popa0206 at PO-Box.McGill.CA
Mon Sep 11 17:59:29 EST 1995
> Neil Worthington 102705,2475 <102705.2475 at CompuServe.COM> writes:
> I am trying to find information on "puppet children" which is
> refered to as Angelmans syndrome.
If I am not mistaken Anglemans syndrome (AS) and the reciprocal disease Prader-Willi syndrome(PWS)
are disease that share a common characteristic of being imprinted. Imprinting means the espression
of the phenotype is "gamete sex dependent". This means that the sex of the parent determines
(usually) if the disease occurs or is "manifest". In this case whether it is Prader-Willi or Anglemans
syndrome. I believe the gene(s) involved are on chromsome 15 in man the q arm (short) (15q11-q13).
The region commonly deleted between the two syndromes is associated with the small nuclear
ribonucleoprotein N (SNRPN). Abberant methylation of this region is also associated with the disease
and hence further evidence (or support might be better) for imprinting being involved in this disorder.
Often the the karotype of individuals with these syndromes reveals duplications and inversions in this
arm of chm 15. Usually people with (PWS) lack paternal copy of this region (or this region is abberant in
the paternal allele) and the maternal copy is missing or abberant in (AS).
Hope this helps
Graham Dellaire Snail Mail:
Red Cross, Research
McGill University Montreal Blood Services
Faculty of Medicine 3131 Sherbrooke St. East
Div. of Experimental Medicine Montreal, QC, Canada
E-mail: popa0206 at po-box.mcgill.ca H1W 1B2
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