HUM-MOLGEN archive: DIAG: 5 messages (1 PT REQ)

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 5 submessage(s): 1) Fragile X locus (FMR1)/call for collaboration 2) Friedreich's Ataxia/PT REQ. 3) trisomy 21 by FISH/setting up the service in Greece 4) DIDMOAD/Wolfram syndrome: correction of address 5) DIAG on WWW: IMPORTANT MESSAGE FROM THE EDITOR Carlo Gambacorti MD, Editor, Human Molecular Genetics Network Diagnostics/Clinical Research Section ************************************************************** ************************************************************** I am working on a Phase II SBIR application to the NIH focused on novel methods for high-throughput genotyping in triplet repeat expansion disorders. In one specific section of the proposal, we describe some novel separation methods we would like to test for differentiating punctuated (low risk) and non-punctuated (high-risk) premutation alleles at the Fragile X locus (FMR1). Due to the long size of the disease-causing alleles at this locus, most diagnostic laboratories are currently not using PCR for Fragile X. However, premutation alleles are reported to amplify by PCR. We are seeking access to FMR1 PCR products from premutation alleles to include profiles in the Phase II application which is due December 15, 1996. We have developed a novel DNA separation matrix that allows separation of 80 bp- 40 kb in very short runs on the instrument system that I am validating (See Mansfield et al. 1996 Am. J. Hum. Genetics 59(4): A307.) Our detection limits are approximately 2-3 orders of magnitude lower than other instrument systems. This should permit non-abundant PCR products to be detected. If you have PCR product from FMR1 premutation alleles that we might test for this purpose, I would very much like to collaborate. Elaine S. Mansfield, Ph.D. Molecular Dynamics, Inc. emansfield@MDYN.COM ************************************************************** I am new to this communications list. I am searching for information on reputable labs which are able to perform genetic testing for Friedreich's Ataxia. My close friends have a child who is being worked up for this and related syndromes. My understanding in that the genetic location has only recently been identified and few labs are appropriate for this. Any suggestions? The patient lives in the Buffalo, New York area. PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK ************************************************************** From: Dr Elena Kontogianni <elkont@HOL.GR> we plan to develop a program for prenatal diagnosis of trisomy 21 by FISH (and confirm the results by cytogenetics) . If somebody is offering the same service, I would be very interested to discuss technical and legal details. ************************************************************** ************************************************************** I am a clinical research fellow undertaking a study of the DIDMOAD/Wolfram syndrome of diabetes and optic atrophy. I have spent the last 2 years seeing about 35 children and adults with this condition, in order to understand the natural history, complications, and inheritance. The aim of my study is firstly to characterise the condition and share the information as widely as possible to help the clinicians looking after patients. Secondly to collect blood samples from patients and close relatives to extract the DNA and look at the genetic causes, hopefully to find the gene(s) and look for mutations that cause this. I would like to hear from clinicians who have patients with juvenile onset (under 30 years) diabetes mellitus, and optic atrophy as a minimum. I would also like to hear about patients with a related condition of thiamin responsive anemia, deafness and diabetes. My contact Email address: Barrettg@VMS1.bham.ac.uk *************************************************************************** Starting today (October 15), the DIAG section of HUM-MOLGEN is available on our WWW site at http://www.informatik.uni-rostock.de/HUM-MOLGEN/ Just click on "Clinical Research". As a courtesy to persons who already sent messages to DIAG, all postings which appeared in 1996 have been appended and will remain until the end of the year. Beginning January 1, 1997, messages will be deleted 3 months after the posting date. The same policy of DIAG will be applied to the web version. We believe this new service will increase the quality and value of the Human Molecular Genetics Network to our subscribers. Carlo Gambacorti MD Editor, for HUM-MOLGEN