Targeted sequencing and RNA assay reveal a noncanonical JAG1 splicing variant
2020-01-24
Alagille syndrome (ALGS), as known as congenital arteriohepatic dysplasia, is a rare autosomal dominant multi-systemic disorder. Mutations in JAG1 or more rarely NOTCH2 have been reported as the cause of ALGS. In this study, a 5-year old girl with typical ALGS feature and her pregnant mother came to our reproductive genetics clinic for counseling. We aimed to clarify the genetic diagnosis and provide prenatal genetic diagnosis for the pregnant. Next generation sequencing (NGS)-based multigene panel was used to identify pathogenic
Genetic diversity of Trachycarpus fortunei（Hook.）H. Wendl germplasm resources in Guizhou by SRAP
2020-01-04
The study on genetic diversity and genetic structure of Trachycarpus fortunei（Hook.）H. Wendl resources in Guizhou，revealed its distribution pattern and variation trend，and provided scientific basis for the protection， development and utilization of T. fortunei germplasm resources in Guizhou. [Method] Based on SRAP molecular markers， 328 materials from 26 T. fortunei provenances in 7 agroclimatic regions of Guizhou were amplified. After electrophoresis analysis by Qsep 100 automatic nucleic acid protein analyzer，Popgene 1.32 and NTSY
