ABSTRACT. We studied a family with two cousins who were diagnosed with complete androgen insensitivity syndrome, an X-linked disorder caused by mutations in the androgen receptor gene. A pedigree analysis and a molecular study using PCR and DNA sequencing clarified each female family member's androgen receptor status and revealed a mutation consisting of the deletion of exon 2 and surrounding introns of the androgen receptor gene. Based on the relative nucleotide positions, we concluded that the deletion mutation in exon 2 and its surrounding introns was approximately 6000 to 7000 bp. This mutation, never previously fully characterized using DNA sequencing, was responsible for complete androgen insensitivity syndrome in this family. Pedigree analysis with a molecular study of the androgen receptor gene in affected families facilitates genetic counseling provided to family members.

The purpose of the present study is to establish a new animal model of azithromycin (AZ)-induced liver injury and study the molecular pathological change during the process. First, mice were respectively injected intraperitoneally with AZ of different high doses. Our results showed that 800 mg/kg AZ injection significantly induced liver injury in the mice, which reflected an ideal process of liver injury and repair. In this study, we analyzed the molecular pathological changes during the process by hematoxylin and eosin staining, immunohistochemistry, Western blot, and quantitative real-time reverse transcription polymerase chain reaction in the liver of mice at 0, 12, 24, 48, and 72 h after 800 mg/kg injection. Our results showed that the expression of heat shock protein 70, proliferating cell nuclear antigen, vascular endothelial growth factor, caspase 3, and cytochrome P450 2E1 were significantly differently expressed during liver injury induced by 800 mg/kg AZ in mice. Our results will be conducive for further study of the pathogenesis and prevention of drug-induced liver injury.