Improved diagnosis of Duchenne/Becker muscular dystrophy.

Abstract

Molecular genetics has revolutionized the way one should consider a patient with muscular dystrophy. The purpose of this Perspectives article is to set the parameters by which physicians may judge their neuromuscular patients in the context of recent advances in the understanding of both genetic and biochemical aspects of muscular dystrophy. We will first review some of the progress that has occurred over the past 5 years. This will illustrate how advances at the basic science level have led directly to powerful new diagnostic tests and, hence, to a new "molecular definition" of Duchenne and Becker muscular dystrophies (DMD and BMD).' After discussing the strengths and weaknesses and appropriate use of these tests, we will end with specific examples of their use in a clinical setting. We hope this review will aid in the rapid transition of these tests from the research laboratory to routine clinical use.

Adenovirus-mediated gene transfer into striated muscles

“…The inherited forms have a relatively high prevalence, and most lack adequate treatment. Recent advances in DNA diagnostics are likely to decrease the incidence of the familial forms if appropriate genetic counseling is employed [ 17]. However, the high frequency of sporadic cases, including de novo mutations, necessitates the search for cures to these diseases.…”

Gene Mutations in Adult Japanese Patients With Dilated Cardiomyopathy

“…Oligonucleotide primers were used to amplify exons of the following genes: -myosin heavy chain (MYH7), myosin ventricular regulatory light chain 2 (MYL2), myosin ventricular essential light chain 1 (MYL3), cardiac myosin binding protein C (MYBPC3), cardiac actin (ACTC), -tropomyosin (TPM1), cardiac troponin T (TNNT2), cardiac troponin I (TNNI3), cardiac troponin C (TNNC1), and lamin A/C (LMNA). The multiplex PCR method 20,21 was used for the analysis of the dystrophin gene. Single-strand conformational polymorphism (SSCP) analysis of amplified DNA was then performed using a method described previously, 22 with a slight modification.…”

Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes.

“…Toward this end, in the past decade or so many methodological advances have been made to detect the human genetic abnormalities at the DNA level. These include indirect methods such as linkage analysis by the Southern blotting technique (1) in which the inheritance of a disorder is associated with the presence of a restriction fragment length polymorphism (RFLP)-e.g., Duchenne muscular dystrophy (2). Other indirect methods include RNase A cleavage at mismatches in probe RNA-sample DNA duplexes or denaturing gradient gel electrophoresis for mismatches in probe DNA-sample DNA duplexes-e.g., 3-thalassemia (3,4).…”