Flashcards in Exam 1 Deck (114)
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1
Mendel's Laws
Independent assortment - Alleles of one gene segregate independently from alleles of another gene
Equal segregation - Alleles of a gene segregate into gametes at equal ratios
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Human Genome
20-30k genes (30%)
Extragenic DNA (70%)
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Hardy-Weinberg Assumptions
1. Population is infinitely large and effects of random genetic drift are negligible
2. Mating is random with respect to genotypes
3. No new mutation is introduced
4. Natural selection does not affect geneotype frequency
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Hardy-Weinberg equation
p^2+2pq+q^2=1
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Founder Effect
A high frequency of a specific gene mutation in a population founded by a small ancestral group
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Population Bottleneck
Population is reduced, survivors with mutation spread the mutation resulting in a high mutation frequency in the newly burgeoning population.
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Jewish Related Diseases
Bloom syndrome
Breast cancer
Canavan disease
Dysautonomia
Factor IX deficiency
Gaucher disease
Idiopathic torsion dystonia
Niemann-Pick disease
Tay Sachs
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Patterns of Inheritance - Mendelian
Autosomal Dominant
Autosomal recessive
XLR
XLD
Y-linked
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Patterns of Inheritance - Non-Mendelian
Imprinting
Mitochondrial
Multifactorial
Sporadic
Conitguous gene syndromes
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Nucleotide vs Nuceloside
Nucleotide - sugar, nitrogenous base, phosphate
Nucleoside - sugar, nitrogenous base
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Pyrimidines - smaller
Thymine, Cystosine, Uracil
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Purines - larger
Adenine, Guanine
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Chargaff's Rule
[A]=[T]
[C]=[G]
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RNA vs DNA
2' OH on Ribose absent on Deoxyribose
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TATA Box
Promoter region
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5' Cap and Poly A tail
Help in stability and transport of mature mRNA
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RNA Splicing
Donor site, acceptor site, branch site, lariat.
Lariat is donor plus branch end formed into a loop
Spliceosome splices out intron and carries it away
Splicesome contains small nuclear RNAs and small nuclear riboproteins
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Post translational protein modification
1. Protein cleavage
2. Ubiquitination - can mark a protein for degradation
3. Addition of small chemical groups - phosphorylation, acetylation, methylation
4. Addition of other types of chemical groups - Glycosylation, palmitoylation
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Point mutations
Transitions - A>G, G>A or T>C, C>T (more common)
Transversions - A>T, C>G, G>C, T>A
Deamination - C>U
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Pyrimidine Dimers
Ultraviolet light can create kinks in DNA, pyrimidines bond together which bends the DNA at that spot (kink)
Interferes with DNA replication and can lead to mutation
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Large scale del/dups
Often caused by errors in recombination and replication
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Insertions
Transposons can insert into stretches of DNA and disrupt transcription
-Alu elements most common transposable element in genome
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Repeat expansions
Short highly repetitive sequences are prone to slippage
-Increase in number of repeats leads to mutation
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Stop Codons
UAG
UGA
UAA
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Mutation Nomenclature
Numbering begins at start codon ATG/AUG (1)
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Analysis of complex DNA
PCR, Cloning - Selective replication of a segment of DNA
Molecular hybridization - detection within a complex micture
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Cloning - Formation of Recombinant DNA
1. Purification of DNA vector
2. Purification of complex DNA target
3. Digestion of both by restriction enzyme
4. Ligation of target DNA to vector
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Cloning - Steps 2, 3, and 4
2. Transform recombinant DNA into host cells
3. Grow individual transformants to form colonies
4. Further expand clones and isolate recombinant DNA
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PCR
-Need template DNA, oligo primers, DNTPs, thermostable DNA polymerase
-Can genotype repeat expansion diseases
-Allele-specific PCR is useful for detecting nucleotide variants
-3 uses - SNP detection, large del/dups, repeat expansion diseases
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