HUM-MOLGEN archive: Re: DIAG (2 messages)

The following requests have been submitted to the DIAG section of HUM-MOLGEN ------------------------------------------------------------------ >>Dear All: > >>I am doing research on the molecular basis of familial monogenic >>hypercholesterolemia(FH)(LDL-receptor defect). I am looking for valid >>updated protocol for finding the homo or heterozygous FH patients among >>the patients with the atherosclerosis or cardiovascular disease >>problems. >>Is there any questionary list or the follow up strategy of biochemical >>tests and their evaluations to confirm that the biochemical findings of >>lipid measurements indicates that the patient is homo or >>heterozygous FH before embarking on DNA analysis? >>If anyone knows any information source on the subject of selective >>criteria, could you please send me information my below adress. >>Thank you very much to everybody in advance. >>Yours Sincerely >>Selim Uzunoglu >> >> >>*************************************************** >>*Dr. Selim UZUNOGLU (Ms.C;Ph.D in Medical Biology)* >>*Celal Bayar University Faculty of Medicine * >>*Medical Biology and Genetics Dept., Manisa-TURKEY* >>*W.Phone:+90 (236) 237 2928 * >>* (236) 237 2886 Ext:141 * >>*W.Fax :+90 (236) 237 2442 * >>*H.Phone:+90 (232) 388 9377 * >>* (232) 388 0208 * >>*H. Fax: +90 (232) 374 7754 * >>*mailto:selim@cbu.bayar.edu.tr * >>*URL http://www.bayar.edu.tr/~selim * >>*************************************************** >> >> > > >From owner-ed-molgen@HEARN.NIC.SURFNET.NL Mon Mar 25 18:46:29 1996 Received: from HEARN.nic.SURFnet.nl (hearn.nic.surfnet.nl [192.87.5.132]) by scn.org (8.6.12/8.6.12) with SMTP id SAA25404 for <bc928@SCN.ORG>; Mon, 25 Mar 1996 18:46:21 -0800 Received: from HEARN.NIC.SURFNET.NL by HEARN.nic.SURFnet.nl (IBM VM SMTP V2R2) with BSMTP id 8897; Tue, 26 Mar 96 02:50:57 +0100 Received: from NIC.SURFNET.NL (NJE origin LISTSERV@HEARN) by HEARN.NIC.SURFNET.NL (LMail V1.2a/1.8a) with BSMTP id 6305; Tue, 26 Mar 1996 02:50:57 +0100 Received: from NIC.SURFNET.NL by NIC.SURFNET.NL (LISTSERV release 1.8b) with NJE id 6003 for ED-MOLGEN@NIC.SURFNET.NL; Tue, 26 Mar 1996 02:50:56 +0100 Received: from NIC.SURFNET.NL (NJE origin LISTSERV@HEARN) by HEARN.NIC.SURFNET.NL (LMail V1.2a/1.8a) with BSMTP id 6299 for <ED-MOLGEN@NIC.SURFNET.NL>; Tue, 26 Mar 1996 02:50:55 +0100 Received: from HEARN (NJE origin SMTP@HEARN) by HEARN.NIC.SURFNET.NL (LMail V1.2a/1.8a) with BSMTP id 6297 for <hum-molgen@HEARN>; Tue, 26 Mar 1996 02:50:51 +0100 Received: from arnie.systems.sa.gov.au by HEARN.nic.SURFnet.nl (IBM VM SMTP V2R2) with TCP; Tue, 26 Mar 96 02:50:48 +0100 Received: from state.systems.sa.gov.au by arnie.systems.sa.gov.au (PMDF V4.3-7 #13538) id <01I2SLP8YDYO002BRR@arnie.systems.sa.gov.au>; Tue, 26 Mar 1996 12:19:09 +1030 Received: from boco.wch.sa.gov.au by state.systems.sa.gov.au (PMDF V5.0-4 #13538) id <01I2SLOTDU34001C36@state.systems.sa.gov.au> for hum-molgen@nic.surfnet.nl; Tue, 26 Mar 1996 12:18:49 +1030 Received: by boco.wch.sa.gov.au with Microsoft Mail id <315851A8@boco.wch.sa.gov.au>; Tue, 26 Mar 1996 12:20:56 -0800 (PST) X-Mailer: Microsoft Mail V3.0 Content-transfer-encoding: 7BIT Encoding: 26 TEXT Message-ID: <315851A8@boco.wch.sa.gov.au> Date: Tue, 26 Mar 1996 12:18:00 -0800 Reply-To: Human Molecular Genetics Editors <ED-MOLGEN@HEARN.NIC.SURFNET.NL> Sender: Human Molecular Genetics Editors <ED-MOLGEN@HEARN.NIC.SURFNET.NL> From: "Suthers, Graeme" <suthersg@WCH.SA.GOV.AU> Subject: CALL: X-linked nystagmus X-To: HUM-MOLGEN Mailing List <hum-molgen@nic.surfnet.nl> To: Multiple recipients of list ED-MOLGEN <ED-MOLGEN@HEARN.NIC.SURFNET.NL> Dear Colleague, I have recently seen a family with X-linked congenital nystagmus and colour blindness (OMIM 310700). The locus on the X chromosome for this condition has not been mapped. This family is too small for an independent linkage study but would be suitable for inclusion in a larger study. Is anyone interested in such a study? We could supply either DNA or lab resources on a collaborative basis. Yours sincerely, Graeme Suthers. ________________________________________________________________________ Dr Graeme Suthers SA Clinical Genetics Service Centre for Medical Genetics Women's & Children's Hospital North Adelaide SA 5006 AUSTRALIA tel (08) 204 7375 (International prefix -61-8-) fax (08) 204 6088 (International prefix -61-8-) email suthersg@wch.sa.gov.au (Using MSmail) >> Please note new email address << ________________________________________________________________________