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Learning Activity - Copy of Copy of 07 Molecular Testing
TypeLecture
ModuleLINMED - Copy of Lincoln Medicine 1 (Copy of Copy of 07 Genes and Early Embryology)
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List the common types of mutation seen in clinical practice and be able to give a brief explanation of each nonsense, missense, frameshift, triplet repeats.

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Compare their possible effects eg gain, loss or partial loss of function mutations.

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Describe the concept of allele and locus heterogeneity.

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Outline the common forms of mutation analysis employed in the laboratory.

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Compare linkage/gene tracking and mutation analysis and give examples of their use in a clinical setting.

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Interpret simple molecular genetic results and briefly outline the accuracy and residual risks associated with different types of test.

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