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Molecular techniques: divide or share
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  1. Maureen Boxer1
  1. 1Regional Clinical Molecular Genetics Laboratory (North Thames, East), Level 5, Camelia Botnar Laboratories, Great Ormond St NHS Trust, London WC1N 3JH, UK
  1. Dr Boxer

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The second half of the 20th century was the era in which fundamental questions regarding the genetic basis of biological function were addressed. The emerging discipline of molecular genetics harnessed the newly evolving technologies and the result has been the dawning of a genetic revolution which will lead to an understanding of how genes direct biology. The application of this science to the study of human genetics has resulted in an unprecedented growth in our understanding of the basic mechanism of disease and the basis of the new clinical field of molecular medicine.

The genetic basis of an exponentially increasing number of diseases is being identified and this will have a major impact for diagnosis, prognosis, and informed management of patients. Virtually all the major clinical disciplines will find molecular diagnosis to be increasingly necessary in modern clinical management. A challenge for the pathology services in this new era is to support molecular medicine to ensure that technical innovations and novel developments can be delivered as routine service in a timely, efficient, cost–effective manner, for the benefit of the maximum number of patients.

Molecular genetic milestones

Current molecular genetic techniques have been developed, in only a few years, from basic academic research in many scientific fields. Some scientific milestones have been seminal.1,2 The 1953 paper in Nature by Watson and Crick, which correctly proposed the double stranded structure of DNA, led to an understanding of gene function in molecular terms and marks the beginning of the molecular revolution. In 1975, Nathans and Smith3 purified restriction enzymes, the ubiquitous tools of in vitro DNA manipulation. These were central to the isolation and amplification of specific DNA fragments by in vivo cloning, a technology developed from the recombinant DNA techniques of Berg in 1972.4 In 1975, the novel method of Southern …

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