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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG, CALL :
From: Carlo Gambacorti <GAMBACORTI@icil64.cilea.it>
Date: Thu, 6 Jul 1995 09:22:15 MET-DST

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 4 submessage(s):

1)   cryptorchidism

2)   autosomal dominant exudative vitreoretinopathy

3)   genomic instability/microsatellite loci in position 6q27

4)   Molecular Genetics QA programs

  Carlo Gambacorti MD, Editor,
  Human Molecular Genetics network
  Diagnostics/Clinical Research Section


What is the latest information on the molecular aspects of inguinal
hernia and/or cryptorchidism in humans/mice? Brad

Brad A Didion <t80bad1@CORN.CSO.NIU.EDU>


        The gene for autosomal dominant exudative vitreoretinopathy (AKA
Criswick-Schepens syndrome) has been mapped, but a linkage study in one
family we have studied shows no linkage to the previously assigned
location, and weak evidence suggesting linkage on a different chromosome.
This suggests genetic heterogeneity.  We are looking for other families to
test this.

Chris Friedrich, M.D., Ph.D.                    Voice   (410) 614-2521
Lipid Research-Atherosclerosis Unit             Fax     (410) 955-1276
Dept. of Pediatrics, CMSC 6-104         Voice mail      (410) 614-1030
Johns Hopkins University School of Medicine
600 North Wolfe Street
Baltimore, MD 21287


Dear collegues,
i'm studying genomic instability in human tumors.
I need a list of microsatellite loci in position 6q27, with related PCR
oligonucleotide sequences and amplifi=ed product sizes.
Could anybody help me ?

                Best Regards & thanks in advance

                        Alberto Cominelli
                        Agip S.P.A Via Emilia 1, S Donato Milanese (MI)
                        phone number +2-520-62948
                        e-mail: comi@crs4.it,cominelli@agip.geis.com


    Dear Colleague

    re  Molecular Genetics QA programs

    The Human Genetics Society of Australasia is establishing QA programs
    in molecular genetics for the more common molecular genetic diagnoses.
    We have a CF module being distributed to 10 laboratories on a regular
    basis and hope to have DMD, HD, and FMR-1 going within the next few

    There are a number of disorders that are handled by only one or two
    labs in Australia & NZ, and clearly it would not be feasible to
    establish QA programs for these molecular diagnoses in isolation.

    I would like to establish an informal register of what QA programs have
    been established in molecular genetics around the world. This would
    enable those developing QA modules in common disorders to share their
    experience (eg how do you address QA issues for HD alleles of
    intermediate length). It would also allow labs offering a relatively
    uncommon assay to join a QA program established overseas (eg is anyone
    out there offering a PMP22 QA module?).

    I'd be very grateful if you could let me know the following!

        1       What QA modules do you offer or know about?
        2       Who is the contact person (email or fax, please)?
        3       How much does it cost?
        4       Can labs from other countries apply to join?

    Once this data is collated, I plan distributing the list via the
    HUM-MOLGEN and MXDIAG servers.

    Thanks 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            >>>

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