Guest guest Posted October 15, 2002 Report Share Posted October 15, 2002 Torsten, Great explanation. Do you know anything about G551d? I've tried reading web material, but most of it is over my head. I heard they were trying to do something with G551d and mice and that it was working well? Re: GENE INFO> NEEDED Hi , I heard a good analogy to explain the different mutation types. Imagine a car factory. If you have a stop mutation (aka type 1 mutation), then the blueprints have never made it to the factory (the nucleus). Another name for those stop mutations is nonsense mutation. If you have a type 2 mutation (that's where the most common ones like dF508 and N1303K belong to) then a prototype is built, but since it is absolutely faulty it won't pass the quality control (within the cell this job is done by the endoplasmatic reticulum). A type 3 mutation (like G551D) is one that's basically okay, it is delivered to the show room (cell membrane), but one idiot has misplaced the key and you can't open it and start it. Type 4 (like R117H) is a model, with some minor faults ( substances aren't transported as much as necessary through the channel) Type 5 (like A554E) are mutations, where everything is okay, but the factory can't match the demand of the market. The CFTR works properly, but a premature stop signal ends the production before enough CFTR has been made. Hope this helps more than it adds to the confusion. Peace Torsten > Does anyone know what the difference is between 'nonsense' and > 'missense' gene's. I have been looking around the G551d sites and it > keeps mentioning these words? > > Thanks > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 15, 2002 Report Share Posted October 15, 2002 Torsten, Great explanation. Do you know anything about G551d? I've tried reading web material, but most of it is over my head. I heard they were trying to do something with G551d and mice and that it was working well? Re: GENE INFO> NEEDED Hi , I heard a good analogy to explain the different mutation types. Imagine a car factory. If you have a stop mutation (aka type 1 mutation), then the blueprints have never made it to the factory (the nucleus). Another name for those stop mutations is nonsense mutation. If you have a type 2 mutation (that's where the most common ones like dF508 and N1303K belong to) then a prototype is built, but since it is absolutely faulty it won't pass the quality control (within the cell this job is done by the endoplasmatic reticulum). A type 3 mutation (like G551D) is one that's basically okay, it is delivered to the show room (cell membrane), but one idiot has misplaced the key and you can't open it and start it. Type 4 (like R117H) is a model, with some minor faults ( substances aren't transported as much as necessary through the channel) Type 5 (like A554E) are mutations, where everything is okay, but the factory can't match the demand of the market. The CFTR works properly, but a premature stop signal ends the production before enough CFTR has been made. Hope this helps more than it adds to the confusion. Peace Torsten > Does anyone know what the difference is between 'nonsense' and > 'missense' gene's. I have been looking around the G551d sites and it > keeps mentioning these words? > > Thanks > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 16, 2002 Report Share Posted December 16, 2002 Congratulations Torsten and Silke. How wonderful to be having a little boy. That poor baby will be mothered to death LoL. Eilish adores babies so I bet Fiona does also. Eilish actually asked Santa for a 'breathing baby', not a doll. I bet your all excited. There are 6 years between my sister and I. (Australia) Quote Link to comment Share on other sites More sharing options...
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