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83 Cards in this Set

  • Front
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centimorgan

centimorgan (cM) or map unit (m.u.) is the unit for genetic linkage. It is defined as the distance between chromosome positions for which the average number of chromosomal cross overs in a single generation is 0.01 or 1%

genotype

genetic constitution of an organism, consists of two alleles per trait


phenotype

the observable set of traits or set of traits caused by the genotype and environment

Self-Fertilization, "selfing"

Plants can be manually self fertilized, which ensures no introduction of new alleles into the gene pool

Cross-fertilization, "cross"

simply mating between male and female gametes from different sources

true-breeding/pure-breeding

Homozygous for all alleles, an organism that when self crossed will produce offspring identical to the parent

monohybrid cross

Mendel's cross of a two true-breeding plants that differ on a single trait

Reciprocal crosses

It is a modified cross where the parents with switched traits are crossed. If same offspring as original cross, then trait is not sex-dependent

Mendel's First Law

Principle of Segregation - allele pairs segregate during gamete formation. Half the gametes carry one allele, half the gametes carry theo ther

locus/gene locus

Specific location of a gene on a chromosome

Test cross

A cross of an individual expressing a dominant phenotype with a individual that is homozygous recessive. The offspring will tell if the individual is heterozygous or homozygous dominant

wild-type allele

functional allele that predominates, highest frequency in the population in the wild. Generally dominant

Loss-of-function mutations

mutations of a gene, usually recessively, that causes reduced or nonfunction of the gene, reducing biological functionality

null mutation

a mutation that results in no protein or a protein with no function in comparison to normal function

Mendel's Second Law

Principle of independent assortment: pairs of alleles on different chromosomes segregate independently in the formation of gametes

Dihybrid Cross

Dihybrids are heterozygous for two pairs of alleles at different foci. The cross is a cross between two of these. 9:3:3:1 normally

Trihybrid Cross

Crossing individuals that are heterozygous for three pairs of alleles at different foci.


Normal: 27:9:9:9:3:3:3:1

null hypothesis

predicted results and observed data are said to be the same. This is tested via chi-square

chi-square

Comparing expected and actual data, it's the sum of all (expected-actual)^2/expected. This is translated to p test by looking at degrees of freedom (variables-1). Benchmark for validity is 5%, 0.05

Pedigree Rules

Offspring are organized left to right in order of increasing date of birth. Fraternal twins are two sides of a triangle, identical are a triangle

Homologous chromosomes

Chromosomes that contain the same genes. They pair during meiosis, each member is called a homolog

Sex Chromosomes

Most animals and plants are differentiated in sex by the combination of sex chromosomes. Sexes are generally one morphologically similar pair and one that isn't

Centromere

Constriction along chromosome length that also connects sister chromatids after division. Its presence is crucial, they will not line up in metaphase without it.

Metacentric

Chromosome centromere is located in the center

Submetacentric

Chromosome centromere is located past the midpoint of the chromosome

Acrocentric

Chromosome centromere is very close to the end of the chromosome, leaving one long arm and almost a bulb

Telocentric

centromere is at the very end of a chromosome, only one arm exists

karyotype

complete set of all metaphase chromosomes, often visualized since this is the stage that they are the most condensed

Somatic cell cycle phases

Interphase (longest), and Mitosis (quite short). Chromosome replication occurs during interphase

Sister chromatids

After interphase, all chromosomes are replicated. Copies of the exact same chromosome are sister chromatids, held together by the two attached, replicated centromeres. After separating they're known as daughter chromosomes

Prophase

Chromatids condense and form the double sister chromatid state, nucleolus shrinks or disappears. Mitotic spindle develops outside the nucleus, with centrioles in animals. These centrioles pairs are duplicated and each becomes the focus of an array of microtubules called the ASTER.

Prometaphase

Developing spindle enters nuclear area. Kinetochore binds to centromeres

Kinetochore

Specialized protein complex that binds to centromeres during mitosis/meiosis. Kinetochore microtubules from the spindle bind to the kinetochores and manipulate chromosome positioning

Metaphase

Kinetochore microtubules align all the chromosomes and centromeres along the metaphase plate, 90 degrees to the spindle axis

Anaphase

The joined centromeres of the two sister chromatids separate and daughter chromosomes move to opposite poles of the cells

Telophase

Daughter chromosomes group at opposite sides of the cell and begin to decondense and uncoil. Nuclear envelope reforms, spindles disappear

Cytokinesis

Division of cytoplasm, splits parent cell into two daughter cells. In plants a new cell plate is formed between the nuclei.

Prophase I stages

leptotene, zygotene, pachytene, diplotene, diakinesis in that order

Leptotene

"thin threads" - Extended chromosomes begins condensation and are visible as threads

Zygotene

"paired threads" - Condensation continues, homologous chromosomes find each other and align alongside each other. They synapse and zip-up, aligning the homologs perfectly, base pair per base pair

Synapsis

Formation of the synaptonemal complex along homologous chromosomes in zygotene which zips them up

Pachytene

"thick threads" - Once synapsis is completed, crossing over occurs. Condensed AF

Bivalent/tetrad

The synapsed set of two homologous chromosomes in pachytene

Recombinant chromosome

Any chromosome resulting from crossing over that differs from the starting chromosome

diplotene

"two threads" - The centromeres are pulled apart and the bivalent begins to break down. The result of crossing over appears here as chiasmas exist at the locations

Chiasma

Locations where crossing over occurs, seen in diplotene. Locations where the homologous chromosomes are very closely associated. This prevents the homologous chromosome pairs from separating prior to anaphase

Sex chromosomes

can be heterogametic or homogametic though those aren't associated with being male or female. Those two terms refer to how what kinds of gametes an organism can make

hemizygous

a gene is present only once in the individual, with no corresponding homologous gene. Usually sex-linked

Crisscross inheritance

Male to female offspring or otherwise. Generally evidence of sex linked inheritance

Nondisjunction

Chromosomes do not segregate appropriately during meiosis, leading to an incorrect number of chromosomes

Turner Syndrome

Nondisjunction leading to XO females. More or less normal other than shorter than average and less feminine

Klinefelter Syndrome

Nondisjunction leading to XXY males. Underdeveloped testes, tall, subnormal intelligence

XYY Syndrome

No real issues. They're male obviously.

Epistasis

One gene being dependent on other genes. For instance, a null allele albinism trumping any hair color gene. Or a specific dominant phenotype above another

Pleiotropy

production of superficially unrelated phenotypes by a single allele

Lethal allele

Almost always recessive alleles that are lethal when homozygous. This results in different ratio of offspring than normal

Penetrance

% of carriers of an allele that are affected by it

Expressivity

Degree to which a recessive phentoype is shown, the magnitude of loss of function

5-bromo-uracil

A base analog to uracil or thymine or something I dunno. It gets incorporated into DN during mitosis which allows us to track its stain.

Harlequin chromosomes

Sister chromatids that stain differently, usually due to incorporation of a base analog during mitosis

ZW Sex determination

The convention where males have two identical ZZ sex chromosomes whereas females have ZW. The functionality is opposite that of XY as far as inheritance goes

XXX

This is usually lethal but in humans results in perfectly normal females for the most part

consanguineous mating

INCEST IS BAD MMMMKAAAY

cis

alleles are together on the same chromosome, in coupling

trans

alleles are on different homologs, in repulsion

linkage

association of genes together on the same chromosome

recombination

process of generating nonparental gametic types

recombination frequency

nonparental gametes/total gametes*100, maxes out at 50%

cohesin

protein complex responsible for binding sister chromatids or homologous chromosomes in mitosis/meiosis

separase

enzyme responsible for dissolving cohesin in anaphase, resulting in separation of homologous chromosomes/sister chromatids and breaking apart chiasmata

Interference

The inhibition of a crossover occurring near another crossover site. Is 1 - coefficient of coincidence. Intereference is complete within 10 map units

Auxotroph

A genotypic mutation resulting in an organism requiring additional nutritional supplementation compared to the wild type

NPD

Non-parental ditype - 4 strand double cross over, doubly recombinant, cross over occurs after replication

parental ditype

tetrad containing two parental genotypes, no crossover

tetratype (TT)

4 different genotypes, two parental two recombinant from a singular crossover, cross over occurs after replication

patroclinous

like father in phenotype

matroclinous

like mother in phenotype

polar body

discarded product of meiosis

Branch migration

changes region of hybrid DNA

Excision repair

eliminates base pair mismatches

Chromatid interference

the idea that in meiosis, a cross over two chromatids might affect which two chromatids cross over exist. This however, is not true and this is why recomb frequency maxes out at 50%

phototroph

wild type in respect to nutritional requirement, DOES NOT MEAN its a wild type

ade-2

encodes an enzyme that synthesizes adenine, mutant spores create red colonies