Mutations in the N-terminal Transcriptional Activation Region of Androgen Receptor in the Chinese

YU Xiao-Ling, WANG Xiao-Hui, CHEN Guang-Chun, ZHAO Zi-Wen, LU Jian
( Department of Pathophysiology, Second Military Medical University, Shanghai 200433, China )

Abstract    Activation function (AF1) region of N-terminal domain of androgen receptor (AR) is necessary for the transcriptional activation function of AR. The sequences of AF1 in twenty normal chinese were amplified by PCR and determined by direct dsDNA cycle sequencing. Based on this, the mutations in AF1 of AR in patients with androgen insensitivity syndrome(AIS) or prostate cancer(PC) were screened by a combination of single strand conformation polymorphism(SSCP) analysis and direct dsDNA cycle sequencing. The sequences between normal chinese and other races were identical and one point mutation (C966A, Ser296Arg), which had not been reported so far, was identified in a patient with prostate cancer with poor differentiation. That suggests alteration of structure and function in AF1 of N-terminal domain of AR might be relative with PC progression of some patients.
Key words    androgen receptor； N-terminal domain； gene mutation

Corresponding author： Tel, 86-21-25070284； e-mail, [email protected]