Analysis of AR gene variant in an infant with complete androgen insensitivity syndrome

Objective To detect potential variant of AR gene in an infant with complete androgen insensitivity syndrome. Methods The coding regions and splicing sites of the AR gene were subjected to PCR amplification direct DNA sequencing. Fluorescence quantitative PCR was also used to detect copy number alterations of exons 2 to 8 of the AR gene. Results Deletion of exons 2 to 8 was detected in the proband, and the results were verified among the family members. Conclusion Hemizygotic deletion of exons 2 to 8 of the AR gene probably underlies the complete androgen insensitivity syndrome in this infant. Key words: Androgen insensitivity; AR gene; Gene variant; Fluorescence quantitative PCR