The Basics
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| 552787188 | Allele | Alternative forms of a gene in the same location | |
| 552787189 | Aneuploid | When a cell contains more or fewer chromosomes than the normal diploid number for the species | |
| 552787190 | Autosomes | 22 non-sexual pairs of human chromosomes | |
| 552787191 | Base pairs | are the complementary bases in the 2 opposite strands of DNA | |
| 552787192 | Bases | The 4 nucleoproteins that form the essential nitrogen-containing components of DNA adenine, cytosine, guanine, and thymine | |
| 552787193 | Centromere | The pinched-in area of the chromosome connecting the two sides | |
| 552787194 | Chromatid | Each longitudinal left & right half of the chromosome | |
| 552787195 | Chromosome | A temporary but consistent state of condensed DNA structure formed for the purpose of cell division | |
| 552787196 | Codominant trait | When 2 alleles are different & each is dominant, they are both expressed | |
| 552787197 | Complementary pairs | Nitrogenous bases that normally pair using hydrogen bonds. A-T C-G | |
| 552787198 | DNA (Deoxyribonucleic acid) | The basic genetic chemical structure, containing gene coding regions & non coding regions, that can be compacted into a chromosome form. | |
| 552787199 | Diploid chromosome number | When the nucleus contains both pairs of all chromosomes. (2N) | |
| 552787200 | Dominant trait | is expressed even when the 2 gene alleles for that trait are different | |
| 552787201 | DNA replication | A duplication or reproduction of one cell's DNA during cell division resulting in 2 identical sets of DNA | |
| 552787202 | Euploid | When a cell's nucleus contains the normal diploid number of chromosomes for the species | |
| 552787203 | Gene | Is a specific set of instructions cells use to produce a specific protein | |
| 552787204 | Gene locus | Specific chromosome location of an individual gene (think of this as the "pg" of the Ch in which the recipe is located | |
| 552787205 | Genetics | Study of the general mechanisms of heredity & the variations of inherited traits | |
| 552787206 | Genome | Complete set of genes for the species | |
| 552787207 | Genomics | Study of function of all nucleotide sequences present within the entire genome of a species, including genes in DNA coding regions & in DNA non coding regions | |
| 552787208 | Genotype | Genetic make up of an individual | |
| 552787209 | Haploid chromosome number | A complete set of 1 of each chromosomes representing 23 individual chromosomes (1N) | |
| 552787210 | Heterozygous | When a person has 2 diff gene alleles for a single-gene trait | |
| 552787211 | Histones | Globular protein balls that DNA tightly coils around, the DNA compacts itself without creating tangles or damaging its basic structure (base pairs are not broken or lost during this process) | |
| 552787212 | Homozygous | When a person has 2 identical gene alleles for a single-gene trait | |
| 552787213 | Karyotype | An organized arrangement of all the chromosomes within 1 cell durning the metaphase section of mitosis | |
| 552787214 | Mitosis | A duplication division resulting in 2 new cells that are identical both to each other & to the original cell (parent cell) that began the mitosis, each cell must have a complete genome | |
| 552787215 | Nucleoside | A nitrogenous base of adenine, cytosine, guanine, or thymine attached to a 5 sided sugar (ribose sugar) | |
| 552787216 | Nucleotide | A nitrogenous base attached to a 5 sided sugar connected to a phosphate group | |
| 552787217 | P arm | Segments of chromosome extending above the centromere (p is for "petite") | |
| 552787218 | Phenotype | Physical appearance of the genotype as influenced by the environment | |
| 552787219 | Ploidy | The actual # of chromosomes present in a single-cell nucleus at mitosis | |
| 552787220 | Polyploidy | When additional whole sets of extra chromosomes are present (such as 69 chromosomes 3N triploidy or 92 chromosomes tetraploidy 4N) | |
| 552787221 | Proteome | The DNA that codes for the complete set of all proteins that a person can make at a given time under certain conditions | |
| 552787222 | Proteomics | Study of how protein genes are selectively expressed, are modified after expression & interact w/ each other | |
| 552787223 | q arm | The segments of chromosome below the centromeres (b/c q is the next letter of the alphabet after p) (long arms) | |
| 552787224 | Recessive trait | Is a single-gene trait that is expressed only when both gene alleles are the same | |
| 552787225 | Sex chromosomes | Are the pair that contains the genes for sexual differentiation of a person | |
| 552787226 | Single-gene trait | Genes in which 1 gene controls the expression of a specific structure, protein, or function (monogenic traits) | |
| 552787227 | Anticodon | The tRNA complementary code for an amino acid codon | |
| 552787228 | Codon | A specific RNA base sequence containing the complimentary code to each amino acid's DNA triplet | |
| 552787229 | DNA antisense strand | The single strand of DNA exactly opposite the sense strand that contains the complimentary base sequence to the gene, not the actual gene itself | |
| 552787230 | DNA coding region | An area of DNA that contains many genes that generally have the same base sequences from 1 person to another | |
| 552787231 | DNA noncoding region | A section of DNA containing multiple repeat sequences that is not composed of genes & does not code for specific proteins | |
| 552787232 | DNA sense strand | 1 strand of double-stranded DNA that contains the actual gene coding sequence for the protein to be synthesized. Same as sense DNA | |
| 552787233 | DNA triplet | The exact 3 nucleotide base sequences that code for a specific amino acid | |
| 552787234 | Exons | The segmental parts of DNA within a gene-coding region that actually belong in the gene-coding sequence for a specific protein | |
| 552787235 | Frameshift mutations | Disruptions of the DNA reading frame as a result of having a whole base or group of bases added or deleted | |
| 552787236 | Gene expression | The activation of a gene leading to the transcription, translation & synthesis of a specific protein | |
| 552787237 | Germline mutation | A mutation that occurs in germ cells (sperm or ova) & can be passed on to one's children at conception | |
| 552787238 | Introns | The sectional parts of DNA within a gene-coding region that do not belong to the gene-coding sequence of the protein being synthesized | |
| 552787239 | MicroRNA | A small noncoding piece of RNA that regulates gene expression at the mRNA level by inhibiting the translation & promoting the degradation of specific (targeted) cytoplasmic mRNA molecules | |
| 552787240 | Mutagen | Any substance or event that can inflict temporary or permanent changes in the normal DNA sequence | |
| 552787241 | Mutation | An alteration in the base sequence of DNA or RNA | |
| 552787242 | Point mutation | Substitutions of 1 base for another & can occur in DNA or RNA | |
| 552787243 | Post-transcriptional modification | A processes that eliminates the introns before the mRNA can be translated & used to direct the precise synthesis of the protein coded by the gene | |
| 552787244 | Post-translational modification | Further process of a newly translated primary protein structure into its secondary & tertiary structures (& sometimes even a quaternary structure) needed to make it fully functional | |
| 552787245 | Protein synthesis | The selective activation of a gene, resulting in its transcription & translation into the production of the appropriate protein | |
| 552787246 | RNA (ribonucleic acid) | A single strand of nitrogenous bases (adenine, uracil, cytosine, guanine) constructed during transcription from DNA containing the gene for a specific protein | |
| 552787247 | RIbosome | A cytoplasmic adapter molecule containing a complex of proteins & RNA that essentially decodes the mRNA to place the proper individual amino acid into the peptide chain during protein synthesis | |
| 552787248 | Single nucleotide polymorphism (SNP) | A type of point mutation commonly inherited in a gene that alters gene activity in a certain percentage of the general pop | |
| 552787249 | Somatic mutation | A mutation that occurs after conception in general body cells (somatic cells) & cannot be passed on to one's children | |
| 552787250 | Transcription | The process of making a strand of RNA that is complementary to the DNA sequence that contains the gene for the protein needed | |
| 552787251 | Transfer RNA (tRNA) | Specialized carrier & transfer molecules that can move an amino acid into position to be incorporated into a growing peptide chain during protein synthesis | |
| 552787252 | Translation | The process of using a mature mRNA molecule as the directions for proper placement of amino acids in the correct sequence to synthesize a protein | |
| 552787253 | Uracil | A pyrimidine base nearly identical to thymine that is used in place of thymine in RNA synthesis | |
| 552787254 | Apoptosis | Programmed cell death | |
| 552787255 | Contact inhibition of mitosis | The inhibition of normal cells to undergo mitosis when molecules are completely contacted with the membranes of other cells | |
| 552787256 | Differentiation | The process by which a cell leaves the pluripotent stage & acquires the maturational features & functions of a specific cell type | |
| 552787257 | Gametogenesis | The conversion of diploid germ cells into haploid gametes that are capable of uniting at conception to start a new person | |
| 552787258 | Meiosis | The process of chromosomal reduction cell divisions during gametogenesis to ensure that gametes are haploid | |
| 552787259 | Meiotic cell division | A special type of cell division in which the chromosome % per cell is reduced to half | |
| 552787260 | Oncogenes | A large group of genes that produce proteins that promote entering & completing the cell cycle (AKA promitotic genes) | |
| 552787261 | Oogenesis | The process of forming oocytes from precursor germ cells | |
| 552787262 | Pluripotent cell | An undifferentiated early embryonic cell that, under the right conditions, can become any human body cell | |
| 552787263 | Signal transduction | A set of communication system chain that allows info about events, conditions, & substances external to the cell to reach the nucleus & influence whether the cell then divides, undergoes apoptosis, or performs its differentiated functions | |
| 552787264 | Spermatogenesis | The process of converting diploid spermatogenia into mature haploid sperm | |
| 552787265 | Suppressor genes | A set of master control genes that produce proteins that restrict a cell from entering the cell from 1 phase to the next within the cell cycle. Some products of these genes also trigger apoptosis | |
| 552787266 | Transcription factors | A variety of promitotic substances that enter a cell nucleus & signal gene transcription or mitosis is needed | |
| 552787267 | Incidence | The rate at which new cases occur | |
| 552787268 | Prevalence | The proportion of a pop affected by a disease at any one time | |
| 552787269 | Congenital | A condition that is present at birth | |
| 552787270 | Penetrance | Used to describe the proportion of individuals who are heterozygous for an AD, who express the disease (means can have disease but not express it) | |
| 552787271 | Anticipation | Some autosomal dominant disease increase severity or have an earlier age of onset as the disease is passed from one generation to the next | |
| 552787272 | Heterogeneity | Refers to variety of genetic defects which cause the same disease, but differ in type of mutation | |
| 552787273 | X inactivation | In somatic cells of females one X chromosome is randomly inactivated, exists as a barr body and its alleles are not expressed | |
| 552787274 | Age of Expression | The same disorder may show effects at different point in the lifespan | |
| 552787275 | Parental Age Effect | Both maternal and paternal age may increase risk of inherited disorders, but the mechanisms are different | |
| 552787276 | Imprinting | An epigenetic event in which a gene (or gene allele) is inactivated by means other than mutation so that DNA sequence of the gene remains normal but its expression is inhibited | |
| 552787277 | Consanguinity | same bloodline/close to family | |
| 552787278 | Expressivity | The degree of trait expression a person has when a dominant gene is present | |
| 552787279 | Linkage | Tendency for two or more non-allelic genes to be inherited together b/c they're located more or less closely on same chromosomes (Measured by % recombination btwn loci) |
