Andrew
You would think that is the obvious way forward. We've had a brief look at
this using flow cytometry, but the main limitation of this seems to be the
overlap in receptor activity between 'normals' and FH. The nature of the LDL
defect (it can be internalisation of LDL which is affected) also makes the
analysis less useful in some cases. Saying that, I still do not know how
much of the overlap could be removed by improving current methodology.
Kindest regards
Eric
----- Original Message -----
From: Taylor, Andrew <[log in to unmask]>
To: <[log in to unmask]>
Sent: Thursday, September 11, 2003 8:59 AM
Subject: Re: Paediatric screening for familial hyperlipidaemias
> 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
> [log in to unmask]
>
> ------ACB discussion List Information--------
> This is an open discussion list for the academic and clinical
> community working in clinical biochemistry.
> Please note, archived messages are public and can be viewed
> via the internet. Views expressed are those of the individual and
> they are responsible for all message content.
>
> ACB Web Site
> http://www.acb.org.uk
> List Archives
> http://www.jiscmail.ac.uk/lists/ACB-CLIN-CHEM-GEN.html
> List Instructions (How to leave etc.)
> http://www.jiscmail.ac.uk/
>
> ------ACB discussion List Information--------
> This is an open discussion list for the academic and clinical
> community working in clinical biochemistry.
> Please note, archived messages are public and can be viewed
> via the internet. Views expressed are those of the individual and
> they are responsible for all message content.
>
> ACB Web Site
> http://www.acb.org.uk
> List Archives
> http://www.jiscmail.ac.uk/lists/ACB-CLIN-CHEM-GEN.html
> List Instructions (How to leave etc.)
> http://www.jiscmail.ac.uk/
>
------ACB discussion List Information--------
This is an open discussion list for the academic and clinical
community working in clinical biochemistry.
Please note, archived messages are public and can be viewed
via the internet. Views expressed are those of the individual and
they are responsible for all message content.
ACB Web Site
http://www.acb.org.uk
List Archives
http://www.jiscmail.ac.uk/lists/ACB-CLIN-CHEM-GEN.html
List Instructions (How to leave etc.)
http://www.jiscmail.ac.uk/
|