HUM-MOLGEN archive: DIAG: 4 messages/2 Pt requests

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 4 submessage(s), 2 patient requests: 1. Genetic Basis of Low HDL? Pt request 2. Batten Disease--Pt Request 3. Factor V Leiden mutations 4. Peutz-Jeghers Syndrome Research Carlo Gambacorti MD, Editor, Agnes Tay, MD PhD, Asst Editor Human Molecular Genetics Network Diagnostics/Clinical Research Section ====================================================== 1. Genetic Basis of Low HDL? Pt request Apparent Patient Location: USA PLEASE REPLY DIRECTLY TO HUM-MOLGEN Hello! I am a 54 year-old Caucasian woman. My father died in 1972 from a heart attack, with no previous symptoms. In 1995, I underwent a triple bypass operation and have since been told that the cause of my coronary artery disease is an extremely low HDL level. After my surgery, my HDL level was 16. It is now 21, about a year anda half later. I am taking 3000 mg of niacin and being careful about my diet and exercise. My 26 year-old daughter has just been told that her LDL/HDl ratio is 6. Mine is 7. It seems to me that because we have three generations represented with this problem, this must be a dominant gene. Can you give me any information about this condition and help me understand what has gone wrong in my system to cause such extremely low HDL levels. What kinds of research is being done about this condition, if any. Thank you very much. ========================================================= 2. Batten Disease--Pt Request Apparent Pt Location: Canada PLEASE REPLY DIRECTLY TO HUM MOLGEN Looking for any information regarding Batten Disease. I have a five year old little girl affected. She is the "late-Infantile" form the disease. Please help...any information would be beneficial. ========================================================== 3. Factor V Leiden mutations 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 ************************************************************************ 4. Peutz-Jeghers Syndrome Research Hi: We have a family with Peutz-Jeghers syndrome who is interested in participating in a research study. Is anyone interested in collecting samples from this family? Thank you, jennifer ivanovich, ms genetic counselor medical genetics washington university school of medicine st. louis mo 63110 ivanovich@kids.wustl.edu