HMB265H1 Final: Study notes for lecture 3

1. Tell the difference between single nucleotide polymorphisms(SNP), copy number variants (CNV) and chromosomalrearrangements.

Why do you think that the vast majority of variance in the human genome comes from single-nucleotide polymorphism? What factors would discourage copy-number variations from being the dominant mutation type?

An addition or deletion or substitution of one or more nucleotides in any symmetrical restriction site will inactivate that site. For_______1_______ within an______2______ site, _______3_______ (______4_____ ), the site is lost. The opposite event could restore________5_______ site.

(This is fill in the blank. There are 5 blank. The word bank is below:

insertion

-CTGCAG- → -GCGC-

-GCTGC- → -GCGC-

PstI

HhaI

-CCTG- → -GCGC-

EcoRI

deletion

-CCTG- polymorphism

a tetranucleotide repeat -AATT-

HpaII

-GCTGC- polymorphism

-GAATTC- → -GAATTAAATTC-

substitution