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  Carlo Gambacorti: DIAG: 6 messages/1 PT.REQ.  

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG: 6 messages/1 PT.REQ.
From: Carlo Gambacorti <GAMBACORTI@ICIL64.CILEA.IT>
Date: Tue, 12 Mar 1996 17:36:07 +0000

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 6 submessage(s):

1)      familial papillary thyroid carcinoma

2)      Screening sperm donors for cystic fibrosis

3)      CMV strains

4)      childhood cancer/pt support

5)      omphalocele/ PT. REQ.

6)      Steinbeis-Transfer Zentrum fuer Biomolekulare Medizin at the
        University of Konstanz/Germany; req. for collaborations

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

Dear Colleagues,

our group at the International Agency for Research on Cancer
(IARC) at Lyon, France is setting up a project for the
identification of predisposing gene(s) for familiar papillary
thyroid carcinoma (PTC) by linkage analyses. For this purpose we
are organizing an international consortium.
Are you currently following families with recurrence of PTC or
do you know of any colleague who might have seen such families?
For this project we are interested in blood samples or DNA from
at least two affected individuals in the same family. Upon your
answer we will send you the protocol of this study, including a
clinical questionnaire and the information for blood collection
and shipment of this and/or other biological material. Thank you
very much in advance for your cooperation.
For further information please contact:

Dr. G. Romeo
International Agency
for Research on Cancer
150, Cours Albert-Thomas
F-69372 LYON Cedex 08

Fax: +33 72738575
Tel: +33 72738512
E-mail: romeo@iarc.fr

          ***IRB Approval Applied for***

Here in WA we have a case of spinomuscular atrophy from a child born out of
donor insemination.  I've been asked to put out a call to find out various
country's and clinics' policies on screening prospective donors for CF
carrier status.  As the background is approximately 1 in 25 this would seem
a sensible precaution,
However, there seems to be little in the literature concerning this.

The following are the only references I have.  Can anyone shed light on
current protocols in donor banks?

1.      Traystman MD, Schulte NA, Macdonald M, J.R. A, Sanger WG. Mutation
analysis for cystic fibrosis to determine carrier status in 167 sperm
donors from the Nebraska genetic semen bank. Human Mutation
2.      Fugger EF, Maddalena A, Schulman JD. Results of retroactive testing
of human semen donors for cystic fibrosis and human immunodeficiency virus
by polymerase chain reaction. Hum Reprod 1993;8(9):1435-1437.
3.      Findlay I, Cuckle H, Lilford RJ, Rutherford AJ, Quirke P, Lui S.
Screening sperm donors for cystic fibrosis. British Medical Journal

Jim o~o~o~ Cummins - Associate Professor in Veterinary Anatomy
Murdoch University, Western Australia 6150
Tel +61-9-360 2668, Fax +61-9-310 4144
URL http://Numbat.murdoch.edu.au/vetbiol/images/cummins.htm


     We are interested in receiving DNA from individuals with
hyperekplexia and other startle syndromes for mutation analysis of
GLRA1. Sporadic as well as familial cases are of interest since we
have found reccessive as well as dominant cases due to mutations in
Mike Owen
Depts. of Psychological Medicine and Medical Genetics,
University of Wales College of Medicine,
Heath Park,
Cardiff CF4 4XN,
Tel. 44 1222 743248
Fax. 44 1222 747839
email wpcmjo@cardiff.ac.uk

***Attention: at present no IRB approval for obtaining samples
              from outside the UK.

I realise that this may not be the best place to ask, and I apologise and
would appreciate being pointed to other contacts, but meanwhile would like
any info/suggestions regarding facilities for determining CMV strains.
We have seen 4 cases of CMV retinitis (3 kids, 1 adult) recently in our
renal transplant patients. We have had many tpts from CMV+ donors to CMV+
recipients in the past and have not had such problems. Furthermore, the
extent of retinitis appears out of proportion to the systemic involvement
in these patients. We wonder if all 4 patients have some CMV strain that
preferentially attacks the retina. We do not have facilities for
determining CMV strain in Singapore and would appreciate any
help/advice/information. We do have facilities for PCR but are not aware of
strain-specific primers that would help us.
Thank you in advance

Agnes Tay <mcbtayhn@LEONIS.NUS.SG>

Note from the editor: this req. is not strictly pertinent to
HMGN: however given the fact that no good ID list was found by this person,
and that a number of HMGN subscribers are involved in ophtalmologic research,
I decided to post this message; I apologize to anybody that
could be displeased.

Our family has just published the story of our battles
with childhood cancer in our daughter. Michele was
a victim of a Wilms9 Tumor and is now a healthy 30 year
old young woman. Our story can - and is - helping other
families cope with the serious illness in a child.
See our web page at: http://www.whidbey.com/nolan/

Patrick Nolan

My name is Florence ********.  My daughter was born with an omphalocele in
Feb. of '79 in Valdosta, Georgia.
I am a white Caucasion.  I had read your article and would like to have more
info concerning omphaloceles.  Now my daughter is 17 and is battling with Burkitt's
lymphoma diagnosed in Nov. of '95.



At the University of Konstanz we have founded the Steinbeis-Transfer Zentrum
fuer Biomolekulare Medizin". This is a Medical Center devoted to molecular
diagnostics in clinical routine and predictive diagnostics.

We wellcome any cooperation in this field in one or more of the following

1. Routine molecular diagnostics for Alzheimer disease, factor V
mutation,colon cancer, breast cancer, osteoporosis, osteogenesis
imperfecta, obesity,thyroid lesions and neurological diseases.
2. Scientific investigations to detect multiple mutations in large gens,
i.e. BRCA1, p53, Collagen gen.

Reply-to: "PROF:Dr. R.D.Hesch" <rolf.dieter.hesch@uni-konstanz.de>

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