PCR RFLP
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10 Terms
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What does RFLP stand for
Restriction fragment length polymorphism
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How does PCR RFLP work
PCR followed by restriction enzyme digestion
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What indicates homozygous allele 1
No restriction site
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What indicates homozygous allele 2
Restriction site in both alleles
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What indicates heterozygous
Restriction site in one allele
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What disease example uses PCR RFLP
Sorsby fundus dystrophy
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What gene is mutated in Sorsby fundus dystrophy
TIMP3
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What inheritance pattern does it have
Autosomal dominant
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What are advantages of PCR RFLP
Cheap easy design common
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What are disadvantages of PCR RFLP
Time consuming limited throughput
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