500 known mutations cystic fibrosis transmembrane

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500 known mutations Cystic Fibrosis Transmembrane conductance Regulator (CFTR) Lung, intestine, pancrese become clogged with thick mucus common lethal autosomal recessive disorder Europeans and descendents 1 every 2,500 live births 1 in 25 carrier frequency In UK, 4 account for 81% mutations
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Sickle-Cell Anemia Single nucleotide change on the b -globin gene glutamic acid to valine (E6V) Hb distorted, unable to carry sufficient oxygen Sickle shaped red blood cells homozygote S/S, heterozygote A/S anemia, progressive damages to the heart, lungs, brain, joints, etc. black Africans, descendents, and Hispanic populations
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Sickle-cell Anemia Gene Detection at the DNA Level
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Genotyping with Fluorescence-labeled PCR Primers one primer, P1, perfect match 5’ end labeled with rhodamine (red) one primer, P1’, matched with mutant 5’ end labeled with fluorescein (green) third primer, P2 Paired with either one genotyping wild-type: red heterozygous: yellow 2 copies of mutant genes: green automated, adapted for any single nucleotide polymorphism (SNP)
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Detection of a single-base mutation with fluorescence-labeled PCR primers
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  • Fall '08
  • staff
  • molecular biology, DNA, DNA analysis, DNA Diagnostic Probes, DNA Diagnostic Systems, Bind single-stranded DNA

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