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78 Cards in this Set

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Metacentric

Centromere at the middle and has arms of equal length

Submetacentric

Centromere displaced at an end creating long and short arms

Acrocentric

Centromere near an end with long arm and knob/satellite

Telocentric

Centromere at or very near to end of chromosome

Karyotype

Complete set of chromosomes possessed by an organism

Karyotype

Usually presented as a picture of metaphase chromosomes lined up descendingly of size

Ploidy

Number of sets of chromosomes in cells

Monoploid

One set of chromosome

Diploid

Two sets of chromosome

Polyploid

More than three sets of chromosome

Chromosome mutation categories

1. Chromosome rearrangements


2. Aneuploids


3. Polyploids

Chromosome rearrangements

Alteration in chromosome structure

Aneuploids

Alteration in chromosome number

Polyploids

One or more complete sets of chromosome being added

Duplication

Doubled part of chromosome

Tandem duplication

Duplicated region is immediately adjacent to original segment

Displaced duplication

Duplicated region is located distance away from original segment either on same or different arm or chromosome

Reverse duplication

Inverted duplication or reverse repeat

True

An individual homozygous for duplication carries the duplicated region on both homologous chromosomes.

False

An individual heterozygous for duplication has two unmutated chromosomes and one chromosome with the duplicate.

One unmutated

Synapsis

Pairing of homologues to form tetrad at prophase I

True

In heterozygotes, problem arise in chromosome pairing at prophase I of meiosis because two chromosomes are not homologous to their length.

False

Mutation may not have major effects on phenotype due to imbalances of gene products.

Mutation may have effects

Deletion

Loss of chromosome segment

True

Deletion can be easily detected because of shortened chromosome.

False

Genotypic consequences depend on which genes are located in the deleted region.

Phenotypic. E.g. If including centromere, chromosomes won't segregate

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

Pseudodominance

Deleted dominant allele or expression of recessive mutation

Haploinsufficient gene

Single copy of gene is insufficient to make wildtype phenotype

Inversions

Chromosome segment is inverted by 180° and must break for it to occur

Paracentric

Does not include centromere when inverting

Pericentric

Includes centromere when inverting

True

Inversion often have pronounced phenotypic effect due to inverted gene order.

Position effect

Outcome of inversion

True

An individual homozygous for inversion won't result to special problem since the homologous chromosomes can pair and segregate randomly.

Inversion loop

A heterozygous individual for particular inversion will have two homologous chromosomes align and pair if they will form this

True

Reduced recombination along inverted region.

Dicentric chromatid

Chromatid that has two centromeres

Acentric chromatid

Chromatid that lacks centromere

Translocation

Movement of genetic material between nonhomologous chromosomes or within same chromosome

Nonreciprocal

Genetic material moved from one chromosome to another without any reciprocal exchange

Minsan translocation, minsan feelings niya sayu.

Reciprocal

Two-way exchange of segments between chromosomes

Different effects on phenotype [translocation]

1. Can create new linkage relations that affect gene expression or position effect


2. Disrupts the function of gene

Robertsonian translocation

Participating chromosomes break at their centromeres and long arms fuse to form single large chromosome with one centromere

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)

Nullisomy

Type of aneuploidy losing both members of homologous chromosomes

Monosomy

Type of aneuploidy losing one chromosome

Trisomy

Type of aneuploidy gaining one chromosone

Tetrasomy

Type of aneuploidy gaining two homologous chromosomes

True

More than one aneuploidy may occur in the same individual

Uniparental disomy

Individual with two copies of chromosome from one of the parent only

Uniparental disomy

May arise when trisomic embryo loses one of the triplicate chromosomes early in development

Mosaicism

Nondisjunction in mitotic division generating patches of cells with abnormal chromosome and other patches of normal karyotype

Mosaicism

Leads to region of tissue with different chromosome constitutions

Somatic or meiotic

Origin of trisomy mosaicism

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

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

Freemartinism

Form of intersexuality arising from vasculat anastomosis of adjacent chorioallantoic sacs of male and female fetuses in multiple pregnancies

Freemartinism

Most commonly recognized non-inflammatory condition resulting to infertility involving tubular reproductive tract in bovine

Freemartinism

Has been demonstrated as a cause of infertility in heifers with apparently normal external genitalia but with sex chromosome chimerism

Freemartin

Infertile mammal with masculinized behavior and non-functioning ovaries

Genetically the animal is chimeric.

Karyotyping sample cells shows XX or XY chromosomes means

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

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

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.

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.

Autopolyploidy

Type of polyploidy wherein accidents of mm produce extra sets of chromosomes deriving from single spp

Autotriploid or 3n

May arise when nondisjunction in meiosis produces a diploid gamete that then fuses with normal haploid gamete forming triploid zygoye

False

In mitosis of autotriploid or 3n, homolohous chromosomes can pair or not pair in three ways.

Meiosis

Allopolyploidy

Arises from hybridization between two spp

Allopolyploidy

Resulting polyploid carries chromosome sets derived from two or more spp

Mule

Female horse plus male donkey

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

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

Genetic rescue

Introduction of new genetic variation into an inbred population

Gene pool

Stock of different genes in interbreeding population

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

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