Genetic disorders Flashcards
1
Q
What are the types of simple mutation?
A
Transitions: pyrimidine-pyrimidine and purine-purine
Transversions: pyrimidine-purine and purine-pyrimidine
Insertions and deletions: nucleotide or small number of molecules
1
Q
Genetic polymorphism
A
Different alleles for a gene within a population
Doesn’t necessarily alter protein activity
There are natural differences in amino acids between individuals
2
Q
A
3
Q
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4
Q
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5
Q
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6
Q
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7
Q
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8
Q
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9
Q
What are inherited vs sporadic mutations?
A
Inherited: mutations present in germ line and somatic cells of one of the parents. Passed to offspring
Sporadic: De novo mutations that occur in germ line of a parent or newly fertilised egg. Neither parents has the mutation
10
Q
A
