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Subject: DIAG: 4 messages/2 Pt requests
From: Agnes Tay <mcbtayhn@leonis.nus.sg>
Date: Mon, 3 Mar 1997 07:51:14 +1410

           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

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

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

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
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


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