Molecular diagnosis of Duchenne muscular dystrophy by use of a conformational polymorphism in the absence of DNA from an affected boy

S Tuffery; P Moine; P Sarda; G Lefort; P Boulot; J Demaille; M Claustres

Molecular diagnosis of Duchenne muscular dystrophy by use of a conformational polymorphism in the absence of DNA from an affected boy

Genet Couns. 1994;5(2):183-5.

Authors

S Tuffery¹, P Moine, P Sarda, G Lefort, P Boulot, J Demaille, M Claustres

Affiliation

¹ Laboratoire de Biochimie Génétique, CNRS UPR 9008/CRBM U249 INSERM, Institut de Biologie, Montpellier, France.

PMID: 7917130

Abstract

We report the molecular diagnosis of Duchenne muscular dystrophy (DMD) in an extended pedigree by use of a conformational polymorphism detected by the SSCP method, which allowed direct prenatal diagnosis and carrier detection while no DNA from an affected boy was available.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Chorionic Villi Sampling
DNA / genetics*
Dystrophin / genetics*
Female
Genetic Counseling
Humans
Male
Muscular Dystrophies / diagnosis
Muscular Dystrophies / genetics*
Pedigree
Polymerase Chain Reaction*
Polymorphism, Genetic*
Polymorphism, Restriction Fragment Length
Pregnancy
Prenatal Diagnosis
Protein Conformation

Substances

Dystrophin
DNA