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Description
Flashcards by Ma. del Rocío Baños Lara, updated more than 1 year ago
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Created by Ma. del Rocío Baños Lara
over 4 years ago
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| Question | Answer |
| Genes | The basic physical and functional unit of heredity; made up of DNA, they act as instructions to make proteins. |
| Chromosome | Thread-like structures in the nucleus of each cell, in which the DNA molecules and a protein called histone are packaged |
| Genetics | The study of genes, genetic variation, and heredity in living organisms. |
| Genotype | The genetic constitution of an individual. |
| Phenotype | The set of observable or manifest characteristics of an individual due to an interaction of its genotype with the environment. |
| Genome | The complete set of genes or genetic material in a cell. |
| Cell | Basic building block of living organisms |
| Cytoplasm | A jelly-like fluid (cytosol) within each cell; it contains many organelles |
| Endoplasmic reticulum | Organelle that transports molecules created by the cell to their destination either inside or outside the ce |
| Golgi apparatus | Organelle that packages molecules processed by the endoplasmic reticulum and transports them out of the cell. |
| Nucleus | The command center of a cell, which contains DNA |
| Mitochondria | Organelle that produces energy through a process called oxidative phosphorylation, creating adenosine triphosphate (ATP) from oxygen and simple sugars |
| Ribosomes | Organelle in the cytoplasm that makes protein |
| GDB Human Genome Database | The official central repository for genomic mapping data resulting from the Human Genome Project. |
| DNA or deoxyribonucleic acid | The 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. |
| Nucleotide | Each 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. |
| DNA structure | Nucleotides 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. |
| Human genome | Each 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. |
| DNA sequence | The 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. |
| Mitochondrial DNA | 37 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. |
| Aneuploidy | A gain or loss of a chromosome from the normal 46 is called aneuploidy. |
| Trisomy | Having three copies of a particular chromosome in cells instead of the normal two copies. |
| Monosomy | Having one copy of a particular chromosome in cells instead of the normal two copies. |
| Gene mutation | A permanent change or alteration in the DNA sequence that makes up a gene. |
| Hereditary or germline mutations | Mutations 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 |
| Acquired or somatic mutation | Mutation 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. |
| De novo (new) mutation | Mutation 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 |
| Genetic disorder | A condition caused by mutations in one or more genes |
| DNA repair | An 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. |
| Beneficial mutations | A 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. |
| Variants of unknown significance | Because a person’s genetic code can have a large number of mutations with no effect on health, diagnosing a genetic condition can be difficult. |
| Missense mutation | A 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. |
| Nonsense mutation | A 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. |
| Insertion | The addition of one nucleotide, changing the amino acid sequence that follows; hence, the protein may not function properly |
| Deletion | Removal 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. |
| Duplication | Abnormal copying of a piece of DNA one or more times. |
| Frameshift mutation | The 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. |
| Repeat expansion | Nucleotide 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 |
| Complex of multifactorial disorders | Common 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. |
| Gene names | The HUGO Gene Nomenclature Committee (HGNC) designates an official name and symbol (an abbreviation of the name) for each known human gene. |
| Proteins | Large, 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 |
| Gene expression | The complex and tightly controlled journey from gene to protein within each cell; it involves two steps, transcription and translation. |
| Transcription | The transfer of the information stored in a gene’s DNA to another molecule (RNA) in the cell nucleus |
| Translation | In the cytoplasm, the mRNA interacts with a specialized complex, a ribosome, which reads the sequence of mRNA bases. |
| Central Dogma | Explanation of the flow of information from DNA to RNA to proteins; one of the fundamental principles of molecular biology |
| Gene regulation | Each cell expresses or turns ON only a fraction of genes; the rest are repressed or turned OF |
| Transcription factor | Protein activated by signals from the environment or from other cells. |
| Epigenome | A 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 |
| Epigenomic modification or methylation | When methyl groups are added to a particular gene, that gene is turned OFF or silenced, and no protein is produced from that gene |
| Human Epigenome Project | A multinational project with the aim of identifying, cataloging, and interpreting genome-wide DNA methylation patterns of all human genes in all major tissues. |
| Cytogenetic location of a gene | Describing 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 |
| Molecular location of a gene | Molecular address that pinpoints the location of that gene in terms of base pairs, and also the size of the gene. |
| Hereditary disease | Disease that results from a particular genetic composition and is passed from one generation to another. |
| Genetic disease | Disease caused by a genetic defect, either acquired or inherited; not passed onto subsequent generations, and therefore, not hereditary. |
| Familial disease | Disease that occurs in more than one member of a family. It may be hereditary, but not necessarily |
| Mendelian 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 |
| Autosomal dominant inheritance | One mutated copy of the gene in each cell is sufficient for a person to be affected. |
| Autosomal recessive inheritance | Both copies of the gene in each cell must have mutations for the person to be affected. |
| X-linked recessive inheritance | Inheritance 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 |
| Codominant inheritance | Two different versions (alleles) of a gene are expressed at the same place on a chromosome, and each version makes a slightly different protein |
| Mitochondrial or maternal inheritance | Because only egg cells contribute mitochondria to the developing embryo, only females can pass on mitochondrial mutations to their children |
| Reduced or incomplete penetrance | Only some people with a particular genetic change or mutation exhibit signs or symptoms of the genetic disorder. |
| Variable expressivity | A range of signs or symptoms occurring in different people with the same genetic condition. |
| Clinical heterogeneity | The production of different phenotypes by different mutations at the same locus (location of a gene on a chromosome) |
| Locus heterogeneity | The production of a similar phenotype by mutations at different loci |
| Allelic heterogeneity | The production of the same phenotypic expression by different mutations within a single gene locus |
| Anticipation | The 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 |
| Digenic inheritance | Simultaneous inheritance of two nonallelic mutant genes |
| Genetic testing | A medical test that identifies changes in chromosomes, genes, or protein |
| Molecular genetic test or gene tests | Study of single genes or short lengths of DNA. |
| Chromosomal genetic tests | Analysis of whole chromosomes or long lengths of DNA. |
| Biochemical genetic tests | Study of the amount or activity level of proteins. |
| Positive genetic test | Laboratory finding of a change in a particular gene, chromosome, or protein of interest. |
| Negative genetic test | Failure of the laboratory to find a change in the gene, chromosome, or protein under consideration. |
| Uninformative or indeterminate test result | Because 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. |
| Open reading frame | Any part of the genome that could be translated into a protein sequence due to an absence of stop codons |
| Single nucleotide polymorphisms | The most common type of genetic variation among people. Each SNP represents a difference in a single DNA building block, the nucleotide |
| Genome-wide association study | Method 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 |
| Whole exome sequencing | Tests just the exons region (the exome), the protein-coding region of DNA that gives instructions to make proteins |
| whole genome sequencing | tests 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 |
| Gene therapy | The treatment or prevention of diseases by inserting a gene into a patient’s cell instead of using drugs or surgery. |
| Precision medicine | An 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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