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目的为SRY在临床分子诊断中的应用提供参考,并对性发育异常机制进行探讨。方法通过对32例性发育异常患者和男性不育症患者进行SRY基因的检查分析,应用聚合酶链式反应(PCR)对性发育异常患者和男性不育症患者进行SRY检测。结果检出成功率为93.75%(30/32),异常率为28.13%(9/32),其中女性SRY扩增阳性率为9.38%(3/32),男性SRY扩增阴性率为18.75%(6/32)。结论SRY基因是性别分化的关键基因,SRY基因的缺失或突变是造成性发育异常的主要原因,研究也表明人类的性别决定和分化还有其他相关基因的参与。对性发育异常患者进行SRY基因检测,有利于了解该类患者的遗传学病因,为其诊断和治疗提供科学依据。
The purpose is to provide a reference for the application of SRY in clinical molecular diagnosis, and to explore the mechanism of sexual dysplasia. Methods SRY gene was examined in 32 patients with dysplasia and male infertility, and SRY was detected in patients with sexual dysplasia and male infertility by polymerase chain reaction (PCR). Results The successful rate was 93.75% (30/32), the abnormal rate was 28.13% (9/32), the positive rate of female SRY amplification was 9.38% (3/32), the negative rate of male SRY amplification was 18.75% (6/32). Conclusion SRY gene is the key gene of sex differentiation. The deletion or mutation of SRY gene is the main reason of sexual dysplasia. Studies have also shown that there are other related genes in human sex determination and differentiation. SRY gene detection of patients with sexual dysplasia, is conducive to understanding the genetic causes of such patients, to provide a scientific basis for its diagnosis and treatment.