HUM-MOLGEN archive: CALL: June 1997 various

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Ann Schofield Arthur Bergen (CALL editors) ************************************************************************ THIS MESSAGE CONTAINS THE FOLLOWING: 1) Request for Known carnitine palmitoyl transferase-deficient tissue/leukocytes 2) Request for collaboration on Hereditary neuralgic amyotrophy (HNA) 3) Molecular Genetics overview request 4) Clinical Genetics exam questions via the internet ************************************************************************ 1) Request for Known carnitine palmitoyl transferase-deficient tissue/leukocytes My colleagues and I are doing research on carnitine palmitoyl transferase 2 (CPT2) deficiency in humans. We are setting up molecular analyses for the known mutations (approx. 10) and need positive specimens especially for the Pro50His mutation. Once we have established our detection system for the known mutations, we will begin to identify new mutations in the gene among individuals who do not have any of the known mutations. We would approeciate any assistance available from colleagues. Thank you. Georgirene D. Vladutiu, Ph.D. Associate Professor of Pediatrics & Neurology School of Medicine & Biomedical Sciences State University of New York at Buffalo 936 Delaware Avenue Buffalo, NY 14209 Phone: (716)878- Email: gdv@acsu.buffalo.edu ************************************************************************ 2) This message was originally submitted by stogbau@UNI-MUENSTER.DE to the HUM-MOLGEN list at NIC.SURFNET.NL. Dear Ladies and gentlemen! Refinement of the hereditary neuralgic amyotrophy (HNA) locus Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant, recurrent focal neuropathy characterized by episodes of painful brachial plexus neuropathy with muscle weakness and atrophy, as well as sensory disturbances. Single episodes are commonly preceded by unspecific infections or immunization, or are associated with parturition. Minor facial dysmorphic features are present in some pedigrees but do not clearly segregate with the disease. To confirm the recently described HNA locus on distal chromosome 17q, we performed a genetic linkage study in an extended Turkish pedigree. We were able to refine the HNA locus on chromosome 17q24-q25 in a 16 cM region (St-gbauer et al., Hum.Genet. 99:1997:685-687). In order to further refine the locus we are searching for more HNA families to find more recombination events. We would be grateful for collaboration with other groups who are aware of HNA families. Please contact: Florian St-gbauer Klinik und Poliklinik f r Neurologie WWU M nster Albert Schweitzer Str. 33 48129 M nster, Germany +49-251-8348178 stogbau@uni-muenster.de ************************************************************************ 3) Funkymonk@hotmail.com (Jeremy Dowe) sent the following comments: ------------------------------------------------------------ Sir/Maddam, As a student of the Southport School, Queensland Australia I am requesting for your assistance with a Yr12 Biology Assignment with my chosen topic of Molecular Genetics I would appreciate any relevant information involving a general overview of the topic. Thank-you J.Dowe ************************************************************************ 4) This message was originally submitted by nvtom@LINK.CYTSPB.RSSI.RU to the HUM-MOLGEN list at NIC.SURFNET.NL. I am interested to have typical examination questions in medical and clinical genetics via Internet. Please, let me know where I could get them. Thank you in advance, N.Tomilin, Ph.D., M.D. ******************************************************************** ****************************************************************** IMPORTANT MESSAGE: Please note that my e-mail address has changed to: ann.s@sc.dce.ac.nz ****************************************************************** Ann Schofield Dunedin College of Education 44 Isabella Street Southland Campus Invercargill 100 Nelson Street Invercargill Tel: (03) 217 5028 New Zealand FAX: (03) 216 1399 ****************************************************************** ************************************************************************ 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 ************************************************************************