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Genetik - Termer

QuestionAnswer
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.
Created by: EllaBrandgård
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