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Pregled bibliografske jedinice broj: 672596

Improved detection of deletions and duplications in the DMD gene using the multiplex ligation-dependent probe amplification (MLPA) method


Sansović, Ivona; Barišić, Ingeborg; Dumić Kubat, Katja
Improved detection of deletions and duplications in the DMD gene using the multiplex ligation-dependent probe amplification (MLPA) method // Biochemical genetics, 51 (2013), 3/4; 189-201 doi:10.1007/s10528-012-9554-9 (međunarodna recenzija, članak, znanstveni)


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Naslov
Improved detection of deletions and duplications in the DMD gene using the multiplex ligation-dependent probe amplification (MLPA) method

Autori
Sansović, Ivona ; Barišić, Ingeborg ; Dumić Kubat, Katja

Izvornik
Biochemical genetics (0006-2928) 51 (2013), 3/4; 189-201

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
DMD gene; MLPA

Sažetak
The multiplex ligation-dependent probe amplification (MLPA) assay is the most powerful tool in screening for deletions and duplications in the dystrophin gene in patients with Duchenne and Becker muscular dystrophy (DMD/BMD). The efficacy of the assay was validated by testing 20 unrelated male patients with DMD/BMD who had already been screened by multiplex PCR (mPCR). We detected two duplications that had been missed by mPCR. In one DMD patient showing an ambiguous MLPA result, a novel mutation (c.3808_3809insG) was identified. MLPA improved the mutation detection rate of mPCR by 15 %. The results of our study (1) confirmed MLPA to be the method of choice for detecting DMD gene rearrangements in DMD/BMD patients, (2) showed that ambiguous MLPA amplification products should be verified by other methods, and (3) indicated that the MLPA method could be used in screening even for small mutations located in the probe-binding regions.

Izvorni jezik
Engleski



POVEZANOST RADA


Projekti:
072-1083107-0365 - Istraživanje epidemiologijskih i genetičkih osnova prirođenih mana (Barišić, Ingeborg, MZOS ) ( POIROT)

Ustanove:
Klinika za dječje bolesti Medicinskog fakulteta

Citiraj ovu publikaciju

Sansović, Ivona; Barišić, Ingeborg; Dumić Kubat, Katja
Improved detection of deletions and duplications in the DMD gene using the multiplex ligation-dependent probe amplification (MLPA) method // Biochemical genetics, 51 (2013), 3/4; 189-201 doi:10.1007/s10528-012-9554-9 (međunarodna recenzija, članak, znanstveni)
Sansović, I., Barišić, I. & Dumić Kubat, K. (2013) Improved detection of deletions and duplications in the DMD gene using the multiplex ligation-dependent probe amplification (MLPA) method. Biochemical genetics, 51 (3/4), 189-201 doi:10.1007/s10528-012-9554-9.
@article{article, year = {2013}, pages = {189-201}, DOI = {10.1007/s10528-012-9554-9}, keywords = {DMD gene, MLPA}, journal = {Biochemical genetics}, doi = {10.1007/s10528-012-9554-9}, volume = {51}, number = {3/4}, issn = {0006-2928}, title = {Improved detection of deletions and duplications in the DMD gene using the multiplex ligation-dependent probe amplification (MLPA) method}, keyword = {DMD gene, MLPA} }
@article{article, year = {2013}, pages = {189-201}, DOI = {10.1007/s10528-012-9554-9}, keywords = {DMD gene, MLPA}, journal = {Biochemical genetics}, doi = {10.1007/s10528-012-9554-9}, volume = {51}, number = {3/4}, issn = {0006-2928}, title = {Improved detection of deletions and duplications in the DMD gene using the multiplex ligation-dependent probe amplification (MLPA) method}, keyword = {DMD gene, MLPA} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


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