[Analysis of deletion mutations of the dystrophin gene by the multiplex polymerase chain reaction method in the diagnosis of Duchenne muscular dystrophy].
The 33 patients suffering from the Duchenne muscular dystrophy (DMD), 7 healthy donors and a DMD risk family were studied by means of polymerase multiplex chain reaction (MPCR) with 6 oligoprimer pairs for 6 different exons of dystrophin gene. The deletions varying in sizes from 1 to 6 exons were detected in 12 out of 33 DMD patients studied (36.3%). The prenatal diagnosis of DMD was carried out by chorionic villus biopsy on the 1st trimester of pregnancy. Contrary to earlier findings, in elder brother with sever DMD manifestation, no visible deletion was detected in the DNA sample from the male foetus and thus the diagnosis of DMD in foetus was rejected. The perspectives of MPCR in pre and postnatal diagnosis of DMD are discussed.
Baranov
V s
Vs
Gorbunova
V N
VN
Malysheva
O V
OV
Krasil'nikov
V V
VV
D002872:Chromosome Deletion; D016189:Dystrophin / Q000235:genetics*; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis*; D016133:Polymerase Chain Reaction / Q000379:methods*; D011296:Prenatal Diagnosis
D016189:Dystrophin
Analiz deletsionnykh mutatsiĭ gena distrofina metodom mul'tipleksnoĭ polimeraznoĭ tsepnoĭ reaktsii v diagnostike miodistrofii diushenna.