OBJECTIVETo identify the mutation of human androgen receptor gene (AR) in a patient with complete androgen insensitivity syndrome (CAIS).

METHODSDNA sequences of 8 exons and their exon/intron boundaries of the AR gene in the patient were amplified by PCR and directly sequenced.

RESULTSDNA sequencing revealed a nonsense mutation in exon 1, resulting in a change of codon 441 GAA (glutamic acid) to a stop codon (TAA).

CONCLUSIONA novel mutation Glu441stop (GAA to TAA) of the androgen receptor gene leading to complete androgen insensitivity syndrome was identified in this study in a Chinese patient. It may help us further understanding the pathogenesis of CAIS.

Adult ; Androgen-Insensitivity Syndrome ; genetics ; Base Sequence ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Polymerase Chain Reaction ; methods ; Receptors, Androgen ; genetics ; Sequence Analysis, DNA ; methods

To establish and analyze the HPLC specific chromatograms of Xingnaojing injection manufactured by different factories. The separation was performed on a Thermo BDS Hypersil C₁₈ column (4.6 mm×250 mm, 5 μm), with the mobile phase consisting of acetonitrile-0.02% formic acid aqueous solution for gradient elution. The flow rate was 1.0 mL•min⁻¹, and the column temperature was 35 ℃. The detection wavelength was set at 254 nm, and the sample size was 20 μL. Eleven chromatographic peaks were identified as characteristic peaks of HPLC specific chromatograms of Xingnaojing injection, after analyzing 29 batches of Xingnaojing injection samples. Compared with the reference substances, seven of them were identified as eucarvone, camphor, curcumenone, curcumenol, curdione, curzerenone and germacrone, respectively. HPLC specific chromatograms of Xingnaojing injection manufactured by three factories could be easily classified into three categories after investigation with computer-aided similarity evaluation system combined with principal component analysis. The established HPLC specific chromatograms provide a basis for scientific evaluation and effective control of the quality of Xingnaojing injection.