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To: HUM-MOLGEN@NIC.SURFNET.NL
Subject: CALL: various febr 1997
From: "Bergen (ioi)" <A.A.BERGEN@AMC.UVA.NL>
Date: Thu, 6 Mar 1997 11:28:24 +0100

New CALLs!

The CALL TOPIC is open for CALLs for collaboration, offers of
assistance and request for (non-obvious) information and contacts.

-Please send high quality messages only; stating full name adress and
 purpose of your messages.
-Use the right TOPIC in the subject of your message.
-Other messages may be refused without further notification.

Please respond by private E-mail only, unless your answer is of
interest to the entire HUM-MOLGEN audience. Although the number of
replies vary per message, you could expect up to twenty replies to your
message.

Please do not forget to acknowledge the help of HUM-MOLGEN where
appropriate;
Thank you.

Good CALLs!

Arthur Bergen


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

This CALL contains:

1) Info on Crohns disease
2) Info on Molecular testing for Wiskott-Aldrich syndrome
3) Seeking adresses
4) Genetic hearing loss
5) Question about radiation hybrid mapping
6) Question about Factor V Leiden commercial diagnostic kits
7) Seeking adress for education opportunity
8) inheritance of beta thalassemia.
9) 10) Replies to previous CALLs

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

This message was originally  submitted by
nmatuha-tky@UMIN.U-TOKYO.AC.JP
to the HUM-MOLGEN list at  NIC.SURFNET.NL.
Dear Colleagues,

   I am interested in genetic aspects of Crohn's disease.  I'll be
very happy if you would generously tell me about any disorder that has
a syndromic association with Crohn's disease.  I have read a report on
a syndrome of Crohn's disease associated with pachydermoperiostosis
(Gastroenterology 1997:112,241).
Thanks in advance.

Nobuyuki Matsuhashi, M.D.
nmatuha-tky@umin.u-tokyo.ac.jp
The Third Department of Internal Medicine,
Faculty of Medicine, University of Tokyo.
7-3-1 Hongo, Bunkyo-ku, Tokyo 113, Japan.
phone: 81-3-3815-5411 ext 3112
fax: 81-3-5802-8875

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


This message  was originally submitted by
ascheuer@PED1.MED.UTH.TMC.EDU to
the HUM-MOLGEN list at  NIC.SURFNET.NL.


We have a patient with Wiskott-Aldrich syndrome.  The infectious disease
physicians are interested in molecular testing for this condition for

1)
any genotype/phenotype correlation, and
2)
carrier/prenatal testing.

The services that we have been able to find are limited to X-inactivation
or linkage testing.  Does anyone know of a lab doing molecular testing
(diagnostic or research) for Wiskott-Aldrich?

Thank you,


Angela E. Scheuerle, M.D.
Assistant Professor
Division of Medical Genetics
Department of Pediatrics
UT Health Science Center - Houston
6431 Fannin, MSB 3.144
Houston TX  77030
ascheuer@ped1.med.uth.tmc.edu


***************************************************************************
From: sundram@hotmail.com

Subject:

Dear Sir,

I am an optometrist looking for two adresses on behalf of my gentics
proffesor.They are:
1.Sick Children's Hospital, Toronto
2. Achondroplasia Society
Could you guide me as to where I can find these.
Regards
Mohan.

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

davidh@ihr.mrc.ac.uk (David C. Hughes) sent the following comments:

------------------------------------------------------------
Pivnik et al (J.Med Genet. 1996, 33:772-778) reported a case
Jacobsen syndrome in whom a brain stem auditory evoked response
indicated moderate bilateral hearing loss. In other reports
and reviews on Jacobsen syndrome that I have come across
there are no indications of any hearing loss. The possible
explanations are a) that hearing loss is not a common
feature of this disorder b) that moderate hearing loss has
not been assessed in these patients or c) that hearing loss
is secondary to the craniofacial abnormalities and varies
according to the severity. I would appreciate any comments or
information.

David C. Hughes,
MRC Institute of Hearing Research,
University Park,
University of Nottingham,
Nottingham
UK
NG7 2RD

email: davidh@ihr.mrc.ac.uk

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

This message was originally submitted  by grun@CS.SFU.CA to the
HUM-MOLGEN list
at NIC.SURFNET.NL.

 I would like to know what is radiation hybrid mapping or somatic
hybrid mapping and how it works  exactly (urgent). thanks.

 Gabrielle Grun
 grun@cs.sfu.ca
 Simon Fraser University

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

Thomas.Dick@Ac.cybercity.de (Thomas Dick) sent the following
comments:

------------------------------------------------------------
Dear Colleagues,
I have read the mail  of Neil (ndnandi@swbel) at this place, who is
searching for protocols to diagnose Factor V Leiden mutations. But I
couldn t reach him under this e-mail address. I am in the same situation
looking for protocols describing the detection of mutations in patients
with inherited activated protein C resistance. Does anybody
know a suitable source (paper) and does anybody know if there are
already commercial diagnostic kits containing the right primers?
Thomas Dick

Dr. Thomas Dick, Rheumaforschungsinstitut Aachen, Germany
E-Mail.:     Thomas.Dick@AC.CyberCity.de
Voice.:      Germany +49  241 /6096-4061 or. 4060
Fax.:         Germany +49  241 /6096-1964
Paper-Mail.: Dr. Thomas Dick, Rheumaforschungsinstitut
                  Haupstr.21, D-52066 Aachen, Germany


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

This message was originally submitted by
kumaravl@MCAI.MED.HIROSHIMA-U.AC.JP to

Dear Friends,

I am interested in doing MRCPath Molecular Pathology.  Could you help
me in getting the addresses of the Royal Colleges that offer this
particular speciality.  Any other details regarding this would be highly
appreciated.

Thanking you
Sincerely

T.S. Kumaravel, MD, PhD
JSPS Postdoc Fellow
Department of Hematology/Cancer Cytogenetics
Division of Molecular Biology, Res Inst Radiation Biology & Medicine
Hiroshima University School of Medicine, Hiroshima 734, Japan
Fax +81-82-256-7103
kumaravl@mcai.med.hiroshima-u.ac.jp


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

This  message  was  originally   submitted  by
S&DHarder@INFOBLVD.NET  to  the
HUM-MOLGEN list at  NIC.SURFNET.NL. I

Hello, all!
I am seeking information on the symptoms and mode of inheritance of
beta
thalassemia.  I would appreciate either specific information (in
layman's terms) on the disorder, or
direction to where I might find such information.  (I have already
accessed the OMIM database, but have found it somewhat difficult to
wade
through to find the information I am seeking.  If someone has tips on
the use of the OMIM, that would be greatly appreciated, also.)
Thank you very much for your time!
D Harder


**************************************************************************
REPLY:


In response to note from Dr. Ruoqian Shen who is interested in
clinical
molecular genetics...one contact is Mount Sinai School of Medicine in
New
York City.  Contact:  Dr. Christine Eng, 1 Gustave L. Levy Place, Box
1497, NY, NY 10029.  E-mail: ceng@smtplink.mssm.edu

Regards,
Michele Caggana, Sc.D.


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

REPLY:

This message  was originally  submitted by
jwixon@WORF.MOLBIOL.OX.AC.UK  to
the HUM-MOLGEN list at  NIC.SURFNET.NL.


Hello,

In response to the query on loss of the ends of Chromosome 6.

I am just writing up for a D.Phil after working for 4 years on a
collaborative project mapping chromosome 6p23, a band located towards
the
telomere of the short arm of chromosome 6. Although we do not work on
patient samples ourselves, we are very interested in collecting
information about such patients which helps us to know where the
genes
causing the various phenotypes may lie with a view to locating and
studying these genes.

I have read most of the reports on patients with distal 6p deletions
and
on patients with ring chromosome 6 (where they have been unlucky
enough to
lose material from the ends of both the long and short arms of
chromosome
6). I am less familiar with the distal 6q deletion patient reports,
but
have read about a few cases.

If the little girl has lost the ends of 6p, or has ring chromosome 6,
then
I have made some interesting observations as a result of my reading
which
may be of interest to the family, on the relationship between the
quantity of material lost and the pattern/severity of the phenotypes
observed. It may just help them to know that there are people looking
into
these abnormalities and who are hunting for genes in regions which
may be
important in the patient phenotypes. Our project collaborators (at
Guy's Hospital, London) recently mapped the critical region for cleft
lip
and palate to 6p24 by studying 3 patients with this phenotype who had
been
shown to have a 'damaged' chromosome 6p.

I apologise for my tardy response, but I wanted to complete the
literature
search before I replied.

Best wishes,

Joanne Wixon (Miss)
MRC Immunochemistry Unit,
Biochemistry Department,
Oxford University,
UK.




************************************************************************
Dr. Arthur A.B. Bergen
Department of Ophthalmogenetics
The Netherlands Ophthalmic Research Institute (IOI)
Royal Academy of Sciences of the Netherlands (KNAW)

** Snail-mail: **           ** FAX: **             ** E-mail: **

P.O.Box 12141               (+31)206916521         A.Bergen@IOI.KNAW.NL
1100 AC  Amsterdam
The Netherlands
************************************************************************


   
 
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