Molecular and Biochemical Genetics

From Iusmgenetics

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Revision as of 14:28, 12 October 2011

Contents 1 Molecular and Biochemical Genetics 1.1 Objectives 1.2 Review your fundamentals 1.3 Dominants 1.4 Achondroplasia

Molecular and Biochemical Genetics

Objectives

• Important terms:
• Important concepts:
• For individual diseases, know: clinical features, mode of inheritance, genes involved / gene defect, pathogenesis, treatment (sometimes)

Review your fundamentals

Dominants

• Dominant disease are defined as those manifested when only one allele is mutated.
  • Recall that some diseases can be both dominant and negative because of allelic heterogeneity and locus heterogeneity.
• There are multiple ways we describe a single allele causing disease:
  • Qualitative effects: the protein product gains a function.
  • Quantitative effects: the protein product is broken.
  • Combination of qualitative and quantitative.
  • Others
• It is important to understand the disease pathogenesis in order to think wisely about treatment.

Achondroplasia