HUM-MOLGEN archive: DIAG: 6 messages/1 PT.REQ.

************************************************************** 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 France 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 1994;4(4):271-275. 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 1995;310(6993):1533. 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 GLRA1. Mike Owen Depts. of Psychological Medicine and Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XN, UK. 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/ Thanks 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. *** PLEASE, REPLY TO HUMAN MOLECULAR GENETICS DIRECTLY *** ************************************************************** 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 activities: 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> **************************************************************