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2851linkage analysis

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  • Maurizio
    Apr 1, 2006
      Linkage analysis

      As most of you will know we do not yet have a confirmed diagnosis
      for Regan & Marconi, Marconi had his blood sent off to a lab in
      Germany for DNA screening, this was almost a year ago and it has
      only just came back a month ago, the results were inconclusive, now
      this by no means rules out MTM1 as we all know they are only able to
      identify 80% of mutations (although in my experience and from what I
      read in this forum it would appear that a lot more then 20% of
      mutations are unknown) also in Marconi's case they did not have
      enough blood to extract the required amount of DNA so they had to
      process the DNA to amplify it and this could have interfered with
      the DNA.

      We will be sending some more blood off for screening but while we
      are waiting for the results Regan will be having a muscle biopsy as
      there is a small possibility that it could be something other then
      MTM (something like Nemaline Myopathy).

      Depending on the results of Regan's muscle biopsy we will either
      have a confirmed diagnosis of MTM or refocus the investigations
      elsewhere, if the results of the biopsy show that Regan has MTM then
      we can concentrate on getting a confirmed genetic diagnosis, there
      is a process called linkage analysis that can be done if we have a
      confirmed diagnosis and there is more then one effected boy in the
      family, they basically take both boys DNA and compare them, in doing
      this they will be able to find out what mutations they have in
      common and then will be able to see which mutation causes the muscle
      disease, now we all have 100s of mutations most of which are of a
      benign nature so just looking for a mutation in its self wont tell
      them a great deal, if we are able to identify this mutation then
      others will be able to be tested for this mutation, not just other
      family members but they will also be able to look for this mutation
      in other families who do not have a genetic dianosis, now I know
      it's a long shot but its just possible that someone on this site
      could have the same mutation as us, which would mean that we are
      related although distantly.

      Now I don't know if this linkage analysis will be of any benefit to
      anyone else in this forum, but if you have more then 1 effected boy
      in the family and no genetic diagnosis then its well worth looking

      Hope you are all well

      Moz, Rachel & boys.