Term
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Definition
A phenotype under environmental influence appears the same as a phenotype determined by the genotype. |
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Term
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Definition
Determines when and how often transcription occurs. |
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Term
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Definition
Specifies the amino acid sequence of a protein. |
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Term
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Definition
Site where RNA polymerase recognizes and binds on regulatory region. |
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Term
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Definition
Lacks normal gene function. Non-functional protein is produced (if allele is in protein-encoding region) or no protein is produced (if allele is in the regulatory region). *recessive |
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Term
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Definition
Lacks normal gene function. Non-functional protein is produced (if allele is in protein-encoding region) or no protein is produced (if allele is in the regulatory region). *recessive |
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Term
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Definition
Poor gene function. A poorly functioning protein is produced (if allele is in protein-encoding region) or reduced amount of regularly functioning protein is produced (if allele is in regulatory region). *recessive |
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Term
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Definition
Negative phenotypic consequences due to increased gene expression. Due to over-production of a normal protein (if allele is in regulatory region) or protein with increased activity (if allele is in the protein-encoding region). *dominant |
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Term
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Definition
Negative phenotypic consequences due to altered protein with new function or when altered protein interferes with wild type (allele always in protein-encoding region). *dominant |
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Term
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Definition
2pq The proportion of individuals in a population who have inherited a single copy of a specific recessive gene mutation. |
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Term
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Definition
dynamic pieces of chromatin that can alternate between tight and loose compaction. |
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Term
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Definition
Combination of DNA and protein that make up contents of the nucleus. |
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Term
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Definition
specific regions of a nucleus occupied by chromosome |
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Term
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Definition
Number and appearance of chromosomes in a eukaryotic somatic cells (mitotic cells must be used for karyotyping) |
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Term
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Definition
Dark bands are often constituative heterochromatic regions. Light bands are euchromatic regions. |
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Term
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Definition
female: ZW male: ZZ *WW not viable :( |
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Term
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Definition
Sex of a species in which both chromosomes are the same. (XX) |
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Term
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Definition
Sex of a species in which both chromosomes are NOT the same. (XY) |
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Term
Sex Chromes of reptiles and amphibians |
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Definition
XX/XY or ZW/ZZ or no sex chromosomes |
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Term
Sex of organisms that are not determined by sex chromosome are likely decided by: |
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Definition
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Term
Haplo-Diplo sex determination |
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Definition
Haploids are male. Diploids are female |
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Term
Sex Chromes of ants, bees, and wasps. |
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Definition
Haplo-Diplo sex determination Haploids are male (ex: drone bees) Diploids are female (ex: queen bees, worker bees) |
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Term
Drosophila sex determination |
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Definition
Male determining genes are autosomal while female determining genes are on the X chromosome. |
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Term
Drosophila with 6 autosomes + XX |
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Definition
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Term
Drosophila with 6 autosomes + XY |
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Definition
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Term
Drosophila with 6 autosomes + X |
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Definition
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Term
Drosophila with 6 autosomes + XXY |
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Definition
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Term
X-linked recessive traits |
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Definition
Person is affected if all X chromosomes carry allele.
i.e. XaXa & XaY |
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Term
X-linked coat colour in cats as an example of X inactivation. |
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Definition
XoB - black
XoO - orange/yellow
XoBXoO - calico
*calico is the presense of black and areas on the coat. |
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Term
now take a break & breathe |
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Definition
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Term
Drosophila eye colour as an example of X-linked traits
red eyes female x white eyed males
F1 ?
F2 ? |
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Definition
F1: all red eyed
F2: all females have red eyes
1/2 males have red eyes
1/2 males have white eyes
XrXr XrXw XrY XwY |
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Term
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Definition
Inactivated X chromosome made up of heterochromatin. Occurs at random in early in embryonic development.
Each cell will express either maternal or paternal X chromosome and have the other as a Barr body |
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Term
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Definition
Inactivation of one of the X chromosome in XX females equalizes X-linked genes expression in males and females. |
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Term
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Definition
Different cells/tissues throughout the body will express maternal or paternal X chromosome. i.e. red green colour blindness in one eye but not the other |
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Term
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Definition
When two genes are on different chromosomes or more than 50 map units apart on one chromosome the pairs separate independently during the formation of gametes. |
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Term
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Definition
Do not experience crossing over because they are so close on the same chromosome. |
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Term
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Definition
Less than 50 map units apart on the same chromosome. Crossing over may occur giving more options as to the types of gametes which can be produced. Frequency of crossing over is a measure of distance between genes. |
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Term
formula to find distance between closely linked genes. |
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Definition
(total # of recombinants / total # of offsrping) x 100 = map units |
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Term
Result of dihybrid test cross if independent assorting |
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Definition
4 classes of offspring in equal frequency 1:1:1:1 |
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Term
Result of a dihybrid test cross with tightly linked genes |
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Definition
Two classes of offspring with equal frequency. 1:1 |
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Term
Result of a dihybrid test cross with closely linked genes |
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Definition
Four classes of offspring. Two with large frequency; two with small frequency. |
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Term
Examples of genes that are closely linked. |
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Definition
ABO blood and Nail-Patella Syndrome(rare autosomal dominant condition)
ABO <- 20 map units -> N/n
classic haemophilia and reg-green colourblindness are closely linked on the
X chromosome
H/h <- 10 map units -> CB/cb
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Term
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Definition
One of the alleles is completely dominant over the other. i.e. Hets and homozygous dominant will be affected with dominant condition. B- is black bb is brown |
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Term
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Definition
One of the alleles is completely dominant over the other. i.e. Hets and homozygous dominant will be affected with dominant condition. B- is black bb is brown |
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Term
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Definition
Heterozygous phenotype is distinguishable from both homozygous phenotypes. |
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Term
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Definition
Heterozygous phenotype is distinguishable from both homozygous phenotypes. |
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Term
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Definition
Heterozygous phenotype is distinguishable from both homozygous phenotypes. |
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Term
incomplete dominance of snap dragons |
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Definition
W1W1 = white
W1W2 = pink
W2W2 = red |
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Term
partial dominance of chickens |
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Definition
F1F1 = normal plumage
F1F2 = frizzled
F2F2 = naked |
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Term
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Definition
C+C+ = sorrel/chestnut
C+Ccr = palomino
CcrCcr = cremello
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Term
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Definition
expressed in heterozygous and homozyogous dominant
i.e. Huntington Disease |
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Term
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Definition
expressed only in homozygous recessive offspring
i.e. individual homozygous for Tay Sachs allele is unlikely to live past age 3 |
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Term
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Definition
a range of phenotypes can be expressed by a genotype
i.e. polydactyly |
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Term
examples of autosomal dominant variable expressivity |
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Definition
polydactyly, split hand-foot disease, piebaldism,Huntington disease |
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Term
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Definition
neuro-degenerative disease which causes loss of muscle coordination, cognitive decline, and dementia |
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Term
high frequency of Huntingtons disease in Lake Maracaibo area and Mauritis |
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Definition
Founder effect (many people in each of these areas can trace their HD to a single person) |
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Term
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Definition
different mutations at the same locus can cause a similar phenotype.
*can explain variable expressivity in some diseases |
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Term
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Definition
phenotype: mucus clogs lungs and leads to infection and/or mucus clogs pancreatic ducts and leads to digestive problems
genotype: CF allele encodes a chloride channel protein. Many CF alleles are known. |
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Term
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Definition
An allele is nit expressed even though it is present in an individual. |
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Term
formula to find penetrance |
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Definition
penetrance = # affected / total # with allele |
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Term
Phocomelia as an example of phenocopy effect |
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Definition
Phocomelia is a genetic condition associated with shortening or absence of limbs. However certain drugs taken during pregnancy can lead to a similar phenotype. |
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Term
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Definition
A single gene can be responsible for a number of distinct and seemingly unrelated phenotypic effects. |
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Term
sickle cell anemia as an example of pleitrophy |
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Definition
Can be expressed as respiratory effects, sickled cells, stroke, chronic infections, joint pain, and/or enlarged spleen. |
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Term
cystic fibrosis as an example of pleiotrophy |
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Definition
mucus can lead to mucus build-up in the lungs (leads to infection) and/or mucus obstructing the pancreatic ducts (leads to digestion problems) |
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Term
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Definition
Two individual genes can individually produce the same phenotype.
If individual is homozygous reccessive for only one gene wild type phenotype is observed. |
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Term
albinism as an example of locus heterogeneity |
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Definition
Many different genes can be associated with the lack of pigment associated with albinism
i.e. SS (extensive white)
W- (all white)
cc (albino)
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Term
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Definition
Different combinations of alleles from two or more genes can results in different phenotypes (because of interactions at cellular or biochemical level). |
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Term
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Definition
A type of gene interaction in which one gene seems to prevent the phenotypic expression of another. |
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Term
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Definition
One gene has an over-riding effect on another. |
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Term
Albinism as an example of epistasis. |
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Definition
Gene C which controls coat colour is epistatic to all other coat colour genes when homozygous recessive.
i.e. AaBBcc = albino |
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Term
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Definition
Both males and females have these genes but expression of theses traits varies from males to females. |
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Term
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Definition
Both males and females have a gene but only one sex expresses the trait.
i.e. milk production, development of secondary sex characteristics |
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Term
crypto-orchidism as an example of sex-limited trait |
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Definition
autosomal recessive trait
in dogs
aa females are normal
aa males have undescended testes |
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Term
pattern baldness as an example of sex-influences traits |
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Definition
follows dominant pattern in males and recessive pattern in females
(B2 = baldness allele)
B1B1 - males: normal; females normal
B1B2 - males: affected; females normal
B2B2 - males: affected; females affected |
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Term
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Definition
Worsening of symptoms and earlier onset with each generation.
Seen in traits which have genes that can expand "accordion genes" |
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Term
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Definition
Trinucleotide repeats found within genes which can expand over generations. |
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Term
Myotonic Dystrophy as an example of dynamic mutation. |
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Definition
rare autosomal dominant disorder: CTG repeats 1-30 repeats = phenotypically normal ~50 repeats = eye problems ~100 repeats = muscular weakness >200 repeats = sever muscular weakness and earlier onset |
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Term
Huntington Disease as an example of genetic anticipation |
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Definition
CAG repeats ~6-35 = normal ~36-100 = affected individual > 100 = affected individual with early onset |
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Term
Fragile X Syndrome as an example of dynamic mutation/genetic anticipation |
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Definition
CGG repeats ~6-50 = normal ~50-200 = repeats still normal but offspring at risk >200 = affected individual *most common form of mental impairment in humans |
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Term
Repeats within the protein encoding regiion |
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Definition
Lead to long tracts of a single repeated amino acid. Resulting protein may: - misfold/aggregate - misfold and be degraded - have a new function |
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Term
Repeats outside of the protein-encoding region |
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Definition
Typically create null alleles. |
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Term
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Definition
Chromosomal defects which do not alter the DNA sequence can alter gene expression. |
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Term
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Definition
Modifications in gene expression that are caused by heritable but potentially reversible changes to chromatin structure and/or DNA methylation. |
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Term
Changes to chromatin structure include: |
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Definition
Level of compaction. De-acetylation of histones Chemical modification to DNA (methylation) |
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Term
Chromatin structure changes which lead to transcriptional repression |
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Definition
DNA metylation Histone de-acetylation |
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Term
Chromatin structure changes which lead to transcriptional activation |
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Definition
De-methylation of DNA Histone acetylation |
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Term
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Definition
Parent specific epigenetic effects.
The modification of genes/chromosome regions for greater or lesser expression in one parent than the other |
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Term
Dwarf Igfb genes as an example of genomic imprinting. |
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Definition
mutant allele from father + normal allele from mother = dwarf
normal allele from father + mutant allele from mother = normal
*normal gene is methylated in mother |
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Term
Prader-Willi Syndrome and Angelman syndrome |
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Definition
involve deletion of region of chromosome 15 (parent-specific imprinted region) |
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Term
Prader-Willi Syndrome and Angelman Syndrome as an example to genomic imprinting |
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Definition
Prader-Willi: paternal deletion of c15 0r two maternal and no paternal c15 (both regions methylated) Angelman: maternal delection of c15 or two paternal and no maternal c15 (both regions methylated ) |
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Term
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Definition
2 chromosomes from one parent |
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Term
Frequency of causes of Angelman Disease |
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Definition
deletion: 65-70% uniparental disomy: 5% imprinting defect: 5% mutation: 10% |
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Term
Frequency of cause of Prader-Will Disease |
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Definition
deletion: 65-75% uniparental disomy: 20-30% imprinting defect: 5% mutation: 0.1% |
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Term
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Definition
Short sequences of DNA that change change position within the genome. *can move into protein-encoding or regulatory region *can exit completely or poorly *can leave a copy behind when they exit |
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Term
Maize as an example of transposable elements |
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Definition
dark spots = normal allele light spots = null allele |
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Term
Grapes as an example of transposable elements |
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Definition
normal allele = dark skin (noir/gris) large transposon (10,000bp) in regulatoty region = light skin (blanc) remnant of transposon (40-800bp)in regulatory region = red skin (rouge/rosé) |
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Term
Mendel's peas as an example of transposable element |
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Definition
transposable element in the middle of the gene leads to wrinkled mendel pea (no functional starch-brancing gene) |
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Term
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Definition
Circular and double stranded. Encode for proteins used only in the mitochondria.
Of maternal inheritance (sperm only transfer nuclear DNA) |
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Term
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Definition
~17 kp (17,000bp) 37 genes encoded 13 of over 3000 proteins used in the mitochondria. |
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Term
defects in oxidative phosphorylation are most likely to be due by |
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Definition
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Term
Defects of oxidative phosphorylation due to mutations in mtDNA |
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Definition
MERRO Myoclonic Epilepsy and rapper red fiber disease LHIN Leber's heriditary optic neuropathy NARP neurongenic muscle weakness, ataxia, retinitis regmentosum MELAS mitochondrial enceohalomyopathy, lactic acidosis, stroke-like symptoms MMC maternally inherited myopathy and cardiomyopathy |
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Term
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Definition
proportion of mutant mitochondria (and other organelles etc) vary from cell to cell due to random segregation |
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Term
Percent of mutant mitochondria need for a cell/person to be affected. |
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Definition
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Term
factors affecting gene expression in mitochondrial disorders |
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Definition
Number of mutant mitochondria per cell Severity of mutation Affect of mutation on energy production Energy requirements of tissue involved |
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Term
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Definition
circular (usually) double stranded DNA 85 to ~ 300 kb 130 genes encodes proteins used in photosynthesis |
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Term
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Definition
nuclear DNA, chloroplasts and mitochondria |
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Term
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Definition
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Term
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Definition
plant cell with two types of chloroplasts which are responsible for leaf variagation in certain plants. |
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Term
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Definition
Different coloured zones on leafs Appears as irregular mottling/spotting
Can be due to transposable elements or viruses. |
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Term
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Definition
one set of chromosomes
i.e. male bees |
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Term
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Definition
two sets of chromosomes
i.e. humans, most animals |
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Term
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Definition
more than two sets of chromosomes Many polyploids are sterile due to problems with pairing/segregation of homologous chromsomes. i.e. 30-35% of flowering plants |
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Term
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Definition
All chromosome sets are identical and come from the same species
more growth/less seed production |
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Term
commercial banana as an example of polyploidy (and associated meiosis problems) |
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Definition
3N=33 Split into a mixture of trivalents, bivalents, and univalents. Gametes with extra or lacking chromosomes are not viable |
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Term
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Definition
polyploids that result from crossing two or more (usually unrelated) species |
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Term
Bread Wheat as an example of allopolyploids. |
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Definition
wild einkeorn wheat (2N=14) + wild grass (2N=14) = Emmer wheat (2N=14) sterile (4N=28) tetraploid fertile |
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Term
upland cotton as an example of polypliody |
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Definition
allotretraploid
American cotton (2N=26) + Old World Cotton (2N=26) = Upland Cotton s(2N=26) f(4N=52) 2N = amphidiploid |
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Term
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Definition
an interspecific hybrid having a complete diploid chromsome set from each parent form |
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Term
Triticale as an example of amphidiploid/polyploidy |
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Definition
Emmer wheat (4N=28) + Rye (2N=14) = Triticale (3N=21) two each N from emmer 1 from rye double chromosomes (6N)=42 *has best qualities drom rye and wheat: high protein, high lysins, heartiness in poor soil |
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Term
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Definition
Transgenic variety of rice that contain beta-carotene. Two beta-carotene biosynthesis genes are inserted into the regular genome. |
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Term
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Definition
Sister chromatids separate but no cytokineses occurs. i.e. if endomitosis occurs once it could result in a tetraploid liver cell |
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Term
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Definition
Diploid gene which lacks a chromosome or has an extra chromosome. *can be caused by meiotic nondisjunction |
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Term
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Definition
extra 21 (2N=47) 96 % due to meiotic nondisjunction (80% oogenesis; 20%spermatogenesis. 4% due to translocations in one of the parents. Short broad hands with palmar crease, short stature, mental retardation, broad head, round face, open mouth with large tongue, epicanthal fold. |
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Term
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Definition
extra 13 (2N=47) avg lifespan 6 months Mental deficiency, deafness, minor muscle seizures, clept lip/palate, cardiac abnoramalities, posterior heel prominence. |
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Term
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Definition
extra 18 (2N=47) avg lifespan 3 months congenital malformation of many organ, low set mal-formed ears, receding mandible, small mouth/nose, elfin appearance, mental deficiency, horseshow/double kidney, short sternum. |
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Term
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Definition
X- (2N=45) missing X FEMALE with slow sexual development, sterility, short stature, webbing of skin in neck region, cardiovascular abnormalities, hearing impairment. Growth Hormone therapy ad estrogen therapy at puberty |
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Term
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Definition
XXY (2N=47) MALE, subfertile, small testes, developed breasts, feminin-pitched voice, knock-knees, long limbs. |
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Term
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Definition
XXX (2N=47) normal phenotype but can be taller and experience fertility problems. |
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Term
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Definition
(2N=47) normal phenotype but usually taller than average. |
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Term
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Definition
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|
Term
Chromosome identification is based on: |
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Definition
Size Centromere position Banding patterns produced by different stains. |
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Term
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Definition
Two breaks in the chromosome, a small area is lost and the larg pieces rejoin.
Occurs during prophase |
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Term
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Definition
Deletions within a gene typically inactivate the gene Null Mutation |
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Term
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Definition
Involve deletions of two or more genes. Lead to deletion syndromes. |
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Term
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Definition
Deletion of tip of p arm of chromosome 5 Heterozygous for mutant allele are affected, homozygous for mutant allele are not viable. Arises spontaneously in germ-line cells of a normal parent. Feeding problems, poor growth, speech problems, cardiac defects, mental/motor impairment. |
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Term
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Definition
Extra copy of a gene or chromosomal region. Duplicate genes can be adjacent or located in a novel location. Gene mutation in these areas allow for many opportunities for divergent function. |
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Term
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Definition
The dysfunctional relatives of genes that have lost their protein-coding ability or are otherwise no longer expressed in the cell. |
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Term
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Definition
A set of several similar genes, formed by duplication of a single original gene, and generally with similar biochemical functions. |
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Term
Charcot-Marie-Tooth Disease as an example of duplication mutations. |
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Definition
Commonly caused by duplication of a large section of short arm of chromosome 17 Autosomal dominant Many genes are associated with this condition most encode for peripheral myelin proteins. Slow progressive deterioration/degeneration of peripheral nerves and muscle in foot/lower leg and hand/forearm. |
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Term
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Definition
Inverted region does not include centromere. |
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Term
|
Definition
Inverted region includes centromere. |
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Term
|
Definition
Paracentric
(inversion does not include centromere) |
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Term
|
Definition
Pericentric
(inversion does include centromere) |
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|
Term
4 gametes possible from inversion mutation during meiosis |
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Definition
1) normal (parental) 2) normal with inversion (parental) 3) & 4) Duplication and deficiency gametes (recombinants) |
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Term
Reciprocal Translocations |
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Definition
Usually the exchange of materials between non homologous chromosomes. |
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Term
Robertsonian translocations |
|
Definition
Involve chromosomes 13, 14, or 21. |
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Term
Down Syndrome as an example of Robertsonian translocation |
|
Definition
long arm of chromosome 21 joins with long arm of chromosome 14. Heterozygous carrier is phenotypically normal but their progeny may inherit an unbalanced trisomy 21. |
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Term
Unidirectional translocations |
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Definition
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|
Term
Burkitt Lymphoma as an example of translocation mutations. |
|
Definition
Often associated with reciprocal translocation of chromosome 8 & 14. Places photo-oncogene cMyb from chromosome 8 beside a regulatory region of immunoglobin genes (i.e. 14). Immunoglobin genes are highly expressed and cMyb genes placed beside this regulatory region will lead cMyb to be highly expressed as well. Photo-oncogene encodes a protein which regulates the cell cycle and over-expression can lead to cancer. |
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Term
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Definition
Highly condensed and gene poor chromatin typically found at the centromere and telemere. No meiotic recombination. |
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Term
|
Definition
Less condensed and gene rich chromatinfound on chromosome arms. Recombination at meiosis. |
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