Molecular analysis of the Duchenne muscular dystrophy gene in Spanish individuals: deletion detection and familial diagnosis

American Journal of Medical Genetics
A PatiñoM García-Delgado

Abstract

Deletion studies were performed in 26 Duchenne muscular dystrophy (DMD) patients through amplification of nine different exons by multiplex polymerase chain reaction (PCR). DNA from paraffin-embedded muscle biopsies was analyzed in 12 of the 26 patients studied. Optimization of this technique is of great utility because it enables analysis of material stored in pathology archives. PCR deletion detection, useful in DMD-affected boys, is problematic in determining the carrier state in female relatives. For this reason, to perform familial linkage diagnosis, we made use of a dinucleotide repeat polymorphism (STRP, or short tandem repeat polymorphism) located in intron 49 of the gene. We designed a new pair of primers that enabled the detection of 22 different alleles in relatives in the 14 DMD families studied. The use of this marker allowed familial diagnosis in 11 of the 14 DMD families and detection of de novo deletions in 3 of the probands.

References

May 20, 1992·JAMA : the Journal of the American Medical Association·J S ChamberlainG Rysiecki
Dec 9, 1988·Nucleic Acids Research·J S ChamberlainC T Caskey
Jan 1, 1993·Journal of Child Neurology·B L Maria, W English

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Citations

Mar 21, 2008·Pediatrics International : Official Journal of the Japan Pediatric Society·Muhammad J HassanWasim Ahmad
Jun 17, 2020·Molecular Genetics & Genomic Medicine·Edmond Wonkam-TingangAmbroise Wonkam

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