Avtor/Urednik		Stangler Herodež, Špela; Zagradišnik, Boris; Erjavec Škerget, Alenka; Zagorac, Andreja; Kokalj-Vokač, Nadja
Naslov		Molecular diagnosis of PMP22 gene duplications and deletions: comparison of different methods
Tip		članek
Vir		J Int Med Res
Vol. in št.		Letnik 37, št. 5
Leto izdaje		2009
Obseg		str. 1626-31
Jezik		eng
Abstrakt		Several techniques can be used to diagnose Charcot-Marie-Tooth disease type 1A(CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), but no technique combines simplicity with high sensitivity. Multiplex ligation-dependent probe amplification (MLPA) was applied to develop an efficient and sensitive test for the detection of duplication/deletion of the peripheral myelin protein 22 (PMP22) gene. The study sample included 70 probands that had each been previously analysed by fluorescence in situ hibridization (FISH) and the restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) assay, both of which detect a unique recombination fragment uniquely present in most patients with the duplication. A total of nine duplications and 19 deletions were detected in the 70 probands using MLPA, and there was 100% concordance between MPLA and FISH. A single duplication was missed by the RFLP-PCR assay, which accords with the lower sensitivity of this method. It is concluded that the MLPA allows accurate detection of PMP22 gene duplications/deletions and could be used for the molecular diagnosis of these two neuropathies.
Deskriptorji		GENE DELETION POLYMERASE CHAIN REACTION IN SITU HYBRIDIZATION, FLUORESCENCE GENETICS, MEDICAL