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目的:研究Y染色体基因微缺失特别是DAZ基因微缺失与特发性无精子症和严重少精子症的关系。方法:采用PCR技术,对236例无精子症及少精子症患者AZF的13个Y染色体特异序列标签位点,进行Y染色体特别是DAZ基因微缺失的检测。结果:101例特发性无精子症患者中,Y染色体微缺失13例,发生率12.87%,其中11例发生DAZ基因微缺失,发生率为10.89%。135例严重少精子症患者中,Y染色体微缺失12例,发生率为8.89%,其中9例发生DAZ基因微缺失,发生率为6.67%。精液正常者(对照组)26例未发现Y染色体微缺失。结论:Y染色体微缺失是造成男性精子发生障碍的常见病因之一。DAZ基因与精子发生直接有关,是AZF重要候选成分之一。
Objective: To study the relationship between Y chromosome gene microdeletions, especially DAZ gene microdeletions, and idiopathic azoospermia and severe oligospermia. Methods: PCR was used to detect Y chromosome, especially DAZ gene microdeletions, in 13 Y chromosome specific sequence sites of AZF in 236 patients with azoospermia and oligospermia. Results: In 101 patients with idiopathic azoospermia, Y chromosome microdeletion in 13 cases, the incidence of 12.87%, of which 11 cases of DAZ gene microdeletions, the incidence was 10.89%. In 135 cases of severe oligospermia, 12 cases of Y chromosome microdeletion were found, the incidence was 8.89%, of which 9 cases had DAZ gene microdeletion, the incidence was 6.67%. Sperm normal (control group) 26 cases found no Y chromosome microdeletion. Conclusion: Y chromosome microdeletion is one of the common causes of male spermatogenesis disorder. The DAZ gene is directly related to spermatogenesis and is one of the important candidate components of AZF.