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78 Cards in this Set
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Metacentric |
Centromere at the middle and has arms of equal length |
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Submetacentric |
Centromere displaced at an end creating long and short arms |
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Acrocentric |
Centromere near an end with long arm and knob/satellite |
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Telocentric |
Centromere at or very near to end of chromosome |
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Karyotype |
Complete set of chromosomes possessed by an organism |
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Karyotype |
Usually presented as a picture of metaphase chromosomes lined up descendingly of size |
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Ploidy |
Number of sets of chromosomes in cells |
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Monoploid |
One set of chromosome |
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Diploid |
Two sets of chromosome |
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Polyploid |
More than three sets of chromosome |
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Chromosome mutation categories |
1. Chromosome rearrangements 2. Aneuploids 3. Polyploids |
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Chromosome rearrangements |
Alteration in chromosome structure |
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Aneuploids |
Alteration in chromosome number |
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Polyploids |
One or more complete sets of chromosome being added |
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Duplication |
Doubled part of chromosome |
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Tandem duplication |
Duplicated region is immediately adjacent to original segment |
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Displaced duplication |
Duplicated region is located distance away from original segment either on same or different arm or chromosome |
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Reverse duplication |
Inverted duplication or reverse repeat |
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True |
An individual homozygous for duplication carries the duplicated region on both homologous chromosomes. |
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False |
An individual heterozygous for duplication has two unmutated chromosomes and one chromosome with the duplicate. |
One unmutated |
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Synapsis |
Pairing of homologues to form tetrad at prophase I |
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True |
In heterozygotes, problem arise in chromosome pairing at prophase I of meiosis because two chromosomes are not homologous to their length. |
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False |
Mutation may not have major effects on phenotype due to imbalances of gene products. |
Mutation may have effects |
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Deletion |
Loss of chromosome segment |
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True |
Deletion can be easily detected because of shortened chromosome. |
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False |
Genotypic consequences depend on which genes are located in the deleted region. |
Phenotypic. E.g. If including centromere, chromosomes won't segregate |
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Reasons why heterozygous individuals with deletion have multiple defects |
1. Heterozygous condition may produce imbalances in the amounts of gene products 2. Pseudodominance 3. Haploinsufficient gene |
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Pseudodominance |
Deleted dominant allele or expression of recessive mutation |
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Haploinsufficient gene |
Single copy of gene is insufficient to make wildtype phenotype |
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Inversions |
Chromosome segment is inverted by 180° and must break for it to occur |
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Paracentric |
Does not include centromere when inverting |
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Pericentric |
Includes centromere when inverting |
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True |
Inversion often have pronounced phenotypic effect due to inverted gene order. |
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Position effect |
Outcome of inversion |
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True |
An individual homozygous for inversion won't result to special problem since the homologous chromosomes can pair and segregate randomly. |
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Inversion loop |
A heterozygous individual for particular inversion will have two homologous chromosomes align and pair if they will form this |
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True |
Reduced recombination along inverted region. |
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Dicentric chromatid |
Chromatid that has two centromeres |
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Acentric chromatid |
Chromatid that lacks centromere |
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Translocation |
Movement of genetic material between nonhomologous chromosomes or within same chromosome |
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Nonreciprocal |
Genetic material moved from one chromosome to another without any reciprocal exchange |
Minsan translocation, minsan feelings niya sayu. |
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Reciprocal |
Two-way exchange of segments between chromosomes |
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Different effects on phenotype [translocation] |
1. Can create new linkage relations that affect gene expression or position effect 2. Disrupts the function of gene |
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Robertsonian translocation |
Participating chromosomes break at their centromeres and long arms fuse to form single large chromosome with one centromere |
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Causes of aneuploidy |
1. Chromosome may be lost during mm 2. Small chromosome generated by Robertsonian translocation be lost in mm 3. Due to nondisjunction or the failure of homologues/sister chromatids to separate in mm |
Meiosis or mitosis (mm) |
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Nullisomy |
Type of aneuploidy losing both members of homologous chromosomes |
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Monosomy |
Type of aneuploidy losing one chromosome |
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Trisomy |
Type of aneuploidy gaining one chromosone |
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Tetrasomy |
Type of aneuploidy gaining two homologous chromosomes |
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True |
More than one aneuploidy may occur in the same individual |
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Uniparental disomy |
Individual with two copies of chromosome from one of the parent only |
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Uniparental disomy |
May arise when trisomic embryo loses one of the triplicate chromosomes early in development |
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Mosaicism |
Nondisjunction in mitotic division generating patches of cells with abnormal chromosome and other patches of normal karyotype |
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Mosaicism |
Leads to region of tissue with different chromosome constitutions |
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Somatic or meiotic |
Origin of trisomy mosaicism |
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Mosaics |
1. Cells in organism have same genetic origins 2. Almost all loci are identical in different cell populations as all cells are derived from same zygotic genotype 3. Somatic mutations make us all mosaic |
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Chimera |
1. One organism composed of genetically distinct cells 2. Chimerism have divergent genotypes all across the genome 3. They can be artificially produced from organ transplants of different animals |
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Freemartinism |
Form of intersexuality arising from vasculat anastomosis of adjacent chorioallantoic sacs of male and female fetuses in multiple pregnancies |
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Freemartinism |
Most commonly recognized non-inflammatory condition resulting to infertility involving tubular reproductive tract in bovine |
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Freemartinism |
Has been demonstrated as a cause of infertility in heifers with apparently normal external genitalia but with sex chromosome chimerism |
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Freemartin |
Infertile mammal with masculinized behavior and non-functioning ovaries |
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Genetically the animal is chimeric. |
Karyotyping sample cells shows XX or XY chromosomes means |
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Genetically the animal is chimeric and has microchimerism |
Animal originates as XX but gets XY component in utero by exchange of some cellular material from a male twin via vascular connections between placentas which means |
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Genetically the animal is chimeric. |
Animal appears as XX but various reproductive development are altered due to acquiring anti-Müllerian hormone from the male twin |
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True |
Freemartinism causes infertility in female cattle born twin to a male. When heifer twin shares uterus with a bull fetus, they also share placental membranes connecting them. |
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True |
Estimates of percentage of natural beef cattle births that produce twins vary. One estimate puts percentage of 0.5% or 1 in every 200 births. Approximately half of the sets of twins should contain both a bull or heifer calf. |
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Autopolyploidy |
Type of polyploidy wherein accidents of mm produce extra sets of chromosomes deriving from single spp |
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Autotriploid or 3n |
May arise when nondisjunction in meiosis produces a diploid gamete that then fuses with normal haploid gamete forming triploid zygoye |
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False |
In mitosis of autotriploid or 3n, homolohous chromosomes can pair or not pair in three ways. |
Meiosis |
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Allopolyploidy |
Arises from hybridization between two spp |
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Allopolyploidy |
Resulting polyploid carries chromosome sets derived from two or more spp |
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Mule |
Female horse plus male donkey |
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Autopolyploidy |
-Chromosome complement consists of more than two copies of homologous chromosomes -Arises by fusion of gametes of same spp -Its cell contains homologous chromo sets -Mainly caused by nondisjunction of chromosomes -Don't undergo meiosis since it is from one parent -Seen in crops like wheat, oats, sugar-cane, potato, peanut, banana, and coffee |
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Allopolyploidy |
-Chromosome complement consist of more than two copies of chromosomes from different spp -Arises by fusing gametes of different species -All chromosome sets of its cell are not homologous -Due to mating of different spp -Can undergo meiosis -Seen in crops like wheat and animals like mule |
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Genetic rescue |
Introduction of new genetic variation into an inbred population |
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Gene pool |
Stock of different genes in interbreeding population |
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Plato |
No two persons are born exactly alike but each differs from the other in natural endowments, one being suited for one occupation and the other for another |
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Johann Wolfgang von Goeche |
No two people see the world exactly alike, and different temperaments will often apply the same principle recognized by both differently. Even when one and same person won't always maintain the same views and judgements; earlier convictions must give way to later ones |
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