Marfan Syndrome mutation analysis ?
Peter Van Osta
pvanosta at allserv.rug.ac.be
Mon May 29 11:22:16 EST 1995
I am starting with the mutation analysis of our pool of Marfan patients, is
there anybody reading this who is also working on mutation sreening of this
I am using exon-flanking intron primers for PCR amplification of the (65)
exons of the FBN gene on genomic DNA, so I am not working on cDNA.
For the mutation-screening I intend to use Hydrolink MDE-gels for
heteroduplex analysis, is there anyone who has used these gels for this gene ?
What are the best conditions using this gel type (or another) to improve the
detection rate in the fibrillin-gene ?
Is it necessary to use cooling for the gels, or is room temperature
and low-power conditions sufficient for not disturbing the heterduplexes?
What is a good way for optimizing the formation of heteroduplexes ?
Thanks in advance for your help,
Peter VAN OSTA, MD
Centrum Medische Genetica
Universitair Ziekenhuis Gent (UZG) - 0 K 5
De Pintelaan 185
email: pvanosta at allserv.rug.ac.be
tel. +32-9-240 36 03
fax. +32-9-240 49 70
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