Down to the wire for the NF gene

Article Abstract:

Two individual research groups have identified a remarkable gene on chromosome 17 which seems to be the gene for the genetic disorder neurofibromatosis (NF), which is characterized by various tumors and growths. The story is scientifically interesting, and socially interesting as well, as the two laboratories started out as collaborators and ended up in a heated race for the glory of discovery. The search for the neurofibromatosis gene had previously yielded numerous false starts; promising genes were identified and rigorously studied, only to discover they were not the genes of interest. Many of these genes turned out to be inside the neurofibromatosis gene. One scientist likens it to evaluating many different fish before finding out that the rock you're sitting on is a whale. The neurofibromatosis gene turns out to be quite large, perhaps from 500,000 to 2 million DNA base pairs. But what is especially interesting, and what provided so many false leads for scientists, is that the neurofibromatosis gene contains other complete genes within its introns. Many genes are processed rather than directly coding for a protein structure. Some pieces are cut out of the RNA transcribed from the gene, and only some pieces make it into the final messenger RNA which makes the protein. The gene fragments which end up a part of the mRNA are called exons and the intervening fragments which are sliced out are called introns. So far, only the Factor VIII hemophilia gene has been shown to have such an arrangement. This large neurofibromatosis gene is exciting to scientists, who believe that lots of interesting things must be going on within it. The gene was identified in a down-to-the-wire race between two laboratories, but there now seems to be room for plenty of laboratories to take a crack at figuring out what is happening with this gene. One suggestion is that the gene is a tumor suppressor gene, and NF is activated when the gene is inactivated by a mutation. Studying this process could aid in understanding unrestrained cell growth in other diseases, such as cancer. (Consumer Summary produced by Reliance Medical Information, Inc.)

Genetic aspects, Human genetics, Genetic disorders, Neurofibromatosis, Heredity, Human, Human heredity, Linkage (Genetics), editorial

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New game plan for genome mapping

Article Abstract:

The human genome, the set of chromosomes, is composed of deoxyribose nucleic acid (DNA), which is an elaborate code for building the molecules that are involved in the processes of life. Scientists throughout the country are working together to sequence (get the order of the DNA molecules) and to map (find the location of a sequence compared to other sequences) the DNA of humans. A new proposal has been presented that could change the efforts to map the human genome and eliminate some of the existing problems. A new technical procedure, the polymerase chain reaction allows amplification of a very small amount of DNA, so that there is enough DNA that can be studied. This will allow identification and relative location of sequence-tagged sites (STS), short sequences of DNA segments that are found in the genome only once. Other DNA samples can be tested to see if they contain the STS. The mapping of the genome can be accomplished by comparing and overlapping DNA samples that contain the STS but also different DNA. These STS sequences can be used in different laboratories as a common language or tool to sequence and map DNA from various sources. Using these STS, inconsistencies from different laboratories will be reduced. Individual labs can make STS in their own laboratories, which eliminates problems of exchanging DNA. There are already 2,000 to 3,000 DNA sequences for which an approximate location in the genome is known, which can be used as STS. The use of STS will allow investigators from smaller laboratories to contribute their sequence to the project as well as from large laboratories. Using STS, investigators estimate the project will take three years instead of the proposed five years, and that the cost will be approximately $10 million.

DNA

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A common language for physical mapping of the human genome

Article Abstract:

The human genome is composed of deoxyribose nucleic acid (DNA), which contains the codes for the production of molecules that are involved in the processes of life. Scientists throughout the country are working together to sequence (identify the order of the DNA molecules) and to map (find the location of a sequence relative to other sequences) the DNA of humans. New technical advances have solved some of the problems anticipated by the National Research Council. The polymerase chain reaction (PCR) is a new procedure that can amplify a very small amount of DNA, so that there is enough DNA available for examination. This allows identification of small and unique sequences and locations of DNA. Using the PCR, sequence-tagged sites (STS) can be made from DNA sequences that are present in the genome (the set of human chromosomes) only once. Other DNA samples can be tested to see if they contain the STS. The mapping of the genome can occur using the STS, by comparing and overlapping DNA samples that contain the STS but also different DNA. There are already 2,000 to 3,000 DNA sequences for which an approximate location in the genome is known. These can be used as STS. These STS sequences can be used in different laboratories as a common language or tool to sequence and map DNA from various sources. Using these STS, inconsistencies from different laboratories will be reduced and the joint gene mapping project will be completed faster, within the proposed five-year goal.

Standards, DNA sequencers

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