Term
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Definition
| condition in which two or more loci (genes) tend to be inherited together |
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Term
| Linked Genes 3 Characteristics |
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Definition
1. Have their loci on the same chromosome
2. Do NOT assort independently
3. BUT can be separated by crossing over and recombining |
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Term
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Definition
| exchange of genetic material between two homologous chromosomes by breakage and reunion |
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Term
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Definition
| Exchange of unique genetic material between nonsister chromatids during meiosis |
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Term
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Definition
| groups of loci located on the same chromosome |
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Term
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Definition
| graphic illustrations detailing the location of loci along a chromosome and the distance loci are apart |
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Term
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Definition
1mu=1% Recombination
Estimate of how often crossing over will occur between two loci |
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Term
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Definition
1. Complete Linkage
2. Incomplete Linkage |
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Term
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Definition
| independent assortment then no recombination between 2 Loci (very close together) |
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Term
| Type of Cross Used in Linkage Problems |
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Definition
| Recessive Backcross with a 1:1:1:1 Ratio |
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Term
| 3 Parts of a Linkage Problem |
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Definition
1. Distance
2. Linkage
3. Configuration |
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Term
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Definition
| how the genes "line up" together |
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Term
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Definition
1. Coupled: A-B, a-b
2. Repulsed: A-b, a-B |
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Term
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Definition
1/2 cross over and 1/2 do not cross over
amount of recombination depends on how far apart the loci are
smallest%=Recombine
largest%=Parents
A to B - 20mu meaning 20% crossover and 80% do not cross (4 genotypes so half percentages) |
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Term
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Definition
1. chromosomes location studies
2. chromosome mutation
3. genetic disease
4. molecular markers - DNA Regions linked |
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Term
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Definition
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Term
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Definition
1. Transmission Genetics (main ideas, seeing traits that have direct links)
2. Cytological Genetics (linkage, chromosomes) |
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Term
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Definition
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Term
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Definition
organized outlay of all chromosomes see 23 specific
These we see are looking at chromosomes condensed in metaphase with each being a dyad and looking at them separated from one another |
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Term
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Definition
1. 15-20% of all conceptions end in spontaneous abortions "miscarriage"
2. 40-50% of all spontaneous abortions are due to chromosome abnormalities
3. About 98.4% of all chromosome abnormalities are aborted about 1% are stillborn 0.6% are live born
4. 30,000 to 40,000 children are born each year in the US with a chromosome abnormally |
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Term
| 2 Major Groups of Chromosome Abnormalities |
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Definition
1. change in number of chromosomes
2. change in structure of chromosomes |
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Term
| Change in Number of Chromosomes Types |
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Definition
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Term
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Definition
| the addition or deletion of entire sets of chromosomes (monoploidy, triploidy, etc.) |
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Term
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Definition
| the addition or deletion of individual chromosomes (monosomy, trisomy, etc) |
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Term
| Change in Number of Chromosome Possible Causes |
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Definition
1. Fertilization Errors
2. Errors in Miosis and Mitosis |
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Term
| Types of Errors in Mitosis and Miosis |
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Definition
1. Non-dysjunction (do not pull apart during Anaphase)
2. Dual Replication (jump over Mitosis because gate keeper proteins are not ready so go from G2 back to G1 taking twice as much DNA) |
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Term
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Definition
1. Autopolyploidy
2. Allopolyploidy
3. Endoplyploidy |
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Term
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Definition
duplication of the same genome
Ex. many commercial plants, larger cell size, few or no seeds |
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Term
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Definition
duplication of resulting two different genome species level or higher
Ex. cultivated American cotton (26 Pairs of Chromosomes, 13 Large Old World and 13 Small Wild American) |
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Term
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Definition
combination of two entire genomes
(Cultivated American Cotton) |
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Term
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Definition
certain cells are polyploidy within abnormal 2N organism
Ex. vertebrate liver cells, Gerris (water spider) 40,00 chromosomes in salivary larva glands |
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Term
| All imbalanced aneuplodies are associated with .... |
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Definition
| multiple congenital anomalies (MCA) |
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Term
| Most anuplodies cause .... |
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Definition
| intrauterine growth problems (mistimings) |
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Term
| Anuplodies often affect ... |
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Definition
| CNS and cause neurological development problems |
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Term
| Anuploidy causes what percentage of severe mental retardation |
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Definition
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Term
| Other Common Aneuploidy Effects |
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Definition
1. meiotic dysfunction
2. defect development of gonads
-Primary amenorrhea (no cycle for female)
-delayed puberty
-sub-fertility / infertility |
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Term
| 2 Major Sources of Anuploidy |
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Definition
1. autosomal (40%)
2. sex chromosome (60%) |
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Term
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Definition
| collection of traits most often associated with a genetic problem |
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Term
| Anuploidy Syndromes associated with Sex Chromosomes |
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Definition
1. Turner's Syndrome
2. Klinefelter's Syndrome
3. Multiple X Syndrome
4. Double Y Syndrome |
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Term
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Definition
XO monosomy X
2N - 1 = 45 chromosomes
*all normal autosomes and one missing sex chromosomes* |
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Term
| Turner's Syndrome Physical Characteristics |
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Definition
-Female
-Short Stature
-Streak Gonads (not developed)
-Webbed Neck
-Shield Chest
-Sterility
-Amenorhea
-Normal IQ
-7% of Spontaneous Abortions
-1% of all Fertilization
-99% aborted
-Females with no Barr Bodies |
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Term
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Definition
XXY Trisomy X
aka Trisomy of Sex Chromosomes
2N + 1 = 47 chromosome
*all normal autosomes and one extra sex chromosomes* |
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Term
| Klinefelter's Syndrome Physical Characteristics |
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Definition
-Male
-Degenerate Testies
-Gynecomastia (man boobs)
-Broad pelvis
-higher pitch voice
-knock knee
-FSH
-normal or mild retardation IQ
-5% male subfertility
-treatment possible by testosterone
-Barr Bodies present |
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Term
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Definition
| can be caused by Klienfelter's Syndrome. treat by testosterone and huge uproar in ethics to when changes made to the body and how because double expression |
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Term
| Link between Turner's and Klienfelter's Syndrome |
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Definition
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Term
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Definition
XXX - Trisomy X : 2N+1
XXXX - Tetrasomy X : 2N+2
XXXXX - Pentasomy X : 2N+3 |
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Term
| Multiple X Syndrome Physical Characteristics |
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Definition
-Female
-Menstrual Irregularity
-Premature Menopause
-Under Developed Secondary Sex Characteristics
-Same to Lower IQ
-Behavior Problems |
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Term
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Definition
| XYY - Trisomy Y : 2N + 1 (Very Common) |
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Term
| Double Y Syndrome Physical Characteristics |
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Definition
-Male
-Normal to Tall
-Normal IQ
-Not many genes on the Y
URBAN MYTH: associated with criminal behavior |
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Term
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Definition
-often more severe MCAs
-majority of live births are trisomy
-monosomy not tolerated
-as much as 95% de novo, 5% Femelian
-both genders affected |
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Term
| Autosomal Anuploidy Syndromes |
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Definition
Down's Syndrome
Edwards Syndrome
Patau's Syndrome |
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Term
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Definition
| Trisomy 21 : 2N+1=47 chromosomes |
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Term
| Physical Characteristics of Down's Syndrome |
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Definition
-delayed motor development
-Epicanthal Fold
-Rapid aging, Alzheimer's
-heart trouble
-Simian Fold = striaght across hand folds
-flat facial profile
-underdeveloped sex characteristics
-often diabetic
-30% die year one
-50% die year five
-treat by antibiotics because immunity very low and increase life expectancy
-Down's females have reproduced 80% normal children |
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Term
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Definition
older the mother when reproduced, higher the chance you have to produce a Down's Child
like the Penrose Steps |
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Term
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Definition
Trisomy 18
2N + 1 = 47 Chromosomes |
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Term
| Physical Characteristics of Edward's Syndrome |
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Definition
elongated skull
skin redundancy
heart defects
webbed neck
horseshoe kidney
severe mental retardation
4 Female : 1 Male
most die within 6 months |
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Term
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Definition
Trisomy 13
2N + 1 = 47 Chromosomes |
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Term
| Physical Characteristics of Patau's Syndrome |
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Definition
many of Edward's Syndrome Characteristics
motor seizures
cleft palate
bilateral harelip
neurotic scalp ulcers
post - axial polydactyly
many premature
most die within 3 month |
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Term
| Change In Chromosome Structure Major Types |
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Definition
1. Deletions
2. Duplications
3. Rearrangements |
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Term
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Definition
1. Terminal (on the ends)
2. Intercalacy (internal) |
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Term
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Definition
part of chromosome (CENTROMERE) signals for deletions to be okay to preform
Ends are TELOMERES "end caps" not present on deleted piece so it becomes lost and eaten |
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Term
| Terminal Deletions Examples |
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Definition
1. Cri-du-chat Syndrome
2. Fragile X Syndrome |
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Term
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Definition
affects larnyx and voicebox (glottis)
deletion of chromomes short arm
cries like a cat
can be heterozygote and have this syndrome |
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Term
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Definition
loss of terminal part of C chromosome DNA repeat region
mental imparement, ranging from learning disabilities to mental retardation
attention deficate and hyperactivity
anxiety and unstable mood
autistics like behavior
long face, large ears, flat feet, and hyperextendale joints
most common in males because on X present bad and females have good that takes over unlike males
more repeats on chromosome that increases change to get syndrome |
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Term
| 2 Related Causes to Terminal Deletions |
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Definition
1. Gene Inactivation (Methylation of CG sections in A.A)
2. Gene Deletion |
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Term
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Definition
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Term
| Example of Intercalcy Deletions |
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Definition
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Term
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Definition
chromosome 7 small deletions
defectin elastin gene
heart disease |
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Term
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Definition
1. Tandem
2. Displaced (down by C. not near origin)
3. Reversed (backwards of gene insertion) |
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Term
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Definition
| often a rise from unequal crossing over |
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Term
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Definition
duplications are common because one or two reads are off clitter and loose C and G
everyone has these and how they preform DNA Fingerprinting despite there shortening and lengthening over time |
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Term
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Definition
1. Inversions
2. Translocation |
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Term
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Definition
segment of chromosome turned 180 degrees
occurs via loopage because loop ends become changed and swaps sides
position affect determines if they are usable or not |
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Term
| 2 Types of Inversion Rearrangements |
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Definition
1. Paracentric Inversion
2. Pericentric Inversion |
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Term
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Definition
| breaks and arm ratio stays the same during inversion (no centromere involved) |
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Term
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Definition
breaks and arm ratio changes and involves centromeres
Ex. Chimps and Human Chromosomes #4 |
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Term
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Definition
what occurs when we line up homologues correctly based on letters despite the lines having paracentric inversions
*** Occurs because we have problems in Meiosis *** |
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Term
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Definition
| equal exchange or crossover of non homologous chromosomes |
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Term
| Non Reciprocal Translocation |
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Definition
| not equal exchange or cross over of non homologous chromosomes |
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Term
| What determines the effect of Speciation Events? |
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Definition
| Reciprocal and Non Reciprocal Translocation |
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Term
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Definition
Southern Short Tailed Shrew
2N = 46 Chromosomes Normal
Memphis, TN 2N = 34-40, 46 Chromosomes
AR 2N=46 Chromosomes
Difference in chromosomes make them not mate |
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Term
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Definition
in Humans 21st chromosome sticks to the 14th
known as translocation carriers and are normal except 2N=45 Chromosomes
These people only have problems when they reproduce |
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Term
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Definition
occurs when translocation carriers reproduce
Down's can be tract through generations because of the translocation carriers
also can produce normal, Monosomy (lethal), and other translocation carriers |
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Term
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Definition
| the branch of biology that deals with heredity and the expression of inherited traits |
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Term
| Research that Contributed to Defining the Genetic Material |
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Definition
1. 1927-Griffith
1944-Avery, MacLeod, and Mccarty
Transforming Property = heritable properties are carried in DNA
2. 1952 - Hershey and Chase
DNA is the biomolecule of heredity
3. 1949 - 1953: Erwin Chargraff
Base composition / chemistry of DNA
4. 1953 - Watson and Crick
Chemical components, physical structure, and molecular form of DNA |
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Term
| Research that Contributed to Defining the Genetic Material |
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Definition
1. 1927-Griffith
1944-Avery, MacLeod, and Mccarty
Transforming Property = heritable properties are carried in DNA
2. 1952 - Hershey and Chase
DNA is the biomolecule of heredity
3. 1949 - 1953: Erwin Chargraff
Base composition / chemistry of DNA
4. 1953 - Watson and Crick
Chemical components, physical structure, and molecular form of DNA |
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Term
Question: What is the chemical nature of our genetics material?
Any Genetic Successful Material Must: |
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Definition
1. Store Complex Information
2. Replication Faithfully - High Fidelity
3. Be capable of Encoding Phenotype
4. Be Mutable |
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Term
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Definition
Virulence (Disease) and Nonvirulent (non disease)
Can an extract from dead bacterial cells genetically transform living cells |
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Term
| 4 Methods to Griffith's Experiment |
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Definition
1. Virulent Bacteria into a Mouse = Dead
2. NonVirulent Bacteria into a Mouse = Living
3. Heated Virulent to Kill Bacteria into a Mouse = Living Mouse
4. Nonvirulent plus heated virulent bacteria = Dead Mouse |
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Term
| Griffith Experiment Conclusion |
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Definition
| Transformation Principle something in the preparation change (transforms) nonvirulent material |
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Term
| 1944 - Avery, MacLeod, and McCarty Experiment |
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Definition
utilized previous findings from Griffith:
Takes Transformation Property and Looks to Find the Transformation Agent
Took Potential Agents (RNA, DNA, Proteins, Lipids, Chromatin) |
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Term
| Avery, MacLeod, and McCarty Experiment |
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Definition
RNase = Destroy RNA
Protease = Destroy Proteins
DNase = Destroy DNA
took heat killed cells - Treated with one about "ase" Reagent - added to new cell culture
OUTCOME:
RNase and Protease continued to transformation but DNase has NO transformation
"Experiment Supports that DNA is Capable of Transformation" |
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Term
Avery, McLeod, and McCloud
Practical Outcome |
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Definition
Nonvirulent bacteria plus heated treated Virulent bacteria plus "ase"
Protease = Dies, agent not destroyed
RNase = Dies, agent not destroyed
Lipase = Dies, agent not destroyed
DNase = Lives, agent destroyed
"The chemistry of transformation lies in a molecule whose compositions is DNA"
BUT DNA is living systems (chromatin) |
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Term
1952 - Hershey and Chase
Experiment |
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Definition
| used bacteriophage to show DNA is the genetic material |
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Term
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Definition
| Phage DNA inject DNA into bacteria - Replication and Synthesis of New Bacteriophage - Release Bacterophage |
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Term
| Hershey and Chase Physical Outcome |
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Definition
Protein Coat with Radioactive Phosphorous leads to phosphorous transfers into radioactive phosphorous
Protein coat with Radioactive Sulfur leads to radioactive sulfur did not transfer |
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Term
| Hershey and Chase Summary |
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Definition
1. Bacterophage inject DNA into bacterial cells
2. Progeny phage were labeled only with phosphorous
3. DNA is responsible for directing phage Reproduction; Protein is not the genetic material |
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Term
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Definition
1. Griffith discovered bacterial transformation
2. Avery, et. al. determined that "transforming principle was DNA
3. Hershey and Chase showed that no protein was transmitted by bacterophage, only DNA
4. DNA accepted as the genetic material |
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