Author Topic: Queen Victoria carried severe haemophilia ’Christmas disease’ gene  (Read 11922 times)

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Ilias_of_John

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Re: Queen Victoria carried severe haemophilia ’Christmas disease’ gene
« Reply #15 on: October 14, 2009, 11:59:09 PM »
Thank goodness I'm not a scientist!
 :-[

Offline Belochka

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Re: Queen Victoria carried severe haemophilia ’Christmas disease’ gene
« Reply #16 on: October 15, 2009, 01:13:54 AM »
Thank goodness I'm not a scientist!
 :-[

Neither is Mr Kendrick.  ;)

John why don't you express your specific concerns directly to Evgenii Rogaev at UMass?

Margarita


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Ilias_of_John

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Re: Queen Victoria carried severe haemophilia ’Christmas disease’ gene
« Reply #17 on: October 15, 2009, 01:52:34 AM »
I dont have any particular concerns, just curious!

J_Kendrick

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Re: Queen Victoria carried severe haemophilia ’Christmas disease’ gene
« Reply #18 on: October 15, 2009, 06:33:32 PM »
Thank goodness I'm not a scientist!
 :-[

Neither is Mr Kendrick.  ;)

John why don't you express your specific concerns directly to Evgenii Rogaev at UMass?

Margarita


It doesn't take a scientist to understand that if this one single nucleotide substitution is "upstream" of an F9 exon... then it could be in an intron... which could also mean that it's nothing.

From Rogaev's abstract: "The mutation occurs in F9... and is *predicted* to alter RNA splicing and lead to production of a truncated form of Factor IX."

From GenomeWeb: "The researchers concluded that the mutation creates a premature stop codon in the F9 gene... that *suggests* Alexei had a form of hemophilia called Hemophilia B."

The use of the words "predicted" and "suggests" now make it quite clear that this is not a certainty.  It is, in fact, only an assumption... because, after all of their searching, this is the only possibility they could find on either the F8 or F9 gene.  It actually still needs to be confirmed as the cause... before it can be said to be fact.

Nor can it now be extrapolated backwards to assume that Queen Victoria had also carried this same single nucleotide substitution... as the subject line of this thread now suggests.  You cannot now say that for a fact, unless you now also exhume Victoria and test her for the presence of that very same nucleotide substitution... just as GD George had been exhumed to test for the presence of that C/T heteroplasmy that was found in Nicholas.

Everything that is now being claimed about this one single F9 nucleotide substitution is merely an assumption, and nothing more... based solely on the fact that this one single nucleotide substitution is the only thing that they could find on either the F8 or F9 gene.  They have merely assumed that it must be the cause of the problem, simply because they have failed to find anything else.

The conclusion that they are now assuming does not necessarily follow without definite confirmation... which they do not now have.

If, for example, Prince Philip and his daughter Princess Anne or Lord Louis's daughters Patricia and Pamela Mountbatten can now also be found to have this very same F9 nucleotide substitution... then the discovery of this one lonely nucleotide substitution "upstream" of a Factor IX exon actually means nothing at all... because the disease does not exist in that matrilineal branch of the family.

JK
« Last Edit: October 15, 2009, 06:40:59 PM by J_Kendrick »

Offline grandduchessella

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Re: Queen Victoria carried severe haemophilia ’Christmas disease’ gene
« Reply #19 on: October 15, 2009, 09:26:12 PM »
Very curious!

I don't know that it's that curious.

Alice (carrier)--Irene (carrier)--no daughters to be carriers, both hemophiliac sons die without issue
Alice (carrier)--Alix (carrier)--no descendants
Leopold--Alice (carrier)--Rupert dies without issue
Leopold--Alice (carrier)--May, no proof that she was a carrier
Beatrice--Ena (carrier)--none of her hemophiliac sons produce issue
Beatrice--Ena (carrier)--neither of her daughters appear to have been carriers
Beatrice--Leopold dies without issue

It would seem that the only chances of it carrying on would have had to come from Alice Athlone's daughter and Ena's daughter, so there was a pretty good chance that it would die out. The chances would have been greater had perhaps Irene had daughters or Alix's survived. There just weren't that many female descendants to chance carrying on the illness.
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Sarai_Porretta

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Re: Queen Victoria carried severe haemophilia ’Christmas disease’ gene
« Reply #20 on: October 16, 2009, 07:43:04 AM »
Quote
It doesn't take a scientist to understand that if this one single nucleotide substitution is "upstream" of an F9 exon... then it could be in an intron... which could also mean that it's nothing.


Uh, yeah...it does. Lol.

J_Kendrick

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Re: Queen Victoria carried severe haemophilia ’Christmas disease’ gene
« Reply #21 on: October 17, 2009, 01:42:26 AM »
Quote
It doesn't take a scientist to understand that if this one single nucleotide substitution is "upstream" of an F9 exon... then it could be in an intron... which could also mean that it's nothing.


Uh, yeah...it does. Lol.

Uh, No. It doesn't... It's basic genetics...

Exon: The region of a gene that contains the code for producing protein. Each exon codes for a specific portion of the complete protein. Exons are separated by introns, long regions of DNA that have no apparent function. Exons are also called coding DNA.

Intron: A segment of a gene situated between exons that is removed before translation of messenger RNA and does not function in coding for protein synthesis.

« Last Edit: October 17, 2009, 01:59:13 AM by J_Kendrick »

Herb

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Re: Queen Victoria carried severe haemophilia ’Christmas disease’ gene
« Reply #22 on: November 11, 2009, 04:07:03 PM »
What an interesting topic!

I don’t know a lot about the study in question, but, as someone with a background in genetics, here are my thoughts.

It’s not quite true that introns ‘have no apparent function’. For example, they contain sequences necessary for correct splicing of the RNA. The mutation in this case, as I understand it, affects splicing, and has an effect on the protein produced.
 
As for the association of this mutation with hemophilia, it seems that the group searched a hemophilia database and found three people with hemophilia B who have this very mutation.

I think, when reading scientific text, you have to be aware of the very cautious language used by scientists. Words like ‘suggest’ are used all the time. As a scientist, you are trained never to say that your results prove anything – all you can say is that they suggest x, y or z. That doesn’t mean that unfounded assumptions are being made – quite the opposite – a conclusion is being reached based on the evidence.

What I take from this work is that they have located the mutation causing ‘royal’ hemophilia, and that Alexandra, Alexei and one of the daughters had the mutant allele. I agree with those who think Maria is more likely than Anastasia to be the daughter with the mutant allele, on the basis of the way she bled on the operating table – but I think we have to await further evidence before coming to any firm conclusion on this.