Premutation

In conditions caused by trinucleotide (triplet) repeat expansions, an abnormally large allele that is not usually associated with clinical symptoms but that can expand into a full mutation when transmitted to offspring. Full mutations are associated with clinical symptoms of the condition.

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Teaching Genetics

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  • Coding sequence

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  • Companion diagnostic

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  • Copy Number Variation (CNV)

  • Cytogenetics

  • De novo mutation

  • Degree of relationship

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  • DNA

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  • FISH: fluorescence in situ hybridisation

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  • Genetics

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  • Heterozygote (Heterozygous): Carrier

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  • Incidence

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  • Locus (loci)

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  • Pedigree diagram

  • Penetrance

  • Personalised medicine

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  • Phenotype

  • Polymerase chain reaction (PCR)

  • Polymorphism

  • Premutation

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  • Second-degree relative

  • Sex chromosome

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  • Teratogen

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  • Trait

  • Transcription

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  • Trinucleotide (triplet) repeat

  • Trisomy (Trisomic)

  • X-Chromosome inactivation

  • X-linked dominant

  • X-linked recessive