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  Robert Resta: DIAG (5 messages, 1 Pt. Request)  
   

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To: HUM-MOLGEN@NIC.SURFNET.NL
Subject: DIAG (5 messages, 1 Pt. Request)
From: Robert Resta <bc928@scn.org>
Date: Tue, 9 Dec 1997 10:08:15 -0800

The following messages have been submitted to the DIAG section of
HUM-MOLGEN. Replies should be made directly to the originator of each
message, unless the message is a Patient Request in which case replies
should be made to HUM-MOLGEN. DIAG messages can also be found at our
website (http://www.informatik.uni-rostock.de/HUM-MOLGEN/).

Summary of Messages:

1) Type 2 Diabetes Gene Mapping Consortium
2) Autosomal Recessive Congenital Alopecia
3) Keloids
4) Chromosomal Translocation
5) Acrocentric Marker Chromosome (PATIENT REQUEST)
--------------------------------------------------------------------------

1) From: "Wagner, Michael" <mw29911@GLAXOWELLCOME.COM>
Subject:      Call for collaboration

A consortium of groups mapping genes for type 2 diabetes is being formed
to carry out a joint analysis of their linkage data.  Because of a
number of interesting findings both published and not yet published, the
Consortium initially will focus on chromosome 20.  Participating groups
will provide relevant phenotype information, and genotype information on
a framework map of chromosome 20 markers and on other chromosome 20 marker
they may already have typed.  Interested individuals should contact
Michael Boehnke, Steering Committee Chair for the Type 2 Diabetes
Linkage Analysis Consortium, at boehnke@umich.edu (e-mail), 313-936-1001
(phone), or 313-763-2215 (fax). Each institution seeking participation
should obtain their own IRB (or equivalent) approval.
__________________________________________________________________________

2) Subject: Disorders of Hair Development
From: "Dr. Markus Noethen" <noethen@SNPHYSIO2.WILHELM.UNI-BONN.DE>
Organization: Physiologie 2 Uni-Bonn

We are studying the molecular genetics of disorders of hair
development. We have recently mapped the gene for autosomal-recessive
universal congenital alopecia in a large Pakistanian pedigree (Nothen
et al., Am J Hum Genet, in press). We have now initiated a positional
cloning project to identify the causative disease gene. We are
actively searching for additional patients and their families to
perform linkage studies and mutation screening of candidate genes. In
addition, we are interested to perform linkage studies in other
disorders of hair development such as autosomal-dominant alopecia or
hypotrichia. We would greatly appreciate your collaboration or any
information and help you could give us. Please contact us by
telephone (+49) 228 287 2345, fax (+49) 228 287 2601 or e-mail
kruse@humgen.uni-bonn.de

Sincerely yours,

Dr. Roland Kruse, Dr. Markus M. Nothen
Institute of Human Genetics
University of Bonn
Wilhelmstr. 31
53111 Bonn, Germany

Dr. Markus M. Nothen
Institute of Human Genetics
University of Bonn
Wilhelmstr. 31
53111 Bonn, Germany
Tel.: +49 228 2872286
Fax:  +49 228 2872380
Email: noethen@humgen.uni-bonn.de
email: noethen@humgen.uni-bonn.de
--------------------------------------------------------------------------
3) Reply-To: Ernst Reichenberger <ernstrei@warren.med.harvard.edu>
Subject:      KELOIDS


Dear Colleagues,

We are currently working on the positional cloning of genes responsible
for heritable keloid formation. For our linkage analysis studies we are
looking for additional families affected with true keloids. I would
greatly appreciate your collaboration if yo u can contribute such a family
or if you have patients with familial keloids or know of somebody who has.
This study has IRB approval.

Ernst Reichenberger, Ph.D. Harvard Medical School Department of Cell
Biology 240 Longwood Ave. Boston MA 02115

Tel.    (617) 432-1762
FAX     (617) 432-0638

ernstrei@warren.med.harvard.edu

----------------------------------------------------------------------------
4) From: Laura Bianciardi <Bianciardi@UNISI.IT>
Subject: Chromosomal Translocations (4q;6q)


Dear Sirs,
have you any information about balanced translocation q4-q6 in pregnancy or
in prenatal diagnosis or in children? [Editorial Note: This is presumably
a t(4q;6q) translocation; no more specific information on breakpoints}.

Please, send information to Prof. Giovanni Centini, Gynecologist at the
Institute of Gynecology and Obstetrics of the University of Siena, Italy,
e-mail: Centini@unisi.it.

Thanks for the attention.


--------------------------------------------------------------------------
Subject: Acrocentric Marker Chromosome (PATIENT REQUEST)
From: PATIENT REQUEST - Reply Directly to HUM-MOLGEN
Patient Location: IRELAND
Reply-To: HUM-MOLGEN

5) A friend of mine, a Public Health Nurse, has a 1 year old child who has
a karyotype showing a small acrocentric marker chromosome of unknown
origin, possibly originating from chromosome 13.

She has being trying to get some more information on this topic.
1. from her professional view point and
2. from a parents point of view.

If you were able to point me in the right direction for some books,
information or even a web site that would help to enlighten us on this
topic.

Thank you.


   
 
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