定量聚合酶链反应法对不育患者精子中DAZ基因缺失的诊断  

Diagnosis of the DAZ gene deletion in human sperm of infertile men by quantitative polymerase chain reaction

作　　者：郑英[1] 王黎熔[2] 柏惠[2] 周作民[2] 沙家豪[2] 

机构地区：[1]扬州大学医学院组织胚胎学教研室,扬州225002 [2]南京医科大学省生殖医学重点实验室,江苏南京210029

出　　处：《生殖医学杂志》2002年第5期269-273,共5页Journal of Reproductive Medicine

摘　　要：目的 :建立测定人精子 DAZ基因相对含量的定量聚合酶链反应 ( PCR)法并应用于检测不育男性精子中 DAZ基因的相对含量 ,以分析其病因。方法 :应用定量聚合酶链反应 ( PCR)法测定了 90例精子发生正常男性和 50例少、弱、畸精子患者精子中 DAZ基因的相对含量。结果 :以 ZFX/ ZFY基因为外部参照 ,精子发生正常男性精子中 DAZ基因的相对含量正常值为 1 .47± 0 .2 93。重复性试验结果表明定量 PCR法批内、批间变异系数分别为 5.8%～ 6.5%、9.5%～ 1 0 .8%。对不育男性的检测结果发现其中 1例少精子症患者 DAZ基因相对含量为 0 .5,明显低于正常值下限 ,其他不育患者未见明显异常。结论 :定量 PCR法测定人精子中 DAZ基因的相对含量是一种切实可行的检测方法 ,部分精子中 DAZ基因的缺失可能为男性不育的病因。Objective: A quantitative polymerase chain reaction (PCR) method for determining the DAZ gene in human sperm was developed, and the reason of infertile men was also analysed by using this method. Methods: The DAZ gene in sperms collected both from fertile men and from infertile men was analysed by quantitative PCR. Results: using the ZFX/ZFY gene as external standard, the DAZ gene in fertile men's sperm was 1.47±0.293. Repetitive test showed that the intra assay coefficient of variation (CV) of the PCR method was 5.8%~6.5% and the inter assay CV was 2002 02 27; 2002 05 08 郑英(1970~),女,江苏通州人,组织胚胎学硕士 9.5%~10.8%. One of the 50 oligozoospermia men had low amount of the DAZ gene of sperms (just 0.5). No obvious abnormality was found in the other patients. Conclusion: The quantitative method provides an available method for the analysis of DAZ gene in human sperm. DAZ deletion in sperms might also be a cause of spermatogenesis anomalies.

关 键 词：诊断 聚合酶链反应 DAZ基因 精子发生 

分 类 号：R698.204[医药卫生—泌尿科学]