Application of BestSeqTM technology in the genetic mutation detection of progressive muscular dystrophy / 国际检验医学杂志

ABSTRACT

Objective To apply the BestSeqTM new generation pathogenic gene detection technology to perform the genetic detec‐tion in the patients with progressive muscular dystrophy (PMD) validating its sensitivity and specificity .Methods The BestSeqTM new generation pathogenic gene detection technology was used to perform the gene sequencing in 2 cases of limb‐girdle muscular dystrophy(LGMD) and 6 cases of Dunchenne′s muscular dystrophy(DMD) ,and the found point mutations were confirmed by the Sanger sequencing method .Results This study completed the genetic detection in above 8 cases ,2 cases of large fragment deletion and 10 cases of micromutations were detected ,in which 8 micromutations were the new mutation discovered ffor the first time and verified by the Sanger sequencing .Conclusion The BestSeqTM new generation pathogenic gene detection technology greatly increa‐ses the detection efficiency by using the high density imbricate type probe and multiple tag technology ,and has the better clinical ap‐plication prospects .