Author/Editor		Zagradišnik, Boris; Zidar, Janez; Meznarič-Petruša, Mija; Župančič, Neža; Peterlin, Borut
Title		The use of quantitative PCR for the detection of DMD/BMD carriers and duplications in the dystrophin gene
Type		članek
Source		Acta Cardiomiol
Vol. and No.		Letnik 8
Publication year		1996
Volume		str. 93-8
Language		eng
Abstract		Duchenne and Becker musculur dystrophies (DMD/BMD) are allelic diseases that emerge because of the mutation in the dystrophin gene. So far deletions, duplications 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 cariers and to apply the method for duplication detection in Slovene DMD/BMD patients without detected deletions. Methods. We included mothers of patients affected by the deletio 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 amplification of 17 exons and promoter region using densitometric evaluation of the band intensities. Results. In both obligate carrier mothers we found quantitative differences of deletion, whereas whereas two other mothers of sporodic 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 deletion in the dystrophin gene of both obligate carriers we conclude that quantitative PCR could be a useful tool for the detection of mutation-derived quantitative differences in the dystrophin gene. As we found no evidence of the presence of duplication, we etimate that duplications are a less important type of mutation in Slovene DMD/BMD patients.
Descriptors		MUSCULAR DYSTROPHY DYSTROPHIN POINT MUTATION POLYMERASE CHAIN REACTION GENE DELETION BLOTTING, SOUTHERN DENSITOMETRY HETEROZYGOTE MULTIGENE FAMILY