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Bio 12: The Chromosomal Basis of Inheritance Flashcards

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2350174420The Chromosome Theory of InheritanceAll genes have specific loci along chromosomes, and these chromosomes are what undergo segregation and independent assortment; a specific gene is carried on a specific chromosome0
2350174421Wild TypeThe phenotype for a character most commonly observed in natural populations (e.g. for fruit flies, red eyes is the wild type, represented by w+)1
2365147240Mutant TypeThe phenotypes that are alternative to the wild type (e.g. for fruit flies, white eyes is a mutant type, represented by w)2
2365157923Thomas Hunt MorganAn experimental embryologist at Columbia University who bred fruit flies over many generations to research the placement of genes on chromosomes3
2365161518Morgan's Fruit Fly Experiment-Mated male mutants with female wild types -F1 generation all had red eyes (wild type) -F2 generation was 3:1 red:white, but only males had the white eyes -Showed that the mutant white eye allele is only located on the x chromosome, so only males had it because they would have one recessive white eye allele on their x chromosome and none on their y chromosome -Females couldn't have white eyes because they would have to homozygous recessive, but there were only red-eyed fathers in the F1 generation -Supports the chromosome theory of inheritance4
2367736583Sex-Linked GeneA gene that is located on either sex chromosome; those on the Y chromosome are called Y-linked genes, those located on the X chromosome are called X-linked genes5
2367753227How is sex determined in an organism?-All eggs in a female have one X chromosome -Half of the sperm in a male have one X chromosome, while the other half have one Y -50/50 chance, because half the time a Y sperm combines with an egg to get an XY male and half the time an X sperm combines with an egg to get an XX female6
2367766605SRY Gene"Sex-determining region of Y"; a gene on the Y chromosome that is required for the development of testes, so without this gene, the gonads of an embryo develop into ovaries7
2367774762Y-Linked GenesThe Y chromosome is passed on basically intact from father to son, but there are very few Y-linked genes so not many disorders are transferred from the Y chromosome8
2367785820X-Linked Genes-Human X chromosome has over 1,000 genes -Fathers can only pass x-linked alleles to their daughters, but mothers can pass them to both sons and daughters, so most disorders are inherited from the mother -X-linked recessive traits can only be expressed in females if both of the mother's X chromosomes have it (homozygous recessive)9
2367809901HemizygousA term used to describe male sex chromosomes; because very few X-linked genes have a Y-linked counterpart, males only need one recessive X-linked allele from the mother to express that trait in their phenotype; this is why X-linked recessive disorders are much more common in males than females10
2367834064Color-BlindednessAn X-linked recessive disorder that, like all X-linked recessive disorders, is much more common in males than females11
2367836775Duchenne Muscular DystrophyAn X-linked recessive disorder that causes a progressive weakening of the muscle and loss of coordination; affected individuals rarely live past their early 20s12
2367841139HemophiliaAn X-linked recessive disorder that causes the absence of one or more of the proteins needed for blood clotting; when an afflicted person is injured, the bleeding is prolonged because the clot forms too slowly, which can lead to pain13
2367851319X-Chromosome InactivationBecause females have twice as many X-linked genes as males, one of them must be inactivated so that the genes will only code for half as many proteins to be made; females with heterozygous X-linked genes will have half of their cells expressing the gene from the father and half expressing the gene from the mother14
2367857095Barr bodyThe inactive, condensed X chromosome in a female that lies along the inside of the nuclear envelope; the genes in the Barr body X chromosome are not expressed; one of the two X chromosomes in a female is randomly inactivated during early embryonic development15
2367880477How does an X-chromosome become a Barr body?-There is a special region on every X chromosome that contains several genes involved in the inactivation process -During early embryonic development, the two regions from each X chromosome associate briefly -DNA and histone proteins are modified by the attachment of a methyl group (-CH3) to one of the nitrogenous bases of the DNA nucleotides -The XIST gene then becomes active only on the chromosome that will become the Barr body16
2367893470XIST Gene"X-inactive specific transcript"; the gene that is active on the X chromosome that will eventually become the Barr body because multiple copies of the protein that it codes for attach to the future Barr body and almost cover it; interaction of these proteins with the chromosome initiate the X inactivation17
2367902078Linked GenesTwo or more genes on the same chromosome that tend to be inherited together; the presence of linked chromosomes decreases variation because these traits tend to be inherited together in the parental combination, so the offspring usually resemble the parental phenotypes18
2367919346Parental TypesPhenotypes that resemble the parents (e.g. the parental types of fruit flies are gray body/normal wings and black body/vestigial wings)19
2367923899Recombinant TypesPhenotypes that do not resemble the parents (e.g. the recombinant types of fruit flies are gray body/vestigial wings and black body/normal wings)20
2367928974Genetic RecombinationThe production of recombinant type offspring; when 50% of all offspring are recombinant types, then there is a 50% frequency of recombination; genes that are at loci farther away from each other are more likely to cross over so therefore have higher recombination frequencies21
2367962078Crossing OverThe process that physically breaks apart linked genes and recombines them to different chromosomes; replicated homogenous chromosomes are paired during prophase of meiosis I, and the corresponding segments of one maternal and one paternal chromatid and exchanged, so the end portions of two nonsister chromatids trade places and the once-linkde genes are split up22
2367981876Chapter Summary: what processes increase variation in species?1. Sexual reproduction (two parents) 2. Random mating--more traits for gene pool 3. Meiosis--random assortment in metaphase I and crossing over recombines genes into different types 4. Mutation23
2367985840Chapter Summary: what processes decrease variation in species?1. Asexual reproduction (one parent) 2. Nonrandom mating--same traits available for gene pool 3. Linked genes--same traits in offspring24
2367989337Genetic MapAn ordered list of the genetic loci along a particular chromosome; the farther apart two genes are on a chromosome, the more likely that crossover will occur and there will be a higher recombination frequency25
2367999888Linkage MapA genetic map of chromosomes based on recombination frequencies26
2368007112Map UnitsUsed to express distance between genes in a linkage map; one map unit is equal to a 1% recombination frequency27
2368012029Genetically Unlinked GenesThough they are physically linked on the same chromosome, they are not genetically linked because they have the maximum recombination frequency (50%), which is the same as that of two genes on different chromosomes28
2368018398Cytogenetic MapMaps of chromosomes that locate genes with respect to chromosomal features, such as stained bands, that can be seen in the microscope; these are different from linkage maps because they express the physical distance between genes, rather than the difference in recombination frequencies29
2368026099NondisjunctionAn error in meiosis that causes one daughter gamete to have two of the same chromosome and one to not have that chromosome at all (aneuploidy); occurs either in meiosis I when the pair of homologous chromosomes do not separate properly or in meiosis II when the sister chromatids fail to separate; more common in the eggs of elder women30
2373624876AneuploidyWhen a zygote has an abnormal number of a particular chromosome because it was created by the fertilization of a normal gamete with one that has gone through nondisjunction; large-scale chromosomal number alterations can lead to developmental disorders or miscarriage31
2373632834MonosomyWhen a zygote is aneuploid by having 2n-1 chromosomes, because it involved the fertilization of a normal gamete with one that was missing a chromosome; this usually results in miscarriage32
2373638509TrisomyWhen a zygote is aneuploid by having 2n+1 chromosomes, as a result of either nondisjunction (normal gamete + gamete with extra chromosome) or translocation; trisomy is the cause of Down syndrome along with other disorders33
2373647792PolyploidyWhen an organism has more than two complete chromosome sets in all of its somatic cells; this is true for many plants and has been key in the evolution of plants including bananas (3n), wheat (6n), and strawberries (8n)34
2373660611TriploidyWhen an organism has three complete chromosome sets in all of its somatic cells (3n); could result by the fertilization of an abnormal diploid gamete (2n because all of its chromosomes underwent nondisjunction)35
2373661648TetraploidyWhen an organism has four complete chromosome sets in all of its somatic cells (4n)36
2373683355What are the four possible chromosomal mutations?1. Deletion 2. Duplication 3. Inversion 4. Translocation All of the above are caused by either errors in meiosis (usually during synapsis) or damage from agents such as radiation that leads to chromosomal breakage37
2373684970DeletionA lethal chromosomal mutation that occurs when a fragment of a chromosome is lost, so this chromosome is missing several genes38
2373692656DuplicationA harmful chromosomal mutation that occurs when an extra chromosome fragment broken off from deletion attaches itself to a sister/homologous nonsister chromatid, so there are now two identical copies of certain genes in that chromosome39
2373699527InversionA phenotype-altering chromosomal mutation that occurs when an extra chromosome fragment broken off from deletion reattaches itself to that chromosome but in reverse orientation40
2373703812TranslocationA harmful (or phenotype-altering) chromosomal mutation that occurs when an extra chromosome fragment broken off from deletion attaches itself to a nonsister, nonhomologous chromatid41
2373719949How do deletions and duplications occur during synapsis/meiosis?When the different chromatids are crossed, they often exchange unequal lengths of gene fragments, so one has deletion and one has duplication for those certain genes42
2373728088SyndromeA specific set of traits characteristic of the type of aneuploidy that a cell has43
2373730514Down SyndromeAKA trisomy 21; a type of aneuploid disorder in which there is an extra chromosome 21, so each somatic cell has a total of 47, rather than 46, chromosomes44
2373747037Klinefelter SyndromeA disorder in males in which there is an extra X chromosome (XXY); those affected are usually sterile and can show signs of female body characteristics45
2373757512Turner SyndromeAKA monosomy X; a disorder in females in which there is only only X chromosome (X0); those affected are still phenotypically female yet they are sterile because their sex organs do not mature46
2373768868Cri Du Chat Syndrome"Cry of the cat"; a disorder resulting from a specific deletion in chromosome 5; those affected are intellectually disabled, have a small head, and usually die in infancy or early childhood47
2373774380Chronic Myelogenous Leukemia (CML)A certain strain of bone marrow cancer that results from a translocation in white blood cells, which activates a genes that leads to uncontrolled cell cycle progression48
2373778802Philadelphia ChromosomeA shortened version of chromosome 22 because a large fragment of it was translocated with a small fragment of chromosome 9, causing CML49

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