How many Haploid BP in the Human Genome
What is the current best estimate of number of genes in the human genome?
How does Phenotypic Variation Arise?
sum of all the exons.
Biggest sources of variation
DNA Replication Errors and Meiosis.
DNA Replication Errors
DNA Replication Errors is the source of variation that Darwin spoke of
On average how many polymorphic differences would yo find if you compared the genomes of two randomly chosen humans?
1 Million (1 Million/23 Chromosomes)
Which will give you better polymorphism screens? DNA polymorphisms screens or Protein Polymorphism screens?
DNA Polymorphism Screens
Interim Summary: Types of DNA Polymorphisms
Which of these is the most automatable of the polymorphisms?
SNPs are Binary and that has revolutionized medicine because we can use binary computer code (1’s and 0’s).
How many base pairs differentiates human beings from one another?
How many polymorphisms?
Result from DNA sequence differences that occur at restriction sites in the human genome. The locations of these sites are found by hybridizing restriction fragments with cloned probes.
VNTR polymorphisms are detected on the basis of differences in
Number of G Nucleotides
Number of Histones
Number of Promoter Sequences
Molecular Weight (Because one will have more repeats than the other we can separate them based on the molecular weights)
STRP or VNTR
STRP -- Microsattellite Repeats
VNTR -- Minisatellite Repeats
Tandem repeats consisting of short segments of DNA (microsatellites) or somewhat longer segments (minisattellites whose length can be14 to 500 bps) that are repeated over and over in tandem.
CNV represents differences in Larger Segments of DNA (bp's > 1000 to 2 million bp)
How Can Do we Detect Tandem Repeat Polymorphisms
Function of PCR
Explain Next Gen Sequencing
Defining Variability in Individual Genomes
All of the above
Explain Snip Chips
Visualizing SNP CHIP
What are causes of Genetic Variation in Populations
Summary of Key Points