The gene for - for instance or to be able to carry out...

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"The gene for . ...... has been cloned!" We often seem to hear this. Much to my relief (after working on the project for ten years!) I was finally able to utter these words myself in 1997 about the gene TSC1 which is responsible for a genetic disease, Tuberous sclerosis . What is meant by this statement? And how will it help patients? We will go into fuller detail in lecture 5 . For the moment, suffice it to say that when we have identified a mutant gene by "cloning" it, we can often immediately deduce something about its protein product's structure and make a reasonable guess as to its function (see for example the cystic fibrosis story later on). Also, we are able to look for the mutation(s) which may be present in any family with the immediate benefit of being able to detect whether unaffected members of the family are "carriers" (defined later
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Unformatted text preview: ) for instance or to be able to carry out antenatal (or even preimplantation) testing of embryos. The Human Genome Project (HGP) is a huge international effort to find out the complete DNA sequence of the human genome. The project does not stop there, the 3 billion nucleotides has to be annotated and the detailed structure of each gene has to be aligned to the genomic sequence. The entire DNA sequence of the human genome is scheduled for completion in 2004 and already useful information is starting to be generated. In the next few years more and more "disease" genes are going to be identified based on HGP data. In 1997, the identification both of genes responsible for many cases of breast cancer and the Tuberous sclerosis gene mentioned above were directly aided by the DNA sequence data of the HGP....
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This note was uploaded on 11/22/2011 for the course CHEMISTRY CHM1025 taught by Professor Laurachoudry during the Fall '10 term at Broward College.

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