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 .

Over the past 30 years, Yarrowia lipolytica, Kluyveromyces, Pichia, Candida, Hansenula and other non-conventional yeasts have attracted wide attention because of their desirable phenotypes, such as rapid growth, capability of utilizing multiple substrates, and stress tolerance. A variety of synthetic biology tools are being developed for exploitation of their unique phenotypes, making them potential cell factories for the production of recombinant proteins and renewable bio-based chemicals. This review summarizes the gene editing tools and the metabolic engineering strategies recently developed for non-conventional yeasts. Moreover, the challenges and future perspectives for developing non-conventional yeasts into efficient cell factories for the production of useful products through metabolic engineering are discussed.
Gene Editing ; Metabolic Engineering ; Pichia/genetics* ; Synthetic Biology ; Yarrowia/genetics* ; Yeasts