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Interested in finding out more about mutation

  1. May 2, 2004 #1
    I am interested in finding out more about mutation but so far I havent found much on the topic....

    What would be a place to start if you are only familiar with the basics of DNA replication... translation.. transcription...

    I dont know much on the subject... thanks.

    News reguarding mutation would also be cool, so far I have only found an article on google news that interests me:

    http://www.webindia123.com/news/showdetails.asp?id=36643&cat=Health
     
  2. jcsd
  3. May 2, 2004 #2

    iansmith

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  4. May 3, 2004 #3
    Ok thanks I'll check them out.
     
  5. May 5, 2004 #4
    Umm I was wondering what the most common mutations are in todays new borns?

    Another Question:

    Are we actually able to reverse certain types of mutations at this moment with the current technology we have?
     
    Last edited: May 5, 2004
  6. May 6, 2004 #5

    iansmith

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    There no study for that but my guess is that most are either coming from the parents gametes or an external mutagenic source migth. I doubt recplication errors occurs often in the baby.

    There migth be photoreactivation for mutation cause by U.V. or agent that cause pyrimidine dimer. Not much study has been done on this and it would only work on the skin. The only other possible techniques would be genetic engineering which would replace the whole gene or complement cells
     
  7. May 7, 2004 #6
    Umm I see so I guess.. that would be a no to my second question... which is what I thought.

    For my first question.. I should have asked.. What is a well known decease caused by mutation?.. sickle cell anemia?
     
  8. May 7, 2004 #7

    iansmith

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    You got sickle cell, tay-sach, cystic fibrosis, some forms of juvenile diatbetes, and the list goes on.
     
  9. May 7, 2004 #8

    Moonbear

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    Actually, sickle cell isn't a mutation, at least not a recent one. I don't think tay-sach is either. I would need to check on cystic fibrosis and type I diabetes. They are recessive traits present in the human genome. At least in the case of sickle cell, the heterozygotes are healthy, actually have a better resistance to malaria, which provides a beneficial selection pressure to preserve that allele in the genome (more heterozygotes survive a malaria epidemic than those without that allele...at least in the days before modern medicine). It's those who inherit the sickle cell allele from both parents and are homozygous that are ill.

    It's hard to know what the common mutations are in newborns. A lot of mutations can have no detectable phenotype (doesn't necessarily mean they don't do anything, just we don't know what it is and don't look for it, but some mutations are silent). My guess is those might be the most common. Many other mutations are embryonically lethal (affect development, so a miscarriage would occur), so those don't affect newborns because they never develop far enough to be born alive. However, the few that result in obvious birth defects are probably the ones that get most attention. I don't know if there are any that are commonly occurring. Theoretically, mutations would be random, so none should occur more often than others, but there may be some genes more susceptible to mutation due to their location on the chromosomes???
     
  10. May 7, 2004 #9

    Monique

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    A mutation is when DNA is changed in such a way that the genetic message carried by the gene is changed. Since sickle cell anemia is the condition where the HbS gene is altered and causes sickled hemoglobin to be produced, so yes, it would be a mutation. Only when the prevalence of the mutation reaches sufficient high levels is a population, would it be described as a trait.

    I think that Moonbear is thinking about de-novo mutations, which are generated new and not passed on from a previous generation? If you like to know some diseases which arise from that, you'd have to look at ones where patients do not reach the age of reproduction or where they are unable to reproduce.
     
  11. May 7, 2004 #10

    Monique

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    That entirely depends on the population you are looking at. Disease frequencies are different for populations with different histories. For instance, in malaria-infested populations, sickle cell anemia would probably be the most prevalent trait/mutation-caused disease you'd see.

    Yes, gene therapy would be the example with the model disease of SCID (severe combined immune deficiency). The disease is caused due to adenosine deaminase deficiency, the gene can be put back into a patient's cells with the use of virusses.
     
  12. May 7, 2004 #11

    iansmith

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    http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997 Case Studies/S. Bergeron.html



    http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/M/Mutations.html

    http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.137

    http://www.ncbi.nlm.nih.gov:80/entr...ve&db=pubmed&dopt=Abstract&list_uids=15024729

    http://www.ncbi.nlm.nih.gov:80/entr...ve&db=pubmed&dopt=Abstract&list_uids=10872477


    http://www.ncbi.nlm.nih.gov:80/entr...ve&db=pubmed&dopt=Abstract&list_uids=14727180
     
  13. May 7, 2004 #12

    Monique

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    Actually OMIM (Online Mendelian Inheritance in Man) would be the place to look up this kind of information http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM it used to be strictly about mendelian inheritance, but not it is mostly a collection of all genetic diseases known.
     
  14. May 8, 2004 #13
    Ok thanks I'll check it out guys and get back at you with more questions if I have any =-P
     
  15. May 8, 2004 #14
    sickle cell anemia .. heh is it a severe condition.. what exactly does it do?
     
  16. May 9, 2004 #15

    iansmith

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  17. May 9, 2004 #16
    so apparently.. sickle cell anemia is not something I would use to explain DNA replication, transcription and translation .. since it is an inherited disease.. and not a "real" mutation... what would be the next best thing to explain dna replication... protein synthesis that IS a mutation =-/.
     
    Last edited: May 9, 2004
  18. May 9, 2004 #17

    iansmith

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    Sickle cell anemia is a "real" mutation, but it occurs several hundreds years ago. It was select for in certain population because it had a certain benefit. That is why it is inherited. You DNA is migth have mutation and migth be pass on to your offspring.

    The best example to explain mutation that are not inherited in an indvidual would be cancer.
     
  19. May 9, 2004 #18
    WHat about doing it with an unknown mutation
     
  20. May 10, 2004 #19

    iansmith

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    What do you mean by doing it with an unknown mutation?
     
  21. May 10, 2004 #20

    Monique

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    I think he means a de novo mutation, a mutation that was introduced in the gamete. The disease phenotype could be anything really, it all depends in what gene the mutation occured. It would have to be a dominant trait though, since only one allele is affected (assuming no mutation was present in the other allele).

    You could use sickle cell anemia though, but explain that the mutation occured a long time ago (it probably is known how long) and you could explain how that mutation also proved beneficial and stayed in the population.
     
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