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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG:
From: Carlo Gambacorti <GAMBACORTI@icil64.cilea.it>
Date: Tue, 2 May 1995 09:01:05 MET-DST


This DIAG message contains 3 submessages:

1)  Progeria case

2)  STR exon 6 DMD gene

3)  IgD myelomas - req. for collaboration

                         HUM-MOLGEN  COMPuters


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 Are there any unpublished STRs in this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
    <<<            email: gsuthers@medicine.adelaide.edu.au            >>>

Studies with human immunoglobulin D (IgD) are underway to characterize
IgD-specific receptors expressed by T lymphocytes. Given the paucity of IgD
in normal serum, we must rely on IgD myeloma sources, which are also quite
rare. We're seeking collabations with colleagues who have access to patients
with IgD myelomas or who have frozen myeloma protein (unpurified or
purified). Please contact Dr. Richard Coico, Chairman, Department of
Microbiology and Immunology, CUNY Medical School, New York. E-mail:
Richard Coico, Ph.D.
Professor and Chairman
Dept.of Micro. and Immunology
CUNY Medical School
Convent Ave. and 138th St.
New York, NY  10031

Tel: 212.650.6628
Fax: 212.650.7797

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