE and NIH, is known as this

65
Q

hybridization

A

the pairing of a single-stranded, labeled probe (usually DNA) to its complementary sequence

66
Q

in situ hybridization

A

the pairing of a single-stranded, labeled probe (usually DNA) to its complementary sequence within intact, banded chromosomes

67
Q

in vitro

A

studies performed outside a living organism such as in a laboratory

68
Q

in vivo

A

studies carried out using living organisms

69
Q

incidence

A

number or proportion or new cases of a specified condition in a population over a specified time period

70
Q

incomplete penetrance

A

the gene for a condition is present, but not obviously expressed, in all individuals with the gene in a family

71
Q

inherit

A

in genetics, to receive genetic material from parents through biological processes

72
Q

karyotype

A

a set of photographed, banded chromosomes arranged in order from largest to smallest in a standard format showing the number, size, and shape of each chromosome type; used in low-resolution physical mapping to correlate gross chromosomal abnormalities with the characteristics of specific diseases

73
Q

kilobase (kb)

A

unit of length for DNA fragments equal to 1000 nucleotides

74
Q

locus (pl. loci)

A

the position on a chromosome of gene or other chromosome marker; also the DNA at that position. the use of locus is sometimes restricted to mean expressed DNA regions

75
Q

megabase (Mb)

A

unit of length for DNA fragments equal to 1 million nucleotides

76
Q

Mendelian inheritance

A

one method in which genetic traits are passed from parents to offspring. named for Gregor Mendel, who first studied and recognized the existence of genes and this method of inheritance

77
Q

molecular biology

A

the study of the structure, function and makeup of biologically important molecules

78
Q

molecular genetics

A

the study of macromolecules important in biological inheritance

79
Q

monogenic disorder

A

a disorder caused by mutation of a single gene

80
Q

multifactorial

A

a characteristic influenced in its expression by many factors, both genetic and environmental

81
Q

mutation

A

any heritable change in DNA sequence. a process by which genes undergo a structural change

82
Q

nucleus

A

the cellular organelle in eukaryotes that contains most of the genetic material

83
Q

oligonucleotide

A

a molecule usually composed of 25 or fewer nucleotides; used as a DNA synthesis primer

84
Q

patent

A

in genetics, conferring the right or title to genes, gene variations, or identifiable portions of sequences genetic material to an individual or organization

85
Q

PCR

A

see polymerase chain reaction

86
Q

pedigree

A

a family tree diagram that shows how a particular genetic trait or disease has been inherited through many generations of a family

87
Q

penetrance

A

the frequency with which a genotype manifests itself in a specific phenotype; the proportion of individuals who manifest that genotype at the phenotypic level. for example, if 100 females have two D mutations and 70 have symptoms of the disorder, the penetrance is 70%

88
Q

phenotype

A

the biochemical, physiological and physical characteristics of an individual, as determined by the genotype and the environment in which it is expressed; also in a more limited sense, the expression of some particular gene or genes

89
Q

polymerase

A

any enzyme that catalyzes the formation of DNA or RNA from deoxyribonucleotides or ribonucleotides

90
Q

polymerase chain reaction (PCR)

A

a method for amplifying a DNA base sequence using a heat-stable polymerase and two 20-base primers, one complementary to the positive strand at one end of the sequence to be amplified and one complementary to the negative strand at the other end. because the newly synthesized DNA strands can subsequently service as additional templates for the same primer sequences, successive rounds of primer annealing, strand elongation, and dissociation produce rapid and highly specific amplification of the desired sequence. PCR also can be used to detect the existence of the defined sequence in a DNA sample

91
Q

polymorphism

A

frequently occurring (common), usually normal variation, in a defined nucleotide sequence. these in genes may result in protein polymorphisms. a protein polymorphism is said to occur when the most common allele has a frequency of no greater than 99%

92
Q

prevalence

A

the proportion of individuals in a population having a disease

93
Q

primer

A

short preexisting polynucleotide chain to which new deoxyribonucleotides can be added by DNA polymerase

94
Q

proband

A

individual in a family who brought the family to medical attention

95
Q

probe

A

single-stranded DNA or RNA molecules of specific base sequence, labeled either radioactively or immunologically, that are used to detect the complementary base sequence by hydridization

96
Q

protein

A

a large molecule composed of one or more chains of amino acids in a specific order; the order is determined by the base sequence of nucleotides in the gene that codes for the protein. proteins are required for the structure, function, and regulation of the body’s cells, tissues, and organs; and each protein has unique functions, examples are hormones, enzymes and antibodies

97
Q

public policy

A

a set of action guidelines or rules that results from the actions or lack of actions of governmental entities

98
Q

recessive gene

A

a gene which will be expressed only if there are 2 identical copies or, for a male, if 1 copy is present on the X chromosome

99
Q

recombinant DNA technology

A

procedure used to join together DNA segments in a cell-free system (an environment outside a cell or organism). under appropriate conditions, a recombinant DNA molecule can enter a cell and replicate there, either autonomously or after it has become integrated into a cellular chromosome

100
Q

restriction fragment length polymorphism (RELP)

A

variation between individuals in DNA fragment sizes cut by specific restriction enzymes; polymorphic sequences that result in RFLPs are used as markers on both physical maps and genetic linkage maps. RLFPs usually are caused by a mutation at a cutting site

101
Q

screening test

A

a test designed to identify subjects who are at sufficient risk of a specific disorder to benefit from further investigation or preventive action, among those who have not sought medical attention on account of symptoms of that disorder

102
Q

sensitivity

A

the proportion of individuals with the abnormality or disease that will have a positive test

103
Q

single nucleotide polymorphism (SNP)

A

DNA sequence variations that occur when a single nucleotide (A, T, C or G) in the genome sequence is altered

104
Q

single gene disorder

A

hereditary disorder caused by a mutant allele of a single gene

105
Q

Southern blotting

A

transfer by absorption of DNA fragments separated in electrophoretic gels to membrane filters for detection of specific base sequences by radio-labeled complementary probes

106
Q

specificity

A

the proportion of individuals without the abnormality or disease that will have a negative test

107
Q

syndrome

A

the group or recognizable pattern of symptoms or abnormalities that indicate a particular trait or disease

108
Q

trait

A

any detectable phenotypic property of an organism

109
Q

true negative

A

does not have the abnormality or disease and is correctly classified by the test

110
Q

true positive

A

does have the abnormality or disease and is correctly classified by the test

111
Q

validation

A

the action (or process) of proving that a procedure, process, system, equipment or method used works as expected and achieves the intended result (can be performed at both analytical and clinical level)

112
Q

verification

A

confirmation by examination and provision of objective evidence that specified requirements have been fulfilled

113
Q

wild type

A

the form of an organism that occurs most frequently in nature

114
Q

alternative splicing

A

use of different exons in formation of mRNA from initially identical transcripts. this results in the generation of related proteins from one gene, often in a tissue or developmental stage-specific manner

115
Q

candidate gene

A

a gene believed to influence expression of complex phenotypes due to known biological and/or physiological properties of its products, or to its location near a region of associated or linkage

116
Q

complementary DNA

A

a DNA copy of the messenger RNA (mRNA) transcribed from a gene. the cDNA is made from the mRNA using the enzyme reverse transcriptase

117
Q

codon

A

three bases in a DNA or RNA sequence that specify a single amino acid

118
Q

copy number variants

A

stretches of genomic sequence of roughly 1000 base pairs (1kb) to 3 million base pairs (3Mb) in size that are deleted or are duplicated in varying numbers

119
Q

comparative genomic hybridization

A

tech wherein a DNA test sample is competitively hybridized with a reference sample of DNA of known sequence to a DNA microarray, used to detect copy number changes in the test sample

120
Q

coverage

A

the number of times a portion of the genome is sequenced in a sequencing reaction. often expressed as “depth of coverage” and numerically as 1X, 2X, 3X etc.

121
Q

DNA barcoding

A

a method that uses a short genetic marker in a DNA sequence to identify it as belonging to a particular species or group of otherwise-related sequences

122
Q

exome

A

the entire portion of the genome consisting of protein-coding sequences (as opposed to introns or noncoding DNA between genes)

123
Q

exon

A

any segment of a gene that is represented in the mature messenger RNA (mRNA) product

124
Q

frame shift mutation

A

any mutation that disrupts the normal sequence of triplets causing a new sequence to be created that codes for different amino acid. frame shift mutations are usually caused by an insertion or deletion of DNA and typically eventually produce a premature stop codon

125
Q

GC content

A

the percentage of nucleotides in a DNA sequence that are either guanine (G) or cytosine (C)

126
Q

genome

A

the sum total of the genetic material of a cell or an organism

127
Q

genome-wide analysis

A

a genetic study evaluating the potential linkage of genetic markers located throughout the genome to a specific trait. this approach has been used for mendelian disorders as well as complex traits (genome-wide association study)

128
Q

genomics

A

the study of genes and their function

129
Q

genotype

A

the specific set of 2 alleles inherited at a genetic locus

130
Q

haplotype

A

the combination of linked marker alleles (may be polymorphisms or mutations) for a given region of DNA on a single chromosome

131
Q

HapMap

A

the international hapmap project developed a haplotype map of the human genome, the hapmap, that describes the common patterns of human DNA sequence variation. the hapmap is a key resource for finding genes affecting health, disease, and responses to drugs and environmental factors. the frist release of the hapmap was made in 2005

132
Q

hybridization

A

the bonding of single-stranded DNA or RNA into double-stranded DNA or RNS. the ability of complementary stretches of DNA or RNA to hybridize with each other is dependent on the base-pair sequence

133
Q

intron

A

a segment of DNA that is transcribed into RNA but is ultimately removed from the transcript by slicing together the sequences on either side (exons) to produce messenger RNA (mRNA)

133
Q

library

A

a complete set of clones that contains all the genetic material from an organism, tissue, or specific cell type at a specific stage of development

134
Q

linkage

A

two loci that reside close enough to each other that recombination rarely occurs between them. alleles at the 2 loci do not assort independently at meiosis but are likely to be inherited together

135
Q

locus (loci)

A

the physical site on the chromosome occupied by a particular gene or other identifiable DNA sequence characteristic

136
Q

Mendelian disorder

A

a trait or disease that follows the patters of inheritance that suggest the trait or disease is determined by a gene at a single locus

137
Q

methylation

A

covalent attachment of methyl groups to DNA, usually at cytosine bases.

138
Q

missense mutation

A

a mutation that is typically the change of a single nucleotide that results in the substitution of one amino acid for another in the final gene product

139
Q

mutation

A

any alteration of a gene or genetic material from its natural state. generally mutations refer to changes that alter the gene in a negative sense causing the protein product of the gene to have an altered function

140
Q

next generation/high-throughput sequencing

A

DNA sequencing technology that permits rapid sequencing of large portions of the genome; so called because it vastly increases the throughput over classic sanger sequencing

141
Q

nonsense mutation

A

any mutation that results directly in the formation of a stop codon

142
Q

oncogene

A

a gene, 1 or more forms of which is associated with cancer. many of these are involved, directly or indirectly, in controlling the rate of cell growth

143
Q

plasmid

A

circular extrachromosomal DNA molecules in bacteria that can independently reproduce. plasmids can be used as vectors in recombinant DNA research, and they can contain genes important to bacterial virulence such as antibiotic resistance in nature

144
Q

polymerase chain reaction

A

a procedure in which segments of DNA can be amplified using flanking oligonucelotides called primers and repeated cycles of replication by DNA polymerase

145
Q

polymorphism

A

difference in DNA sequence among individuals that may underlie differences in health. genetic variations occurring in more than 1% of a population would be considered useful polymorphisms for genetic linkage analysis. the vast majority of DNA polymorphisms are benign and not associated with a detectable phenotype

146
Q

proband

A

that affected person whose disorder, or concern about a disorder, brings a family or pedigree to be genetically evaluated

147
Q

promoter

A

the sequence of nucleotides located 5’ to the coding sequence of a gene that determines the site for binding of RNA polymerase and the initiation of transcription. more than 1 promoter may be present in a gene and may give rise to different versions of the protein

148
Q

pyrosequencing

A

a method of determining the ordering of nucleotide bases in a DNA molecule by measuring the synthesis of the complementary DNA strand

149
Q

quantitative PCR

A

a PCR-based lab technique that allows the accurate measurement of the amount of specific nucleic acids (usually RNA) in a sample

150
Q

read

A

a discrete segment of sequence information generated by a sequencing instrument; read length refers to the number of nucleotides in the segment

151
Q

recombination

A

the formation of a new set of alleles on a single chromosome that is not the same as either parent owing to a crossover during meiosis

152
Q

restriction fragment-length polymorphism (RELP)

A

a type of polymorphism that results from variation in the DNA sequence recognized by restriction enzymes. RFLPs can be used in linkage and gene association studies of traits and diseases

153
Q

single-nucleotide polymorphism (SNP)

A

DNA sequence variation that occur when a single nucleotide in the genome sequence is altered. SNPs are the most abundant variant in the human genome and are the most common source of gnetic variation, with more than 10 million SNPs present in the human genome, representing a density of 1 SNP for approximately every 100 bases

154
Q

stop codon

A

the DNA triplet that causes translation to end when it is found in messenger RNA. the DNA stop codons are TAG, TAA and TGA

155
Q

TagSNP

A

a readily measured SNP that is in string linkage disequilibrium with multiple other SNPs so that it can serve as a proxy for these SNPs on large-scale genotyping platforms

156
Q

translocation

A

a chromosomal segment that has been broken off and reinserted in a different place in the genome

157
Q

uniparental disomy

A

the inheritance of both parental copies of a chromosome from one parent and no homologous chromosome from the other parent. the resulting offspring could be affected with a recessive disease if the parent contributing both copies is a carrier

158
Q

variant of unknown significance (VUS)

A

genetic variant that cannot be definitively determined to be associated with a specific phenotype

Genetics (3 decks)

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