Term
What exactly is a pedigree? |
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Definition
A pedigree is a family tree which displays known phenotypes. Special markings are used for individuals whose phenotypes are not known or who either died prematurely or are unknown for other reasons |
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Term
Give a brief overview of all main symbols used in pedigrees |
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Definition
Circles are used for females, squares for males and a diamond for unknown individuals. Colored in means affected by target trait, uncolored means not affected and half colored means that the individual is heterozygous/a carrier for the target trait |
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Term
Give a brief overview of the structure and lines used in pedigrees |
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Definition
A single line on the same level means breeding between non-relatives, double-line means between relatives. Individuals on the same line are typically within the same generation but not necessarily. Vertical lines descending from horizontal lines to form a new line with individuals means that those individuals are siblings and the individuals above are parents |
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Term
Let's say that an individual is affected by a dominant mutant. What does that mean in regards to their family? |
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Definition
They have to have an affected parent in order to acquire that trait (unless they somehow came to be affected by a novel mutation which is extremely rare) |
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Term
Explain how the pedigree of a family with some individuals affected by a recessive trait would look like |
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Definition
Most people would simply be carriers for the trait, some people would be free of the trait and some people would express the trait. Offspring of an affected individual would either possess the trait or be carriers for the trait depending on the phenotype of the other parent. Offspring of carriers would be affected at a rate of 25% free of trait, 50% carriers and 25% affected by the trait |
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Term
Give an example of incomplete dominance |
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Definition
Let's say there's a species of flowers whose petal color is determined by one allele. If the color options are red, pink and white and the parents are heterozygous then 25% would receive both dominant alleles and be red, 50% would be heterozygous and be pink and the last 25% would be homozygous recessive and be white |
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Term
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Definition
In the case of codominance a heterozygous individual would express the traits of both homozygous genotypes |
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Term
What is meant by the term "multiple alleles"? |
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Definition
It means that there are more than 2 types of genes in a population |
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Term
Explain dominance in terms of blood types |
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Definition
Types A and B blood are codominant with each other. Either type is dominant over type O blood. If neither A nor B exists then type O is present. |
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Term
Why might mutant phenotypes not be expressed? |
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Definition
There could either be multiple genes (that either code for the same mutation or aren't affected by the mutation in the case of a base change) or there could be environmental factors that prevent the phenotype from being expressed |
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Term
What does "variable expressivity" refer to? |
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Definition
It refer to the fact that there may be varying levels of expression for the same combinations of the same gene or gene groups. This could be caused by either gene interference or environmental factors |
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Term
What is penetrance and what equation could you use to determine it? |
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Definition
Penetrance is the proportion of people whose phenotype matches their genotype. You could use the equation [(resulting phenotype / same genotype within population) / same genotype within population ] x 100 to determine the percentage of people who match a given genotype based on their expressed phenotype |
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Term
What is "gene interaction" and what could it also be called? |
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Definition
Gene interaction is when one gene's expression interferes with the expression of another. It could also be called gene interference |
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Term
What is epistasis? Give 2 examples (just in the genotypes, not actual examples) |
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Definition
Epistasis occurs when one gene's expression masks that of another gene. You could have something like recessive epistasis where with a homozygous recessive genotype you get a 9:3:4 offspring expression ratio or you could have duplicate dominant epistasis where both dominant alleles of any volume result in the same phenotype; offspring have a 15:1 ratio in this case |
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Term
What does complimentation refer to? How is different from the norm? |
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Definition
Complimentation refers to when there are 2 mutations on alleles on different genes. In the case of a recessive trait if there is only one copy in 2 different places the wildtype will result within the phenotype. This is different from just one single gene spot coding for a trait; this is where things like hair color get such deviation from |
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Term
How could you check for complimentation using data from a mutation cross chart? |
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Definition
Arrange all of the known mutant genes around a circle and for any crosses which result in a mutant phenotype draw a line between each gene. For every gene connected by a line (or indirectly connected by lines) you know that each of those mutant genes are in the same location |
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Term
What does "chromosome compliment" refer to? |
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Definition
It simply refers to a complete set of chromosomes with no additional or missing chromosomes |
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Term
What are somatic cells and what specific term are they called? |
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Definition
Somatic cells contain the standard number of chromosomes (46 individual chromosomes / 23 pairs including the X/Y pair). They're called diploids since they contain 2 copies of each chromosome |
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Term
What term is used to refer to germ cells? |
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Definition
They are called haploid since they only contain one individual chromosome from each original pair |
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Term
What is the primary function of the G1 phase of interphase? |
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Definition
Here there are 3 critical checkpoints that the cell must pass in order to go on to the S phase (you only have to know that there are checkpoints involved, not that there are actually 3, I just know that from AP Bio) |
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Term
What is the primary function of the S phase of interphase? |
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Definition
The primary function here is to copy DNA so that there is enough DNA to be given to each daughter cell |
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Term
What is the primary function of the G2 phase of interphase? |
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Definition
Check the DNA for copying errors or damage and repair those issues |
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Term
What happens to chromosomes during interphase? |
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Definition
The chromosomes compact and, with proper staining techniques, can be viewed under a light microscope under the right conditions |
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Term
What critical processes happens during metaphase? |
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Definition
Mitotic spindle fibers form and attach to the centromeres at the kinetochore. Once they're attached the chromosomes move towards the center of the cell until they're right in the middle of the 2 centromeres from which the spindle fibers originate |
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Term
What critical process happens during anaphase? |
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Definition
The chromosomes seperate and start to go towards what will eventually become their respective daughter cells. Once this split occurs the chromosomes are regarded as individual chromosomes in their own regard |
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Term
What more collective phrase can be used to describe the process that happens in telophase? |
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Definition
The daughter cells split from each other and evidence of cell division fades away |
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Term
What does meiosis do and how many chromosomes does each resulting haploid have? |
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Definition
Meiosis produces gametes for reproduction and each resulting haploid has 23 individual chromosomes |
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Term
What are meiocytes and what are they called in humans? |
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Definition
They're sex cells; for women they're oocytes (pronounced oo-oh-sites, oo as in "moo") and men they're spermocytes |
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Term
What is produced when homologous chromosomes pair up during the prophase 1 stage of meiosis? |
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Definition
A 4-stranded structure is produced which then undergoes crossing over |
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Term
What is another word for crossing over? |
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Definition
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Term
What is the chiasma and how is it possibly one of the most important features of all cellular divisions? |
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Definition
Chiasma is the physical result of recombination. Without chiasma all chromosomes of individuals would be exactly the same as each other and there would be no difference between individuals of any given species |
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Term
What is one key detail to note in regards to the crossing over during prophase 1? |
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Definition
The chromosomes are no longer identical along their entire length. Because they swaped some material during crossing over there could be mutations on a crossing over section which are now on a chromosome from a different individual when no such mutations existed before |
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