Stangler Herodež, Špela ; Zagradišnik, Boris ; Kokalj-Vokač, Nadja
DNA copy number alterations are responsible for several categories of human diseases and syndromes. These changes can be detected by cytogenetic studies when there is involvement of several kilobases ...or megabases of DNA. Examination of sub-microscopic changes is possible by using short probes flanked by the same primer pairs. Multiplex ligation-dependent probe amplification (MLPA) is a simple, high resolution method by which not sample nucleic acids but probes added to the samples are amplified and quantified. Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy with a prevalence of about 1/10000. By a gene dosage mechanism, commonly trisomic overexpression of PMP22 results in CMT1A whereas its monosomic underexpression causes hereditary neuropathy with liability to pressure palsies (HNPP). We applied MLPA to the PMP22 gene in order to develop an efficient and sensitive test for detecting these gene dosage changes. The method was used on 56 samples collected for a previous comparative study on routine methods for CMT1A diagnosis used in our laboratory. All diagnoses agreed with results from other methods. The MLPA PMP22 assay is a simple, fast and accurate screening test for molecular diagnosis of CMT1A and HNPP.
It was not necessary to add the material to the shelf.
Bibliographic material was successfully added on shelf.
Adding bibliographical material on shelf was not successful.
Material is already on the shelf.
Permalink
URL:
Impact factor
Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.
Year
Impact factor
Edition
Category
Classification
JCR
SNIP
JCR
SNIP
JCR
SNIP
JCR
SNIP
Select the library membership card:
DRS,
in which the journal is indexed
Database name
Field
Year
Links to authors' personal bibliographies
Links to information on researchers in the SICRIS system
Subject headings in COBISS General List of Subject Headings
Select pickup location
The material from the parent unit is free. If the material is delivered to the pickup location from another unit, the library may charge you for this service.
