HUM-MOLGEN archive: DIAG, CALL :

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 4 submessage(s): 1) cryptorchidism 2) autosomal dominant exudative vitreoretinopathy 3) genomic instability/microsatellite loci in position 6q27 4) Molecular Genetics QA programs Carlo Gambacorti MD, Editor, Human Molecular Genetics network Diagnostics/Clinical Research Section ************************************************************** ************************************************************** What is the latest information on the molecular aspects of inguinal hernia and/or cryptorchidism in humans/mice? Brad Brad A Didion <t80bad1@CORN.CSO.NIU.EDU> ************************************************************** The gene for autosomal dominant exudative vitreoretinopathy (AKA Criswick-Schepens syndrome) has been mapped, but a linkage study in one family we have studied shows no linkage to the previously assigned location, and weak evidence suggesting linkage on a different chromosome. This suggests genetic heterogeneity. We are looking for other families to test this. Chris Friedrich, M.D., Ph.D. Voice (410) 614-2521 Lipid Research-Atherosclerosis Unit Fax (410) 955-1276 Dept. of Pediatrics, CMSC 6-104 Voice mail (410) 614-1030 Johns Hopkins University School of Medicine 600 North Wolfe Street Baltimore, MD 21287 cfriedri@welchlink.welch.jhu.edu ************************************************************** Dear collegues, i'm studying genomic instability in human tumors. I need a list of microsatellite loci in position 6q27, with related PCR oligonucleotide sequences and amplifi=ed product sizes. Could anybody help me ? Best Regards & thanks in advance -- Alberto Cominelli Agip S.P.A Via Emilia 1, S Donato Milanese (MI) phone number +2-520-62948 e-mail: comi@crs4.it,cominelli@agip.geis.com ************************************************************** Dear Colleague re Molecular Genetics QA programs The Human Genetics Society of Australasia is establishing QA programs in molecular genetics for the more common molecular genetic diagnoses. We have a CF module being distributed to 10 laboratories on a regular basis and hope to have DMD, HD, and FMR-1 going within the next few months. There are a number of disorders that are handled by only one or two labs in Australia & NZ, and clearly it would not be feasible to establish QA programs for these molecular diagnoses in isolation. I would like to establish an informal register of what QA programs have been established in molecular genetics around the world. This would enable those developing QA modules in common disorders to share their experience (eg how do you address QA issues for HD alleles of intermediate length). It would also allow labs offering a relatively uncommon assay to join a QA program established overseas (eg is anyone out there offering a PMP22 QA module?). I'd be very grateful if you could let me know the following! 1 What QA modules do you offer or know about? 2 Who is the contact person (email or fax, please)? 3 How much does it cost? 4 Can labs from other countries apply to join? Once this data is collated, I plan distributing the list via the HUM-MOLGEN and MXDIAG servers. Thanks in anticipation. Yours sincerely, Graeme Suthers ---------------------------------------------------------------------- Dr Graeme Suthers tel (int)-61-8-204 7375 Department of Medical Genetics fax (int)-61-8-204 6088 Women's & Children's Hospital North Adelaide SA 5006 AUSTRALIA ---------------------------------------------------------------------- <<< email: gsuthers@medicine.adelaide.edu.au >>> ----------------------------------------------------------------------