摘要
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。
Objective： To study SRY gene＇s clinical value in diagnosis for the patients with sexual abnormality, and to probe the mechanism of sexual abnormality. Methods ： 32 patients with sexual abnormality and male infertility were studied. We checked the gene with polymerase chain reaction （PCR）. Results ： The rate of successful check is 93.75% （30/32）, the rate of abnormity is 28. 13% （9/32）, the positive rate of SRY gene in female is 9. 38% （3/32）, the negative rate of SRY gene is 18. 75% （6/32）. Conclusion： SRY gene is the key gene in gender differentiation, the deletion or mutation of SRY gene is the main reason of sexual abnormality, and the study also indicate that there are other genes acting during gender differentiation. Checking the SRY gene for the patients with sexual abnormality, can help us to understand the genetic pathogeny and supply the scientific basis.
出处
《中国优生与遗传杂志》
2008年第12期23-24,48,共3页
Chinese Journal of Birth Health & Heredity
基金
福建省漳州市科技计划项目
漳州市科协重大课题研究项目
