Author/Editor     Zagradišnik, B; Zidar, J; Meznarič-Petruša, M; Župančič, N; Peterlin, B
Title     The use of quantitative PCR for the detection of DMD/BMD carriers and duplications in the dystrophin gene
Type     članek
Source     In: Zidar J, editor. Proceedings of the Symposium on update in neurogenetics with 12th dr. Janez Faganel memorial lecture; 1996 Oct 4-5; Ljubljana. Ljubljana: University institute of clinical neurophysiology,
Publication year     1996
Volume     str. 58-66
Language     eng
Abstract     Duchenne and Becker muscular dystrophies (DMD/BMD) are allelic diseases that emerge becuuse of the mutation in the dystrophin gene. So far deletions, du;ications and point mutations have been described. While the detection of deletions is now a routine procedure, only densitometric analysis of the band intensities obtained from Southern blot or polymerase chain reaction (PCR) has proved to detect duplications. The aim of this study was to test the quantitative PCR with identification of obligate female deletion carriers and to apply the method for duplication in Slovene DMD/BMD patients without detected deletions. Methods. We included mothers of patients affected by the deletion to test the selected method, and DMD/BMD patients that tested negative for deletion. Quantitative differences present in the dystrophin gene of the tested persons were detected with the PCR amplifirences present in the dystrophin gene of the tested persons were detected with the PCR amplification of 17 exons and promoter regions using densitometric evaluation of the band intensities. Results. In both obligate carrier mothers we found quantitative differences of deletion, whereas two mothers of sporadic DMD patients were typed as deletion free. We analyzed the DNA of 17 DMD and 8 BMD patients. No evidence for duplications was detected. Conclusion. Based on the discovery of deletio in the dystrophin gene of both obligate carriers we conclude that quantitative PCR could be a useful tool for the dectection of mutationderived quantitative differences in the dystrophin gene. As we found no evidenc of the presence of duplication, we estimate that duplications are a less important type of mutation in Slovene DMD/BMD patients.
Descriptors     MUSCULAR DYSTROPHY
DYSTROPHIN
DNA MUTATIONAL ANALYSIS
CHILD
ADOLESCENCE
ADULT
GENE DELETION
GENES, REITERATED