Rezümékötet 2008. - vmtdk

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for the differentiation and maintenance of the peripheral nerves. Unfortunately, despite the huge amount of information
collected in the last few decades in this field, the molecular background of most of these neuropathies is still
unknown and none of them can be succesfully treated up to this day. In addition, the symptoms of different clinical
entities classified into the group of inherited peripheral neuropathies are overlapping, emphasizing the need of genetic
tests for the establishment of reliable diagnosis.
This work takes a closer look on Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with
liability to pressure palsies (HNPP), which are the two most prevalent inherited peripheral neuropathies. Both of
them are caused by distinct mutations of a single gene encoding peripheral myelin protein 22 (PMP22), duplication
(70% of CMT1A cases) and deletion (80% of HNPP cases) of the whole gene being the most frequent mutations.
The work introduces a method capable of PMP22 gene copy number quantification, which is meant to detect these
duplications and deletions and is based on relative quantification by real time PCR. This method tested on DNA
samples from 100 healthy individuals, 2 patients with deletion and 13 patients with duplication and evaluated by the
∆∆Ct method gave the following results: average value of patients with deletion is 0,62 (min. 0,62; max. 0,62), average
value of healthy individuals is 0,99 (min. 0,76; max. 1,24) and the average value of patients with duplication is 1,43
(min. 1,35; max. 1,55).
Keywords: Charcot-Marie-Tooth disease type 1A, CMT1A, hereditary neuropathy with liability to pressure palsies, HNPP,
peripheral myelin protein 22, PMP22, real time PCR
V I I . V A J D A S Á G I M A G Y A R T U D O M Á