[siRNAs targetting sphingomyelin phosphodiesterase 1 protect mouse oocytes from apoptosis].

Objective: To investigate the potential of siRNAs targeting sphingomyelin phosphodiesterase 1 (SMPD1) in protecting the oocytes from apoptosis, and explore new approaches to female fertility preservation.

Methods: Chemically synthesized siRNA targeting SMPD1 were introduced into mouse oocytes retrieved by hyperstimulation, and the cell apoptosis was analyzed by comic assay 48 and 72 h later.

Results: In the oocytes without any siRNA injection, oocyte DNA damage occurred after 24 h, and large amount of DNA fragments migrated from the cells 48 h later.

[A novel KIT gene mutation from a family with piebaldism in the southern part of China].

Objective: To detect the gene mutation of a family with piebaldism.

Methods: Diagnosis of a patient with piebaldism was constructed by pathology, ultrastructural examination and typical clinical-phenotype. Detection of gene mutation was carried out by PCR and DNA sequencing.