聚合酶链反应-单链构象多态性分析在精子发生相关基因检测中的应用

Application of PCR SSCP in detection of the spermatogenesis related gene

用聚合酶链反应方法检测了染色体核型正常的２００例无精子症患者基因组ＤＮＡ中的ＤＹＳ１基因，发现８例有ＤＹＳ１的缺失。选择６０例ＤＹＳ１阳性患者进行聚合酶链反应单链构象多态性分析，发现１例有多态性的改变，提示ＤＹＳ１的点突变亦与无精子症相关。认为，对于ＤＹＳ１阳性的无精子症患者有必要进行聚合酶链反应单链ＤＮＡ多态性分析。

Objectives: The purpose of this study is to analyse the point mutation of DYS1 in azoospermic patient and to find the relationship between point mutation and azoospermia. Methods: DYS1 DNA were detected by using polymerase chain reaction method in 200 azoospermic patient. In DYS1 positive patient, 60 were selected for the detection of point mutation by using single strand conformation polymorphism. Results: In 200 azoospermic men, 8 were DYS1 negative. In 60 DYS1 positive patients one had the point mutation of DYS1. Conclusion: The results indicated that point mutation of DYS1 may be related to azoospermia and PCR SSCP is useful for the detection of DYS1 point mutation.