Biopolymers and cell. 1991. Volume 7. № 2. 98 - 103

MALYSHEVA O. V., GORBUNOVA V. N., BARANOV V. S., KRASILNIKOV V. V.

RELP Analysis and Screening of Deletions in the Families of Patients with DMD

Summary

    Allelic polymorphism of 5 loci closely linked or inside the dystrophin gene has been studied by Southern's blot analysis and polymerase chain reaction in high risk families. Method of multiplex polymerase chain reaction has been used for detection of dystrophin gene deletions. 29 of 36 families studied have been informative for prenatal diagnosis and carrier detection with one or more DNA probes. Different deletions of dystrophin gene have been detected in 11 of 32 DMD patients. Prenatal diagnosis of DMD has been carried out in two families at the first trimester of pregnancy. Advantages and disadvanta¬ges of RFLP analysis and direct deletions identification for DMD carrier detection and prenatal diagnosis are discussed.