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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

2

Human Genome

20-30k genes (30%)
Extragenic DNA (70%)

3

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

4

Hardy-Weinberg equation

p^2+2pq+q^2=1

5

Founder Effect

A high frequency of a specific gene mutation in a population founded by a small ancestral group

6

Population Bottleneck

Population is reduced, survivors with mutation spread the mutation resulting in a high mutation frequency in the newly burgeoning population.

7

Jewish Related Diseases

Bloom syndrome
Breast cancer
Canavan disease
Dysautonomia
Factor IX deficiency
Gaucher disease
Idiopathic torsion dystonia
Niemann-Pick disease
Tay Sachs

8

Patterns of Inheritance - Mendelian

Autosomal Dominant
Autosomal recessive
XLR
XLD
Y-linked

9

Patterns of Inheritance - Non-Mendelian

Imprinting
Mitochondrial
Multifactorial
Sporadic
Conitguous gene syndromes

10

Nucleotide vs Nuceloside

Nucleotide - sugar, nitrogenous base, phosphate
Nucleoside - sugar, nitrogenous base

11

Pyrimidines - smaller

Thymine, Cystosine, Uracil

12

Purines - larger

Adenine, Guanine

13

Chargaff's Rule

[A]=[T]
[C]=[G]

14

RNA vs DNA

2' OH on Ribose absent on Deoxyribose

15

TATA Box

Promoter region

16

5' Cap and Poly A tail

Help in stability and transport of mature mRNA

17

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

18

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

19

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

20

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

21

Large scale del/dups

Often caused by errors in recombination and replication

22

Insertions

Transposons can insert into stretches of DNA and disrupt transcription
-Alu elements most common transposable element in genome

23

Repeat expansions

Short highly repetitive sequences are prone to slippage
-Increase in number of repeats leads to mutation

24

Stop Codons

UAG
UGA
UAA

25

Mutation Nomenclature

Numbering begins at start codon ATG/AUG (1)

26

Analysis of complex DNA

PCR, Cloning - Selective replication of a segment of DNA
Molecular hybridization - detection within a complex micture

27

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

28

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

29

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

30

Hybridization

In a complex mixture, can use a probe for a known nucleic acid or oligonucleotide. Hybridizes to sequence of interest.
-Southern Blot
-Microarray