HUM-MOLGEN archive: DIAG: 3 messages (1 PT REQ)

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 3 submessage(s): 1) Bazex-Dupre-Christol Syndrome 2) familial hypercholesterolemia 3) PT REQ./Werdnig-Hoffmann disease Carlo Gambacorti MD, Editor, Human Molecular Genetics network Diagnostics/Clinical Research Section ************************************************************** ************************************************************** We are very interested in contacting anybody who has access to kindreds with Bazex-Dupre-Christol Syndrome. Thank you Brandon Wainwright B.Wainwright@MAILBOX.UQ.OZ.AU ************************************************************** Dear Colleaques, We have a project funded by Turkish Governmental Agency on the subject of screening children for heterozygous familial hypercholesterolemia. This project aims for at least screening 15000 children in Aegean region of Turkey. At the moment we are searching for the current strategy and methods for the measurement of LDL-cholesterol and total cholesterol in blood speciemens. IS IT reliable and valid to use capillary blood? Which commercial assay is it convenient? Which kind of questions should we ask for families. Is there any guide for such a study? We are also looking for collaboration for screening LDL-receptor gene mutations in found patients in terms of standardization of mutation screning strategy and the estimation of possible exons etc. If there is anyone concerning on these issues, I would be very gratefull. THANK YOU VERY MUCH FOR ANY ASSISTANCE IN ADVANCE. SELIM UZUNOGLU EMAIL ADDRESS: SELIM@CBU.BAYAR.EDU.TR This a joint project prepared by Celal Bayar University in Manisa and 9 Eylul University Faculty of Medicine. Our Correspondence ADRESS: Dr Selim UZUNOGLU CELAL BAYAR UNIVERSITY FACULTY OF MEDICINE, DEPT. OF MED ICAL BIOLOGY AND GENETICS . MANISA- TURKEY FAX:+90-236-237 2442 CHIEF OF THE PROJECT. PROF. DR. ORHAN TERZIOGLU, DOKUZ EYLUL UNIVERSITY, FACULTY OF MEDICINE, DEPT. OF MEDICAL BIOLOGY AND GENETICS DEPT. INCIRALTI- IZMIR FAX+90-232-2590541 ************************************************************** We had a child with Werdnig-Hoffmann disease, who died. We want to know if a test exists (and where it can be performed) which can give us a sure answer on whether the disease was transmitted by the parents or not. Blood samples from the child are available. Apparent family location: Italy PLEASE, REPLY TO HUMAN MOLECULAR GENETICS DIRECTLY