Comparative analysis of PCR-deletion detection and immunohistochemistry in Brazilian Duchenne and Becker muscular dystrophy patients

Lineu Cesar Werneck, Rosana Herminia Scola, Gustavo Henrique Boff Maegawa, Maurício Cesar Moura Werneck

Research output: Contribution to journalArticlepeer-review

Abstract

We studied 48 patients with dystrophinopathies (29 Duchenne muscular dystrophy (DMD), 13 Becker muscular dystrophy (BMD), four possible carriers, one female with DMD, and one intermediate form, using polymerase chain reaction (PCR) analysis of muscle tissue for 20 exons and compared them with immunohistochemistry studies for dystrophin. Of these, 42 (87.5%) showed at least one intragenic deletion. Most of them (47.45%) involved exons 2 to 20. All BMD patients presented deletions on the dystrophin gene. The 29 patients with DMD showed abnormal dystrophin in immunohistochemistry studies, some with total absence (17/29), others with residual (3/29), and the remaining with scattered positive fiber (9/29). The majority of the 13 patients with BMD had abnormal immunohistochemistry studies with diffuse reduction in the majority of muscle fibers (10/13), a few with patch discontinuation in the sarcolemma (2/13), and one normal (1/13). The immunohistochemistry exam for dystrophin is still the gold-standard method for DMD/BMD diagnosis. An ethnic difference, the analysis of several exons, the sample size, and the use of muscle tissue could explain this high frequency of deletions in the dystrophin gene found in our cases.

Original languageEnglish (US)
Pages (from-to)115-120
Number of pages6
JournalAmerican journal of medical genetics
Volume103
Issue number2
DOIs
StatePublished - Oct 1 2001
Externally publishedYes

Keywords

  • Becker muscular dystrophy
  • DNA deletion
  • Duchenne muscular dystrophy
  • Dystrophin
  • Immunohistochemistry
  • Muscle biopsy
  • Polymerase chain reaction

ASJC Scopus subject areas

  • Genetics(clinical)

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