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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG: 2 messages
From: Carlo Gambacorti <GAMBACORTI@ICIL64.CILEA.IT>
Date: Mon, 3 Jun 1996 11:00:35 +0000

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 2 submessage(s):

1)     X-linked hypophosphataemic rickets
       X-linked (Xp) Spondyloepiphyseal dyspalsia tarda (SEDL)

2)     Retinoblastoma, FAP, HNPCC: molecular diagnostics

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

Dear Sir/Madam,

We have recently cloned the gene for X-linked hypophosphataemic
rickets (HYP; HYP consortium, Nature genetics PEX gene). I am now
actively devising experiments at elucidating gene function. I write to
ask whether there are clinicians/investigators who have patients with
oncogenic hypophosphataemic osteomalacia (OHO), or related phosphaturic
factor releasing tumours (Linear sebaceous naevus syndrome, fibrous
dysplasia of bone, neurofibromatosis, oat cell carcinoma). These
tumours are very rare, and may well provide the key to unravelling
the putative substrate activated on by PEX. They tend to be
haemangiopericytomas of mesenchymal origin, and produce factor(s)
resulting in a renal phosphate leak, and inappropriate depression
of 1,25 Vit levels, osteomalacia and consequent hypophospahtaemia.

I would be most interested in:

1.Tumour tissue.
2. blood before and after removal of tumour.

In addition any blood/DNA samples from patients with  familial
X-linked rickets would also be appreciated.

X-linked (Xp) Spondyloepiphyseal dyspalsia tarda (SEDL):

I am also collecting families with SEDL, with the ultimate aim of
mapping and cloning this gene (just distal to HYP). Blood
and /or DNA from such families would be most welcome.

Thank you for your help.

Peter S.N. Rowe,
Senior Lecturer/ Senior MRC Research Fellow,
University College London,
Department of Medicine,
Middlesex Hospital,
Mortimer Street,
United Kingdom

Tel: 0171-636-8333 xt 3257 or 3261
Fax: 0171-636-3151
e-mail: reha444@ucl.ac.uk


We are students of Gdansk University Faculty of Biotechnology in Poland. One of
the fields in which our department is engaged is molecular diagnostics. We are
interested in particular in molecular diagnostics of hereditary neoplastic
diseases, this still being in its fairly early stages in Gdansk, and such
information might constitute an auxiliary tool for doctors in screening tests.

Is there anyone who could supply us with information on the subject of
mutations in the RB gene responsible for the forming of retinoblastomy. We are
also interested in mutations in the APC (adenomatous polyposis coli) gene
responsible for the forming of FAP (familial adenomatous polyposis), as well as
mutations in genes hMSH2, hPMS1, hPMS2, hMLH1 responsible for HNPCC (hereditary
non-polyposis colorectal cancer).

We would also greatly appreciate information on the subject of the diagnostic
methods in the cases of these diseases.

Our respects,

Magdalena Skwarek
Arkadiusz Piotrowski
Magdalena Skwarek
Arkadiusz Piotrowski
Faculty of Biotechnology
University of Gdansk
ul. Kladki 24
80-822 Gdansk

phone/fax: +48 58 312807
e-mail: arpiotr@farmacja.amg.gda.pl

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