Baranov V s, Gorbunova V N, Malysheva O V, Krasil'nikov V V
Mol Gen Mikrobiol Virusol. 1991 Sep(9):13-5.
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.
采用针对肌营养不良蛋白基因6个不同外显子的6对寡核苷酸引物，通过聚合酶多重链反应（MPCR）对33例杜氏肌营养不良症（DMD）患者、7名健康供体和1个DMD风险家族进行了研究。在所研究的33例DMD患者中，有12例（36.3%）检测到大小从1到6个外显子不等的缺失。在妊娠早期通过绒毛取样进行DMD的产前诊断。与早期研究结果相反，在患有严重DMD表现的哥哥中，未在男性胎儿的DNA样本中检测到明显缺失，因此胎儿DMD的诊断被排除。讨论了MPCR在DMD产前和产后诊断中的前景。
