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Pharmacogenetics Exam 1
phar 4166, texas tech pharmacy
4
Biology
Professional
01/28/2013
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Term
____ of genome codes for proteins (30,000 genes)
 Definition
2%
Term
___new mutations over a life time but only DNA in gametes are inherited
 Definition
30
Term
3 Types of mutations
 Definition

a)SNP = 80-90% = point mutation (substation)

 

b)Frame shift = insertion/deletion

 

c)Triplet repeat
Term
4 types of single nucleotide polymorphism
 Definition

a)      Silent mutation = codon is different but codes for same AA

 

b)      Conservative missense mutation = codon makes an AA that is similar to original (no change in function)

 

c)       Nonconservative missense mutation = Codon makes an AA that is very different from original

 

d)      Nonsense mutation = stop codon was introduced
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