does anyone use a receptor function assay?
-----Original Message-----
From: Ian Young [mailto:[log in to unmask]]
Sent: Thursday, September 11, 2003 8:46 AM
To: [log in to unmask]
Subject: Re: Paediatric screening for familial hyperlipidaemias
Trevor is certainly correct to point out the heterogeneous
nature of mutations in the FH population, and this has also been
our experience in Belfast, with no single LDL receptor mutation
accounting for more than about 5% of cases, and many mutations
restricted to only one family. Overall I would agree that it is
probably difficult to economically justify widespread genetic
testing at present, although it is definitely very useful in
individual families. However, once a mutation is identified in a
family subsequent testing of individual members is simple. With
technological advances rapid gene sequencing or testing for a
wide range of mutations will become easier and cheaper, so the
relative merits of cholesterol measurement and gene testing may
change. Our current use of genetic testing reflects a long term
research interest which has resulted in a very useful clinical
service.
Best wishes
Ian Young
----------------------
Professor IS Young
Department of Medicine
Wellcome Research Laboratories
Mulhouse Building
Royal Victoria Hospital
Grosvenor Road
Belfast BT12 6BJ
Northern Ireland
tel: +44 2890 632743
fax: +44 2890 235900
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