HUM-MOLGEN archive: CALL: various febr 1997

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