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  Carlo Gambacorti: DIAG: 10 messages  
   

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG: 10 messages
From: Carlo Gambacorti <GAMBACORTI@ICIL64.CILEA.IT>
Date: Thu, 22 Aug 1996 21:08:32 +0000
Date-warning: Date header was inserted by ICIL64.CILEA.IT

**************************************************************
           HUM-MOLGEN  DIAGnostics/Clinical Research
**************************************************************


This DIAG message contains  submessage(s):

1)      sterility/ 45 XY, t(10,14)

2)      nephrotic syndrome/WT1 gene

3)      follow up on  Frax Gene Therapy

4)      autosomal recessive muscular dystrophy/delta-sarcoglycan gene

5)      A-T study; req. for collaboration from Germany

6)      follicular lymphoma cell lines request

7)      congenital endothelial corneal dystrophy

8)       hereditary hemorrhagic telangiectasia

9)      carrier detection for Riley-Day Syndrome.

10)     req. For information on molecular diagnostic lab from Brazil



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


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

Hi
     My name is Rita and I work for a cytogenetics lab in Nice, France.
     Recently, we came across a rather puzzling case:
    We performed a blood karyotype for a male presenting sterility
(oligoasthenospermia),
    and it came out: 45 XY, t(10,14), where there seems to be a fusion
between the two
    chromosomes, 10qter-14cen.
    C- banding revealed the presence of both centromeres on the translocated
chromosome,
   and there is no noticeable loss of genetic material apart from the short
arms of the 14.
   We haven't found any reference to such a translocation in the available
literature, and we will
   gladly welcome any information regarding this condition, phenotype and
bibliographic references.
   Thank you
---------------------------------------------------------------------------
Rita Attias
Service de Cytogenetique/LABS
Nice-France
E-Mail: ramat@imaginet.fr
--------------------------------------------------------------------------


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

We are investigating the molecular basis of congenital
nephrotic syndrome.  Specifically, we are testing the
possibility that mutations of the Wilms tumor (WT1) gene
are responsible for at least a subset of diffuse
mesangial sclerosis.  Ethical approval has been obtained
for this  project.We require DNA, blood, or post-mortem
tissue from patients with DMS.  If you can help please
contact me at the above email address or by FAX
44-171-916-0011, or by 'phone 44-171-242-9789 x 2635
Many thanks

Dr. Ania Koziell
------------------------------------------------------------
Server protocol: HTTP/1.0
Remote host: iron.hgmp.mrc.ac.uk
Remote IP address: 193.62.192.26

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

Dear Carlo,

Your posting about fragile X seems to have stimulated further activity!

Teresa


---------- Forwarded message ----------
Date: Mon, 5 Aug 1996 14:20:49 +0000
From: FRAXA Research Foundation <fraxa@seacoast.com>
To: Teresa Binstock <Teresa.Binstock@UCHSC.edu>
Subject: Re: Frax Gene Therapy Inquiry

Teresa,
Thanks so much for including us in this email!  We've been in touch
with Dr. Paribello, and we're passing on some info about Dr.
Samulski's research on this topic.  We just got an update on the
work; the team has developed a vector with AAV and FMR1!  I'll give
Randi a copy of the report at the Portland conference so you'll get a
chance to see it.

Katie

IL64.CILEA.IT>
> Subject:       Frax Gene Therapy Inquiry

> The following fragile X inquiry appeared on a Human Molecular Genetics
> listserver; and I have responded to the list director as well as to
> several prominent fragile X researchers. I've deleted all but the
> fragile X section of the message.
**************************************************************


We recently cloned a novel human member of sarcoglycan family of
dystrophin-associated glycoproteins (HMG 5, 1179, 1186 (1996). This gene,
named delta-sarcoglycan, was mapped to chromosome 5q33, where autosomal
recessive limb-girdle muscular dystrophy 2F was linked. These patients have
a severe Duchenne-like phenotype, but the dystrophin is only moderately
reduced, while all the four sarcoglycans are absent. We are able to perform
the mutation screening starting from genomic DNA, since we cloned all the
exon-intron boundaries of the delta-sarcoglycan gene. Moreover, we developed
polyclonal antibodies against the 35Kda protein product.
We are interested to collaborate with groups who selected families with
severe autosomal recessive muscular dystrophy. Linkage to D5S487 or D5S1439
should be not excluded.
My Address is : Dr. Vincenzo Nigro Istituto di Patologia Generale e
Oncologia Seconda Universita degli studi di Napoli. Larghetto S. Aniello a
Caponapoli, 2. 80138 Napoli Italy
Tel+39(81)5665675  FAX+39(81)5665695 Email pp11010@na.cybernet.it


        *** ATTENTION, NO STUDY APPROVAL DATA PROVIDED ***

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


My name is Markus Stumm,
I am a biologist and I am the leader of the cytogenetic lab
in the institute of human genetics magdeburg.
Our institute is part of the university hospital Mageburg.

Dipl. Biol. Markus Stumm
Institut fuer Humangenetik
Universitaetsklinikum
Leipziger Strasse 44
39120 Magdeburg
Germany
Telephone: 0049-0391/67-15344
Telefax:   0049-0391/67-15066
E-mail: markus.stumm@medizin.uni-magdeburg.de

In our lab we are performing prenatal and postnatal routine
diagnosis.
We are offering special diagnostic for AT, AT-V, ICFS
and for patients who react hypersensitiv to irradiation (e. g.
X-ray, gamma-ray).
My main topics in science are chromosomal instability syndromes and
radiosensitivity. I have performed cell fusion studies in ICFS
(Schuffenhauer et al., Human Genet. 1995) and AT-V (NBS)(submitted).
Also, I have performed linkage analysis of AT-V patients (Stumm et
al., AJHG 1995). For further cell fusion studies (testing for
heterogeneity) and linkage analysis (are soon in progress for AT-V) it
it is necessary to collect more patients suffering from these rare
diseases. Only an optimal number of exactly diagnosed patients, can
lead to the isolation of genes responsible for these diseases. I have
good connections to other labs working in this field (e.g. the german
AT-consortium). Therefore, I you have any patients with clinical
hallmarks of AT, AT-V or ICF please contact me for cytogenetic
diagnosis. Furthermore, if you have radiosensitive tumor-patients
please contact me to create a project.
I am also interested in patients showing premature centromere
division in metaphases.



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

mgoral@bmclib2.bhs.org (Mike Goral) sent the following comments:

------------------------------------------------------------
I am looking for a source for follicular lymphoma
cell line SU-DHL-6, or any other t(14;18)(q32;q21)
follicular lymphoma cell line. Can anyone help me?
------------------------------------------------------------

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



I recently saw a baby with congenital endothelial corneal dystrophy. He is
an isolated case. The parents have been examined by the ophthalmologist and
have normal eyes. Dominant and recessive forms of this exist and the latter
are more common with an early age of onset. However, the two patterns of
inheritance cannot be reliably  distinguished in an isolated case. The
parents are very concerned about recurrence risk. Is anyone able to offer
any way to tell whether this child represents a fresh dominant mutation or
recessive inheritance? Thank you. Liz Thompson.

thompsone@WCH.SA.GOV.AU
**************************************************************

recently, a family with hereditary hemorrhagic telangiectasia (five
patients in three generations) asked for molecular analysis. Researchers
interested in DNA analysis in this families should contact Dietmar Lohmann
by e-mail (dr.lohmann@uni-essen.de), fax (+49(201)7235900) of snail mail at
the
Universitaetsklinikum Essen
Institut fuer Humangenetik
Hufelandstrasse 55
D-45122 Essen, Germany


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

Please could you tell me who, if any one is doing carrier detection
for Riley-Day Syndrome.
Many thanks.

Yours sincerely

Jacquie Greenberg PhD
Department of Human Genetics
UCT Medical school
Cape Town
South Africa
Email jg@anat.uct.ac.za


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

rsaad@einstein.br (Rogerio Saad Vaz) sent the following comments:

------------------------------------------------------------
Hospital Israelita Albert Einstein.
Blood Bank / Molecular Biology Lab.
Av. Albert Einstein 627/701 .
Morumbi  Sao Paulo - SP   Brazil
05651-901 .

Send Information about Molecular Biology (diagnostics) related to cancer and
infectious diseases transmitted by blood.
Names of Institutions and Researchers (Hospital/Institutions/Universities) .

Thanks !!

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


   
 
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