Breaking the rule of three: human genetics

Article Abstract:

Unstable expansions of trinucleotide repeats have been found to cause at least 12 human genetic diseases since 1991. Trinucleotide repeats linked to diseases become unstable above around 35-50 repeats, and the length corresponds with the age of onset of the disease. Class 1 diseases are due to huge gene expansions, with Class 2 diseases due to moderate expansion of CAG repeats. A GAA expansion has been discovered in Friedreich's ataxia, an autosomal recessive disease, and new studies have also looked into the Unverricht-Lundborg type of progressive myoclonus epilepsy. These studies indicate that repeat units longer than three nucleotides are involved.

Research, Genetic disorders

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Biochemistry and genetics: checks and balances

Article Abstract:

Recombinant DNA technology overcomes the limitations inherent in biochemical and genetic molecular elucidation of biological processes by judiciously combining their advantages using molecular-biological tools. The biochemical method involves development of assays and reconstitution of the biological processes in test tubes. However, it represents an oversimplification and is unable to distinguish between real and artefact. The genetic method involves mutations, but suffers from the inability to segregate direct from the indirect effects.

Evaluation, Biochemistry, Recombinant DNA, Genetic transcription, Transcription (Genetics)

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