Cytogenetic diagnosis on single lymphocyte of DMD patient with exon 50 deletion by two-time duplex PCR
- VernacularTitle:二重二次PCR对外显子缺失型DMD患者单淋巴细胞遗传学诊断的研究
- Author:
Junhao YAN
;
Zijiang CHEN
;
Yingying QIN
- Publication Type:Journal Article
- Keywords:
Duchenne muscular dystrophy;
single lymphocyte;
genetic diagnosis;
two-time duplex PCR
- From:Journal of Third Military Medical University
2003;0(24):-
- CountryChina
- Language:Chinese
-
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.
