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目的 对 9例性发育异常患者进行分子遗传学检查分析以探讨性别异常的原因。方法 聚合酶链反应法(PCR)检测Y染色体长臂重复序列 (Y3、Y4)和SRY基因。结果 Y染色体长臂重复序列的存在与染色体核型一致 ;而 9例患者中 ,2例 46 ,XX男性患者 ,1例 46 ,XY女性患者 ,2例 46 ,XY男性性征发育不良患者和 1例 45 ,X/ 46 ,XY嵌合体患者SRY基因呈阳性 ,其余 3例SRY基因呈阴性。结论 人类的性别决定是以SRY基因为主导 ,一系列基因参与协调表达的调控串模式 ,SRY基因与性别决定有关 ,Y染色体长臂重复序列的扩增对于确认Y染色体的存在与否有重要意义
Objective To investigate the causes of gender dysfunction in nine patients with dysplasia by molecular genetic test. Methods Polymerase chain reaction (PCR) was used to detect long arm repeat Y chromosome (Y3, Y4) and SRY gene. Results The presence of long arm repeat sequence of Y chromosome was consistent with that of chromosome. In 9 patients, 2 cases of 46 and XX male patients, 1 case of 46 and XY female patients, 2 cases of 46 and XY male patients with dysplasia and 1 45 cases, X / 46, XY chimera patients with SRY gene was positive, and the remaining three cases of SRY gene was negative. Conclusion The sex determination of human beings is a regulatory series mode in which SRY gene is dominant and a series of genes are involved in coordinated expression. The SRY gene is related to sex determination. The amplification of long arm repeat Y chromosome is of great significance for confirming the existence of Y chromosome