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Genetik - Termer
Question | Answer |
---|---|
DNA | deoxyribonukleinsyra, arvsmassan |
Laparoskopisk kirurgi | titthålskirurgi |
Mammografi | röntgenundersökning av bröstkörteln |
Mastektomi | operation där man tar bort bröstet |
Mutation | förändring i en gen, kan leda till sjukdom |
Mutationsanalys | laboratorieanalys för att påvisa en genetisk förändring |
Mutationsbärare | individ som bär en genetisk förändring |
Ooforektomi | operation där man tar bort äggstockarna |
Onkologi | läran om tumörer |
Palpation | undersökning där läkaren med händerna känner efter förändringar |
Profylaktisk | förebyggande |
Salpingo-ooforektomi | operation där äggstockar och äggledare tas bort |
Allel | Allele •En av två eller fler alternativa versioner av en gen |
Aminosyra | Amino acid •Bygger upp proteiner •Varje aminosyra består av: en central kolatom bunden till en aminogrupp, en väteatom, en karboxylgrupp och en R-grupp |
Kodominans | Codominance •Typ av allelinteraktion där heterozygoten samtidigt uttrycker fenotyperna för båda homozygoterna. •Ej blandning utan båda fenotyperna uttrycks samtidigt |
Dominant | Dominant •En allel eller en fenotyp som uttrycks i homozygoter (AA) och i heterozygoter (Aa); endast den dominanta allelen uttrycks i en heterozygot fenotyp. |
Fenotyp | Phenotype •Utseende eller manifestation av en egenskap. |
Gen | Gene •En ärftlig faktor som hjälper till att bestämma ett drag •Definieras ofta på molekylär nivå som en DNA-sekvens som transkriberas till en RNA-molekyl. •En del av DNA som motsvarar ett protein |
Genotyp | Genotype •Den uppsättning alleler en enskild organism besitter. |
Heterozygot | Heterozygous •Att ha två olika alleler på ett lokus. |
Homozygot | Homozygous •Att ha två identiska alleler på ett lokus. |
Lokus | Locus •Position på en kromosom där en specifik gen finns. |
Purin | Purine •Typ av kvävebas i DNA och RNA. Adenin och guanin är puriner. |
Pyrimidin | Pyrimidine •Typ av kvävebas i DNA och RNA. Cytosin, tymin och uracil är pyrimidiner. |
Recessiv | Recessive •En allel eller en fenotyp som endast uttrycks i homozygoter (aa); den recessiva allen uttrycks inte i en heterozygot (Aa) fenotyp. |
Vildtyp? Hur skrivs? | Wild type •Den egenskap eller allel som är vanligast i naturliga (vilda) populationer. •Skrivs ofta hos djur ut som bokstäver och "+", eller ibland bara som "+" •Vanligaste allelen •Ursprungliga allelen som andra muterade populationen uppstått från |
Anafas | Anaphase •Stage of mitosis in which sister chromatids separate and move toward opposite spindle poles. |
Cellcykeln | Cell cycle •Stages through which a cell passes from one cell division to the next. |
Centrosom | Centrosome •Structure from which the spindle apparatus develops; contains the centriole. |
Cytokines | Cytokinesis •Process by which the cytoplasm of a cell divides. |
Interfas | Interphase •Major phase of the cell cycle between cell divisions. In interphase, the cell grows, develops, and functions. |
Kärnspole | Spindle pole • |
Meios | Meiosis •Process by which the chromosomes of a eukaryotic cell divide to give rise to haploid reproductive cells. Consists of two divisions: meiosis I and meiosis II. |
Metafas | Metaphase •Stage of mitosis in which chromosomes align in the center of the cell. |
Mitos | Mitosis •Process by which the nucleus of a eukaryotic cell divides. |
Oogenes | Oogenesis •The production of gametes in a female animal. |
Profas | Prophase •Stage of mitosis in which the chromosomes contract and become visible, the cytoskeleton breaks down, and the mitotic spindle begins to form. |
Prometafas | Prometaphase •Stage of mitosis in which the nuclear membrane breaks down and the spindle microtubules attach to the chromosomes. |
Spermatogenes | Spermatogenesis •Production of gametes in a male animal; takes place in the testes. |
Synapsis | Synapsis •Close pairing of homologous chromosomes. |
Telofas | Telophase •Stage of mitosis in which the chromosomes arrive at the spindle poles, the nuclear membrane re-forms, and the chromosomes relax and lengthen. |
Tetrad | Tetrad •A homologous pair of synapsed chromosomes consisting of four chromatids; also called a Bivalent |
Overkorsning | Crossing over •Exchange of genetic material between homologous but nonsister chromatids. |
Allopolyploidi | Allopolyploidy •Condition in which all chromosomes of a polyploid individual are from two or more species. |
Aneuploidi | Aneuploidy •Change in the number of individual chromosomes; most often an increase or a decrease of one or two chromosomes. |
Autopolyploidi | Autopolyploidy •Condition in which all the sets of chromosomes of a polyploid individual are derived from a single species. |
Autosom | Autosome •Chromosome that is the same in males and females; a nonsex chromosome. |
Barr body | Barr body •Inactivated X chromosome that appears as a condensed, darkly staining body in the nuclei of most cells of female placental mammals. |
Centromer | Centromere •Structure from which the spindle apparatus develops; contains the centriole. |
Deletion | Deletion •Mutation in which one or more nucleotides are deleted from a DNA sequence. |
Diploid | Diploid •Possessing two sets of chromosomes (two genomes). |
Doskompensering | Dosage compensation •A mechanism to equalize the amount of protein produced by X-linked genes and autosomal genes. In placental mammals, dosage compensation is accomplished by the random inactivation of one X chromosome in the cells of females. |
Duplikation | Duplication •Tillkomst av ytterligare en kopia av en DNA |
Gamet | Gamete •Könscell (ägg, spremie, pollen etc) |
Heterogametiskt kön | Heterogametic sex • |
Hexaploid | Hexaploid Organism •Med sex upsättningar av varje kromosomtyp |
Homogametiskt kön | Homogametic sex •The sex (male or female) that produces two types of gametes with respect to sex chromosomes. For example, in the XX-XY sex-determining system, the male produces both X-bearing and Y-bearing gametes. |
Homologa kromosompar | Homologous pair •A pair of chromosomes that are alike in structure and size and that carry genetic information for the same set of hereditary characteristics •One chromosome is inherited from male parent, the other from the female parent. |
Karyotyp | Karyotype •The complete set of chromosomes possessed by an organism; usually presented as a picture of a complete set of its metaphase chromosomes. |
Kromosommutation | Chromosome mutation •Variations in the number and structure of chromosomes; often affects many genes and has large phenotypic effects. |
Kromosomtal | Chromosome number •Antalet kromosomer i varje organisms cell |
Könsbunden gen | Sex linked gene • |
Könskromosom | Sex chromosome •Chromosomes that differ in number or morphology in males and females. |
Metacentrisk kromosom | Metacentric chromosome •Chromosome in which the two chromosome arms are approximately the same length. |
Monosomi | Monosomy •Absence of one of the chromosomes of a homologous pair. |
Nullisomi | Nullisomy •Absence of both members of a homologous pair of chromosomes (2n − 2). |
Paracentrisk inversion | Paracentric inversion •Chromosome inversion that does not include the centromere in the inverted region. |
Pericentrisk inversion | Pericentric inversion •Chromosome inversion that includes the centromere in the inverted region. |
Polyploid | Polyploid •Possession of more than two sets of chromosomes. |
Reciprok translokation | Reciprocal translocation •Reciprocal exchange of segments between two nonhomologous chromosomes. |
Telocentrisk kromosom | Telocentric chromosome •Chromosome in which the centromere is at or very near one end. |
Telomer | Telomere •Stable end of a eukaryotic chromosome. |
Tetrasomi | Tetrasomy •Presence of two extra copies of a chromosome (2n + 2). |
Trisomi | Trisomy •Presence of an extra copy of a chromosome (2n + 1). |
Bassubstitution | Base substitution •Mutation in which a single pair of bases in DNA is altered. |
Dihybrid | Dihybrid •of, relating to, involving, or being an individual or strain that is heterozygous at two genetic loci |
Expressivitet | Expressivity •Degree to which a trait is expressed. |
Forward mutation | •Mutation that alters a wild-type phenotype. |
Frameshift mutation | •Mutation that alters the reading frame of a gene. |
Genfamilj | Gene family •Set of genes that are similar in sequence and that arose through duplication events; often encode different protein products. |
Genmutation | Gene mutation •Mutation that affects a single gene or locus. |
Groddbana | Germ line •Den cellinje som ger upphov till gameter |
Homologa gener | Homologous genes •Evolutionarily related genes descended from a gene in a common ancestor. |
Indel | Indel •Insertion eller deletion |
Insertion | Insertion •Mutation in which one or more nucleotide pairs are added to a DNA sequence. |
Letal mutation | Lethal mutation •Mutation that causes premature death. |
Missense-mutation | Missense mutation •Mutation in which a base substitution results in a different amino acid in the protein encoded. |
Multigenfamilj | Multigene family •Set of genes similar in sequence that arose through repeated duplication events and often encode different protein products. |
Mutation | Mutation •Heritable change in genetic information. |
Nonsense-mutation | Nonsense mutation •Mutation that changes a sense codon (one that specifies an amino acid) into a stop codon (one that terminates translation). |
Ortologa gener | Orthologous genes •Homologous genes found in different species that evolved from the same gene in a common ancestor. |
Paraloga gener | Paralogous genes •Homologous genes in the same species that arose through the duplication of a single ancestral gene. |
Penetrans | Penetrance •Percentage of individual organisms having a particular genotype that express the expected phenotype. |
Pseudogen | Pseudogene •Gen som inaktiverats av mutationer. En ”död” gen |
Rekombination | Recombination •Process that produces new combinations of alleles. |
Revers-mutation | Reverse mutation •Mutation that changes a mutant phenotype back into the wild type. |
Somatisk cell | Somatic cell •Kroppscell. En cell som ej är i groddbanan |
Somatisk mutation | Somatic mutation •Mutation that arises in somatic cells and does not give rise to gametes. |
Synonym mutation | Synonymous mutation •Mutation i en gen som inte ändrar aminosyran |
Transition | Transition •Base substitution in which a purine is replaced by a different purine or a pyrimidine is replaced by a different pyrimidine. |
Transversion | Transversion •Base substitution in which a purine is replaced by a pyrimidine or a pyrimidine is replaced by a purine. |
Tyst mutation | Silent mutation •Change in the nucleotide sequence of DNA that does not alter the amino acid sequence of a protein. |
Zygot | Zygote •Befruktat ägg |
Absolut fitness | Absolute fitness •Fitness mätt i absoluta tal, tex antal avkommor |
Balanserande selektion | Balancing selection •Selektion som verkar för att bevara variation i populationen |
Evolution | Evolution •Förändring av allelfrekvensen i en population över tid |
Fitness | Fitness •Reproductive success of a genotype relative to that of other genotypes in a population. |
Fixering | Fixation •When one allele reaches a frequency of 1 in a population, at which point all individuals in the population are homozygous for one allele. |
Flaskhals | Bottleneck •(Kraftig) minskning i populationsstorlek följt av återhämtning |
Founder effekt | Founder effect •Sampling error that results from the establishment of a population by a small number of individuals; leads to genetic drift. |
Frekvensberoende selektion | Frequency dependent selection •Selektion vars effekt beror på allelens frekvens |
Genetisk drift | Genetic drift •Change in allelic frequencies due to a sampling error. |
Genflöde | Gene flow •Migration |
Heterozygot fördel | Heterozygote advantage Heterozygota individer har högre fitness än endera homo zygoten. Aven kallat överdominans. |
Migration | Migration •Movement of genes from one population to another; also called gene flow. |
Neutral allel | Neutral allele •Allel som inte selekteras |
Negativ selektion | Negative selection •Selektion som minskar frekvensen av en allel |
Positiv selektion | Positive selection •Selektion som ökar frekvensen av en allel |
Relativ fitness | Relative fitness •Fitness jämfört med andra genotyper i populationen |
Riktad selektion | Directional selection •Selection in which one allele or trait is favored over another. |
Selektion | Selection •Fortplantningsfördel eller -nackdel för en allel |
Inavel | Inbreeding •A form of nonrandom mating; preferential mating between related individuals. |
Inavelsdepression | Inbreeding depression •Decreased fitness arising from inbreeding; often due to the increased appearance of lethal or deleterious traits with inbreeding. |
Negativ valparning | Negative assortative mating •Parning mellan företrädelsevis individer med olika fenotyp |
Positiv valparning | Positive assortative mating •A tendency for like individuals to mate. |
Proband | Proband •The person from whom the pedigree is initiated. |
Valparning | Assortative mating •Parning där val av partner inte sker oberoende av individernas fenotyp |
Andra filialen | Second filial generation •Se F2 |
Cytoplasmatisk nedärvning | Cytoplasmic inheritance •Inheritance of characteristics encoded by genes located in the cytoplasm. Because the cytoplasm is usually contributed entirely by one parent, most cytoplasmically inherited characteristics are inherited from only one parent. |
Dihybrid | Dihybrid • |
Epistasi | Epistasis •Type of gene interaction in which a gene at one locus masks or suppresses the effects of a gene at a different locus. |
Expressivitet | Expressivity •Degree to which a trait is expressed. |
F1 | F1 •Offspring of the parents in the P generation in a genetic cross. •Första filialen |
F2 | F2 •Andra filialen •Offspring of the F1 generation in a genetic cross; the third generation of a genetic cross. |
Hemizygot | Hemizygote •Possession of a single allele at a locus. Males of organisms with XX-XY sex determination are hemizygous for X-linked loci because their cells possess a single X chromosome. |
Imprinting | Imprinting •En programmering av vilka gener som uttrycks på en kromosom beroende på vilken förälder kromosomkopian ärvdes från. |
Klyvningstal | Phenotypic ratios •De proportioner i vilka olika fenotyper förekommer i en avkommepopulation från en korsning (ofta mellan två heterozygoter) |
Könsbestämd gen | Sex-influenced gene •Gen vars uttryck beror på könet på individen |
Maternell effekt | Maternal effect •Moderns genotyp bestämmer avkommans fenotyp |
Monohybrid | Monohybrid • |
P1 | P1 •Honan i en korsning |
P2 | P2 •Hanen i en korsning |
Parentalkorsning | Parental cross •Den första korsningen i en serie av man gör |
Pleiotropi | Pleiotropy •Ability of one gene to affect multiple characteristics. |
Reciprok korsning | Reciprocal cross •Pair of crosses in which the phenotypes of the male and female parents are reversed. For example, in one cross, a tall male is crossed with a short female, and in the other cross, a short male is crossed with a tall female. |
Ren linje | • |
Testkorsning | Test cross •Cross between an individual with an unknown genotype and an individual with the homozygous recessive genotype. |
Återkorsning | Backcross •Cross between an F1 individual and either of the parental genotypes. |
Chiasma | Chiasma •Point of attachment between homologous chromosomes at which crossing over takes place. |
Fas | Phase •Vilka alleler som utgör samma haplotyp |
Genetisk karta | Genetic map •Map of the relative distances between genetic loci, markers, or other chromosome regions determined by rates of recombination; measured in recombination frequencies or map units. |
Haplotyp | Haplotype •A specific set of linked genetic variants or alleles on a single chromosome or on part of a chromosome. |
Kopplade loci | Linked loci •Loci som har en rekombinationsfrekvens < 50 %. |
Kopplingsgrupp | Linkage group •A group of linked genes. |
Parental gamet | Parental gamete •Gamete that contains only the original combinations of alleles that were present in the parents. |
Pseudoautosomala regionen | Pseudoautosomal region •Small region of the X and Y chromosomes that contains homologous gene sequences. |
Rekombinant gamet | Recombinant gemate •Gamete with new combinations of alleles. |
***Överkorsning | Crossing over •Exchange of genetic material between homologous but nonsister chromatids. |
Fylogeni | Phylogeny •Evolutionary relationships among a group of organisms. |
Fylogeografi | Phylogeography •Fylogeni som tolkas i ljuset av geografi |
Molekylär klocka | Molecular clock •Use of molecular differences to estimate the time of evolutionary divergence between organisms; assumes a roughly constant rate at which one neutral mutation replaces another. |
Additiv genetisk varians | Additive genetic variance •Component of genetic variance that comprises the additive effects of genes on the phenotype. |
Dominans varians | Dominance genetic variance •Component of genetic variance that can be attributed to dominance (interaction between genes at the same locus). |
Fenotypisk varians | Phenotypic variance •Measure of the degree of phenotypic difference among a group of individuals; composed of genetic, environmental, and genetic–environmental interaction variances. |
Genotypisk varians | Genetic variance •Component of phenotypic variance that is due to genetic differences among individual members of a population. |
Heritabilitet | Heritability •Proportion of total phenotypic variation that is due to genetic differences. |
Miljövarians | Environmental variance •Component of phenotypic variance that is due to environmental differences among individual members of a population. |
Overdominans | Overdominance •Selection in which the heterozygote has higher fitness than either homozygote; also called heterozygote advantage. |
Genom | genome •Hela, kompletta, samlingen av genetiska instruktioner för en organism |
Anafas I | •Stage of mitosis in which sister chromatids separate and move toward opposite spindle poles. |
Anafas II | •Stage of mitosis in which sister chromatids separate and move toward opposite spindle poles. |
Metafas I | metaphase I •Stage of meiosis I in which homologous pairs of chromosomes align in the center of the cell along the metaphase plate. |
Metafas II | metaphase II •Stage of meiosis II in which individual chromosomes align in the center of the cell. |
Meios I | meiosis I •First phase of meiosis. In meiosis I, chromosome number is reduced by half. |
Meios II | meiosis II •Second phase of meiosis. Events in meiosis II are similar to those in mitosis. |