home   genetic news   bioinformatics   biotechnology   literature   journals   ethics   positions   events   sitemap
 
  HUM-MOLGEN -> mail archive   |   Search register for news alert (free)  
  Carlo Gambacorti: DIAG:  
   

archive of HUM-MOLGEN mails

 
 

[Author Prev][Author Next][Thread Prev][Thread Next][Author Index][Topic Index]

To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG:
From: Carlo Gambacorti <GAMBACORTI@icil64.cilea.it>
Date: Fri, 28 Apr 1995 17:18:52 MET-DST

Note from the DIAGNOSTIC/CLINICAL RESEARCH editor:

This DIAG message contains  submessages:

1)  Progeria case

2)  STR exon 6 DMD gene





************************************************************************
                         HUM-MOLGEN  COMPuters
************************************************************************



Hello,

I'm sorry for the annoyance.

One case of Progeria (Hutchinson-Gilford syndrome) was diagnosed in
Matanzas, Cuba. There is familiar consanguinity, suggesting autosomal
recessive inheritance.

I need information about another case, treatment assays.

Would you please send information at  dpemt@infomed.cu
Any information will be appreciate it.

Reported by
Dra. Elsa Luna Caballos
Clinical Geneticist.
Genetics Department of Matanzas, Cuba.
Phon: 3371
E-mail: dpemt@infomed.cu


******************************************************************

    Dear Colleagues,

    I am involved in counselling two families re DMD.In each case the sole
    affected male has an exon 6 deletion and the two mothers have normal CK
    values. We would like to clarify the mothers' carrier status using
    molecular means but we are limited by the lack of short tandem repeats
    close to exon 6 i.e. we cannot determine whether the mothers are
    hemizygous at that point in the DMD gene.

    Can anyone offer some help? Are there any unpublished STRs in this
    region of the DMD gene?

    Thanking you in anticipation,


    Yours sincerely,

    Graeme Suthers
    ----------------------------------------------------------------------
    Dr Graeme Suthers                  tel   (int)-61-8-204 7375
    Department of Medical Genetics     fax   (int)-61-8-204 6088
    Women's & Children's Hospital
    North Adelaide
    SA 5006
    AUSTRALIA
    ----------------------------------------------------------------------
    <<<            email: gsuthers@medicine.adelaide.edu.au            >>>
    ----------------------------------------------------------------------


   
 
home   genetic news   bioinformatics   biotechnology   literature   journals   ethics   positions   events   sitemap
 
 
 

Mail converted by MHonArc 2.4.4
WWW: Kai Garlipp, Frank S. Zollmann.
7.0 1995-2001 HUM-MOLGEN. All rights reserved. Liability and Copyright.