Flashcards
Glossary of Relevant Genetic and Molecular/Cell Biology. Tsang S.H. and Sharma T.
Cards in this deck (82)
- 1GenesThe basic physical and functional unit of heredity; made
up of DNA, they act as instructions to make proteins. - 2ChromosomeThread-like structures in the nucleus of each
cell, in which the DNA molecules and a protein called histone
are packaged - 3GeneticsThe study of genes, genetic variation, and heredity
in living organisms. - 4GenotypeThe genetic constitution of an individual.
- 5PhenotypeThe set of observable or manifest characteristics
of an individual due to an interaction of its genotype with the
environment. - 6GenomeThe complete set of genes or genetic material in
a cell. - 7CellBasic building block of living organisms
- 8CytoplasmA jelly-like fluid (cytosol) within each cell; it
contains many organelles - 9Endoplasmic reticulumOrganelle that transports molecules created by the cell to their destination either inside or outside the ce
- 10Golgi apparatusOrganelle that packages molecules processed by the endoplasmic reticulum and transports them out of
the cell. - 11NucleusThe command center of a cell, which contains DNA
- 12MitochondriaOrganelle that produces energy through a
process called oxidative phosphorylation, creating adenosine triphosphate (ATP) from oxygen and simple sugars - 13RibosomesOrganelle in the cytoplasm that makes protein
- 14GDB Human Genome DatabaseThe official central
repository for genomic mapping data resulting from the Human
Genome Project. - 15DNA or deoxyribonucleic acidThe hereditary material in
humans and all other organisms. Nearly every cell has the same
DNA, located in the nucleus or mitochondria. The information
in the DNA is stored as a code made up of four chemical bases:
adenine (A), guanine (G), cytosine (C), and thymine (T). These
bases pair up with each other, A with T and C with G, to form
units called base pairs. - 16NucleotideEach base pair is attached to a sugar molecule
and a phosphate molecule; together, a base, sugar, and
phosphate are called a nucleotide. Nucleotides are the building
block of DNA. - 17DNA structureNucleotides are arranged in two long strands
that form a spiral (double helix). The structure of the double
helix is like a ladder, with the base pairs forming the ladder’s
rungs and the sugar and phosphate molecules forming the vertical sidepieces of the ladder. - 18Human genomeEach cell contains approximately 3 billion
base pairs, which reside in the 23 pairs of chromosome within
the nucleus. Each chromosome contains hundreds to thousands
of genes, which carry the instructions for making proteins. - 19DNA sequenceThe order or sequence of the bases determines the information available for building and maintaining an
organism, similar to the way in which letters of the alphabet
appear in a certain order to form words and sentences. - 20Mitochondrial DNA37 genes: 13 provide
instructions for making enzymes involved in oxidative phosphorylation, and the others provide instructions for making molecules called transfer RNAs (tRNAs) and ribosomal RNAs
(rRNAs), both of which help assemble protein building blocks
(amino acids) into functioning proteins. - 21AneuploidyA gain or loss of a chromosome from the normal
46 is called aneuploidy. - 22TrisomyHaving three copies of a particular chromosome in
cells instead of the normal two copies. - 23MonosomyHaving one copy of a particular chromosome in
cells instead of the normal two copies. - 24Gene mutationA permanent change or alteration in the
DNA sequence that makes up a gene. - 25Hereditary or germline mutationsMutations inherited
from a parent (via egg or sperm cells, called germ cells) and present in virtually every cell in the body throughout a person’s life - 26Acquired or somatic mutationMutation that occurs at
some time during a person’s life and is present only in certain
cells, not in every cell. These changes can be caused by environmental factors such as ultraviolet radiation or may result from a
mistake made as DNA copies itself during a cell division. These
mutations cannot be passed to the next generation. - 27De novo (new) mutationMutation can be either germline
or somatic. The germline mutation may occur in an egg, sperm
cell, or fertilized egg; this may explain why a genetic disorder is
present in a child, but the parents remain unaffected - 28Genetic disorderA condition caused by mutations in one or
more genes - 29DNA repairAn important process by which the body protects itself from disease. As DNA can be damaged or mutated in
many ways, each cell has a number of pathways/enzymes which
recognize and repair mistakes in DNA. - 30Beneficial mutationsA very small percentage of all mutations actually have a positive effect; a new version of proteins
may help an individual to adapt better to changes in the
environment. - 31Variants of unknown significanceBecause a person’s genetic code can have a large number of mutations with no effect on health, diagnosing a genetic
condition can be difficult. - 32Missense mutationA change in one DNA base pair (point
mutation, replacement of a single nucleotide) that results in the
substitution of one amino acid for another in the protein made
by a gene. - 33Nonsense mutationA change in one DNA base pair by
which the altered DNA sequence prematurely signals the cell to
stop building a protein. The result is a shortened protein that
may not function properly. - 34InsertionThe addition of one nucleotide, changing the amino
acid sequence that follows; hence, the protein may not function
properly - 35DeletionRemoval of one base pair or a few base pairs within
a gene (small deletion) or removal of an entire gene or several
neighboring genes (large deletion), altering the resulting
protein. - 36DuplicationAbnormal copying of a piece of DNA one or
more times. - 37Frameshift mutationThe addition or loss of DNA bases
that changes a gene’s reading frame (group of three bases that
code for one amino acid). Insertions, deletions, and duplications
can all be frameshift mutations. - 38Repeat expansionNucleotide repeats are short DNA
sequences that are repeated a number of times in a row. A trinucleotide repeat is made up of sequences of three base pairs,
and a tetranucleotide repeat is made up of sequences of four
base pairs - 39Complex of multifactorial disordersCommon medical
problems such as heart disease, diabetes, and obesity, which
are associated with multiple gene defects as well as lifestyle
and environmental factors, rather than having a single genetic
cause. - 40Gene namesThe HUGO Gene Nomenclature Committee
(HGNC) designates an official name and symbol (an abbreviation of the name) for each known human gene. - 41ProteinsLarge, complex molecules that do most of the work
in cells and are needed for the structure, function, and regulation of the body’s tissues and organs. Proteins are made up of
hundreds or thousands of smaller units called amino acids, the
building block of proteins - 42Gene expressionThe complex and tightly controlled journey from gene to protein within each cell; it involves two steps,
transcription and translation. - 43TranscriptionThe transfer of the information stored in a
gene’s DNA to another molecule (RNA) in the cell nucleus - 44TranslationIn the cytoplasm, the mRNA interacts with a specialized complex, a ribosome, which reads the sequence of
mRNA bases. - 45Central DogmaExplanation of the flow of information from
DNA to RNA to proteins; one of the fundamental principles of
molecular biology - 46Gene regulationEach cell expresses or turns ON only a
fraction of genes; the rest are repressed or turned OF - 47Transcription factorProtein activated by signals from the
environment or from other cells. - 48EpigenomeA multitude of the chemical compounds that surround the genome; these are not part of DNA sequence, but
are attached to DNA. These compounds can tell the genome
what to do and can affect gene activity - 49Epigenomic modification or methylationWhen methyl
groups are added to a particular gene, that gene is turned OFF
or silenced, and no protein is produced from that gene - 50Human Epigenome ProjectA multinational project with
the aim of identifying, cataloging, and interpreting genome-wide
DNA methylation patterns of all human genes in all major
tissues. - 51Cytogenetic location of a geneDescribing the location of
a particular gene on a chromosome. The cytogenetic location is
based on a distinctive pattern of bands created when chromosomes are stained with certain chemicals - 52Molecular location of a geneMolecular address that pinpoints the location of that gene in terms of base pairs, and also
the size of the gene. - 53Hereditary diseaseDisease that results from a particular
genetic composition and is passed from one generation to
another. - 54Genetic diseaseDisease caused by a genetic defect, either
acquired or inherited; not passed onto subsequent generations,
and therefore, not hereditary. - 55Familial diseaseDisease that occurs in more than one member of a family. It may be hereditary, but not necessarily
- 56Mendelian disorder (single-gene disorder)A trait or
medical disorder that follows patterns of inheritance suggesting
that it is determined by a gene at a single locus - 57Autosomal dominant inheritanceOne mutated copy of
the gene in each cell is sufficient for a person to be affected. - 58Autosomal recessive inheritanceBoth copies of the gene
in each cell must have mutations for the person to be affected. - 59X-linked recessive inheritanceInheritance of traits caused
by mutations in genes on the X chromosome. In males (who
have only one X chromosome), one altered copy of the gene in
each cell is sufficient to cause the condition - 60Codominant inheritanceTwo different versions (alleles) of
a gene are expressed at the same place on a chromosome, and
each version makes a slightly different protein - 61Mitochondrial or maternal inheritanceBecause only
egg cells contribute mitochondria to the developing embryo,
only females can pass on mitochondrial mutations to their children - 62Reduced or incomplete penetranceOnly some people
with a particular genetic change or mutation exhibit signs or
symptoms of the genetic disorder. - 63Variable expressivityA range of signs or symptoms occurring in different people with the same genetic condition.
- 64Clinical heterogeneityThe production of different phenotypes by different mutations at the same locus (location of a
gene on a chromosome) - 65Locus heterogeneityThe production of a similar phenotype
by mutations at different loci - 66Allelic heterogeneityThe production of the same phenotypic expression by different mutations within a single gene locus
- 67AnticipationThe tendency for the signs and symptoms of
some genetic conditions to become more severe and appear at
an earlier age as the disorder is passed from one generation to
the next - 68Digenic inheritanceSimultaneous inheritance of two nonallelic mutant genes
- 69Genetic testingA medical test that identifies changes in
chromosomes, genes, or protein - 70Molecular genetic test or gene testsStudy of single
genes or short lengths of DNA. - 71Chromosomal genetic testsAnalysis of whole chromosomes or long lengths of DNA.
- 72Biochemical genetic testsStudy of the amount or activity
level of proteins. - 73Positive genetic testLaboratory finding of a change in a particular gene, chromosome, or protein of interest.
- 74Negative genetic testFailure of the laboratory to find a
change in the gene, chromosome, or protein under consideration. - 75Uninformative or indeterminate test resultBecause
everyone has common, natural variations in their DNA (polymorphisms) that do not affect health, a genetic test may find a
change in DNA that has not been associated with a disorder in
other people, and it can be difficult to tell whether the change is
a natural polymorphism or a disease-causing mutation. - 76Open reading frameAny part of the genome that
could be translated into a protein sequence due to an absence
of stop codons - 77Single nucleotide polymorphismsThe most
common type of genetic variation among people. Each SNP
represents a difference in a single DNA building block, the
nucleotide - 78Genome-wide association studyMethod of
searching the genome for small variations, SNPs; these changes
occur more frequently in people with a particular disease than in
people without the disease - 79Whole exome sequencingTests just the exons
region (the exome), the protein-coding region of DNA that
gives instructions to make proteins - 80whole genome sequencingtests both the exome and introns
(non-coding region), as some DNA variations outside the
exome can affect the gene activity and protein production and
may lead to a genetic disorder - 81Gene therapyThe treatment or prevention of diseases by
inserting a gene into a patient’s cell instead of using drugs or surgery. - 82Precision medicineAn emerging approach for disease treatment and prevention that takes into account individual variability
in genes, environment, and lifestyle for each person
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- Bibliography. Tsang SH, Sharma T. Glossary of Relevant Genetic and Molecular/Cell Biology. Adv Exp Med Biol. 2018;1085:23-28
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- Ma. del Rocío Baños Lara
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