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Human genetics

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THE GENOME STORY - SO FAR

What the Future Holds

What is the derivation of this word GENOME, which is the name given to current research which is, undoubtedly, the greatest research project ever undertaken.

"GENOME" is taken from two words 'GENE' and 'CHROMOSOME'. 'Gene' is the word denoting the basic unit of inheritance and 'chromosomes' are present in the nucleus of cells forming the human body. Most of the body's 100 trillion cells contain a nucleus in which there are 46 chromosomes; twenty three from each parent. Each chromosome is made up of a strand of the molecule DNA, an abbreviation for Deoxy-ribo Nucleic Acid in the famous 'double helix' formation.

From the studies now in progress, it is almost certain that great strides will be made into the realm of these diseases which, at present, no-one knows how to treat. It may be possible to eradicate inherited disorders and to determine those of us who are vulnerable to develop particular diseases. It will, perhaps, even be possible to make up treatment, specific to the individual, and to replace defective genes.

So far 1,778 'disease genes' have been identified. Newly found genes for Asthma and Alzheimer's disease may well be amongst the first medical problems to be treated by some form of gene manipulation.

Apart from the field of medicine, the research is now pointing to an increased knowledge of how the human body actually works. No-one really knows the answer to that at this time. It was initially believed, that about 100,000 genes would have to be investigated. It came as a complete surprise to learn that the number would be closer to 30,000. The precise number is not known at this time.

The Genome maps reveal a similarity between human DNA and other animals. This similarity extends even to bacteria. It has been discovered that chimpanzees have 99% similarity; dogs 85%, fruit flies 50% and yeast 20%.

Because of the relatively low number of genes involved, it is necessary to look further for the reasons for the complexities inherent in human developments. This means that we have realised that genes are not the be all and end all. This poses several probing questions. Does this mean that heredity is less important that was previously thought? The running controversy, over which exerts the greater effect, nature or nurture, has to be addressed.

The world should prepare for many years of exciting discovery.

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