RT-PCR analysis of dystrophin mRNA in DND/BMD patients

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:134106

Ciafaloni, E; Silva, H A.R. de; Roses, A D ^[1]

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1. Duke Univ. Medical Center, Durham, NC (United States)

Duchenne and Becker muscular dystrophies (DMD, BMD) are X-linked recessive disorders caused by mutations in the dystrophin (dys) gene. The majority of these mutations are intragenic deletions of duplications routinely detected by Southern biots and multiplex PCR. The remainder are very likely, smaller mutations, mostly point-mutations. Detection of these mutations is very difficult due to the size and complexity of the dys gene. We applied RT-PCR to analyse the entire dys mRNA of three DMD patients with no detectable genomic defect. In two unrelated patients, a duplication of the 62 bp exon 2 was identified. This causes a frameshift sufficient to explain the DMD phenotype. In the third patient, who had congenital DMD and severe mental retardation, a complex pattern of aberrant splicing at the 3-prime exons 67-79 was observed. Sural nerve biopsy in this patient showed the complete absence of Dp116. PCR-SSCP studies are presently in progress to identify the mutations responsible for the aberrant splicing patterns.

• OSTI ID: 134106
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CORRELATIONS
DETECTION
EXONS
GENE MUTATIONS
GENES
GENOTYPE
HEREDITARY DISEASES
HUMAN X CHROMOSOME
MESSENGER-RNA
MUSCLES
PATIENTS
PHENOTYPE
POLYMERASE CHAIN REACTION
RECESSIVE MUTATIONS
SIZE
SPLICING