Pheno- and genotype correlation analysis in Duchenne/Becker progressive myopathies, in cystic fibrosis and galactosemia

A. Laszlo, E. Endreffy, Z. Havass, A. Szabo, I. Rasko, Y. Shin, J. J. Elsas

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Abstract

The correlation between the pheno- and genotype was studied in Duchenne/Becker myopathies. Molecular genetic analysis for 18 exons of dystrophin gene and promoter gene was carried out in 78 patients with PCR method. In multiple PCR for exons 8, 17, 19, 44, 45, 48 and for exons 4, 12, 51 was performed as described by Chamberlain et al. (1), whereas for muscle specific promoter (Pm), 3, 6, 13, 43, 47, 50, 52, 60 and 49 exons by Beggs' method (2). Promega Taq DNA polymerase enzyme and Boehringer dNTPs were used for the amplification reaction. The PCR products were kept at 4C before analysis and were analysed by 12% non-denaturing polyacrylamide gel electrophoresis. After staining the gel with ethidium bromide, the visible DNA-strands corresponding to the different amplified products were photographed. Results: 35 out of 78 patients had exonal deletions (45%). The most frequent deletions involved the 47-48-49-50 exons. 85% of exonal deletions occurred at the 3' end of the gene In Duchenne muscular dystrophic (DMD) and intermediate cases mostly out of frame deletions occurred, while in Becker muscular dystrophic (BMD) patients the majority of the deletions were in frame type. There was no correlation between the extension of the deletions and the clinical severity and IQ. The in-frame or out-of-frame character of the deletion was responsible for the clinical phenotype.

Original languageEnglish
Pages (from-to)88-90
Number of pages3
JournalPaediatria Croatica
Volume39
Issue number2
Publication statusPublished - Jan 1 1995

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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