Cytogenetic diagnosis on single lymphocyte of DMD patient with exon 50 deletion by two-time duplex PCR / 第三军医大学学报

ABSTRACT

Objective To perform the cytogenetic diagnosis on single lymphocyte of DMD patient with dystrophin gene exon 50 deletion.Methods Single lymphocytes of a DMD patient with dystrophin gene exon 50 deletion and normal volunteers were picked out and prepared for two-time duplex PCR.Results The rate of precise positive was 92%,91% and 93% in specimens of the patient(SRY positive,exon 50 negative),the male volunteer(SRY positive,exon 50 positive)and the female volunteer(SRY negative,exon 50 positive),respectively.Conclusion Two-time duplex PCR is fit for the genetic diagnosis of single lymphocyte from DMD patient with dystrophin gene exon 50 deletion.