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目的 探讨无精子缺失 (deleted in azoospermia,DAZ)基因与精子发生的关系 ,以及特发性无精症与严重少精症患者 DAZ基因缺失的发生率。方法 应用聚合酶链反应对特发性无精症或严重少精症患者 DAZ基因进行检测 ,并结合患者的生殖激素水平及临床表型进行分析。结果 38例特发性无精症或严重少精症患者中有 3例 DAZ基因缺失 ,缺失率为 7.9% ,3名患者的血清 FSH水平均升高。 2 0名精子计数正常、有生育能力的男性无 DAZ基因缺失。结论 DAZ基因可能与精子发生相关 ,DAZ的微缺失可能是造成男性不育的原因之一。
Objective To investigate the relationship between the gene deletion of azoospermia (DAZ) and spermatogenesis and the incidence of DAZ gene deletion in patients with idiopathic and severe oligozoospermia. Methods Polymerase chain reaction (PCR) was used to detect DAZ gene in patients with idiopathic azoospermia or severe oligozoospermia, and the patients’ reproductive hormone levels and clinical phenotypes were analyzed. Results DAZ gene deletion was found in 38 cases of idiopathic azoospermia or severe oligozoospermia, with a deletion rate of 7.9%. All three patients had elevated serum FSH levels. 20 normal sperm count, fertile men without DAZ gene deletion. Conclusion DAZ gene may be related to spermatogenesis, and microdeletion of DAZ may be one of the causes of male infertility.