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  Carlo Gambacorti: DIAG : 5 messages + policy on human specimens requests  

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG : 5 messages + policy on human specimens requests
From: Carlo Gambacorti <GAMBACORTI@icil64.cilea.it>
Date: Tue, 18 Jul 1995 10:26:40 MET-DST

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 6 submessage(s):

1)   blue rubber bleb nevus (Bean) syndrome

2)   ovarian tumours and cytogenetic tecniques

3)   Down syndrome on the net

4)   Ectopia Lentis

5)   Genomic Reagents Resource


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


We have genetic linkage for a family that we feel has blue rubber bleb nevus (Be
an) syndrome and are searching for other families to confirm this result. We are
 hoping to locate clinical associates who would be willing to ascertain and draw
 bloods from their families.   We would  check the linkage here in my lab. This
would be on a collaborative basis, with joint authorship on  any paper resulting
 from this work.     Our large family shows a lod  score of over 9.0 with the mo
st closely linked marker.   Thus we are confident of the linkage but would like
to look at more families with a similar clinical phenotype.   Please call  Doug
Marchuk, Dept of Genetics Duke University, Durham, NC 27710   phone  919 684-329
0    fax   919 684-2790, E-MAIL march004@mc.duke.edu


Dear collegues,
we are studyng ovarian tumours with cytogenetic tecniques,
and FISH with painting, yacs and cosmids probes.
We are very interested in detailed protocols of PRINS using yacs
and cosmids to get primers.
In particular we would know the crucial steps of this procedure
and the strategical approach in the choice of primers.

                    best regards & thanks in advance

                        Alberto Cominelli
                        Agip S.P.A Via Emilia 1, S Donato
Milanese (MI)
                        phone number +2-520-62948


     Does anyone know where I can find information about Down
Syndrome on the Net?  Thanks. Denise


I'm interested in finding out which labs are currently performing
biochemical or molecular studies of fibrillin on patients with
ectopia lentis without any systemic involvement. We are currently
following several families with this disorder.

Anna Newlin, MS
Genetic Counselor
Univ. of Illinois Eye and Ear Infirmary


The laboratories of Dr. Julie R. Korenberg at Cedars-Sinai
Medical Center are
pleased to announce the availability of our Genomic Reagents
Resource: an
integrated database of artificial chromosomes for use in
cytogenetic studies. A discussion of the resource and database,
transfer agreement, and GIF illustrations of the genome-wide
distribution of
the probes can be found at our Web site:


Follow the link to the "Integrated YAC/BAC/PAC Resource".



     A debate has been ongoing among HMG editors on how to
process requests for specimens (blood, DNA, cells.....)
from patients/donors, posted on HMG. This problem stems from the
global and innovative nature of HMG.   While the debate is
continuing, this editor thinks it is necessary to observe a
minimal standard regarding the issues of study approval and
protection against identification (of a certain individual
through the specimen obtained).
     Therefore this editor assumes that any request for human
specimens, 1) originates from studies with at least an IRB
approval, 2) the samples will be effectively protected
against identification of the patient/donor, and 3) the IRB
approval contemplates the possibility of soliciting and obtaining
samples from institutions other that the home institution and
from other countries. Alternatively, the message should state
that samples can be sent only from a restricted number of
countries. Regarding the human specimens being sent/received, HMG
implies that: "Appropriate consent was obtained, for use of this
material, and it should be understood that information about this
sample will be stored in a database without identification of the
individual from whom they were derived." (This sentence was
supplied by Jeanne C. Beck, NIGMS Human Genetic Mutant Cell
Repository in conjunction with NIH).
     It is the responsibility of the individual sending the
request, to verify that the above mentioned requirements are met;
the mailing of the request to HMG implies acceptance of these

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


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