一例46,XX女性患者含有男性DAZ基因诊断分析

The diagnosis and analysis of an 46, XX male by DAZ gene detection.

本文应用聚合酶链反应对１ 例４６ ，ＸＸ女性男性化患者同时检测了ＳＲＹ、ＤＡＺ基因，结果显示该患者基因组中存在ＤＡＺ基因片段，未检出ＳＲＹ 基因片段，提示ＤＡＺ基因可能在性别分化中有一定作用，而ＳＲＹ 基因作用于性别决定阶段。

With the use of PCR,we detected DAZ and SRY gene in an 46, XXG male .The result showed that the patient has DAZ gene fragment,but not SRY gene fragment.We postulate that DAZ could play some role in sexual differentiation,while SRY could play some role in sexual determination.