686例生精障碍患者染色体核型与Y染色体微缺失分析

Analysis of chromosome karyotype and Y chromosomal microdeletions in 686 patients with azoospermia and severe oligozoospermia

目的利用染色体核型分析及Y染色体微缺失基因检测方法探索无精子症及严重少精子症患者的遗传学病因。方法收集无精子症患者490例、严重少精子症患者196例,使用传统G显带方法进行染色体核型分析,并使用15个Y染色体序列标签位点进行基因检测,对检测结果进行统计学分析。结果 490例无精子症患者共检出染色体多态性49例(10%)、异常核型30例(6.12%),Y染色体微缺失70例(14.29%),196例严重少精子症患者共检出染色体多态性15例(7.65%),Y染色体微缺失22例(11.22%),检测结果具有统计学意义。结论无精子症及严重少精子症患者具有较高的染色体核型异常与Y染色体微缺失发生率。

Objective To explore the genetic causes of azoospermia and severe oligozoospermia using analysis of chromosome karyotype and Y chromosomal microdeletions.Methods 490 patients with azoospermia and 196 patients with severe oligozoospermia were collected,chromosome karyotype and Y chromosomal microdeletions were detected by traditional G banding method of karyotype analysis or by multiplex polymerase chain reaction in which 15 STSs were selected.And statistical analysis of the test results was carried out.Results 49 cases（10%）chromosome polymorphism,30 cases of abnormal karyotype（6.12%）and 70 cases（14.29%）Y chromosome microdeletion were detected in490 Cases of azoospermia patients.Meanwhile,15 cases（7.65%）chromosome polymorphism and 22 cases（11.22%）Y chromosome microdeletions were found in 196 cases of severe oligozoospermia patients.The results indicated that there was a significant difference in genetic causes between patients and the controls（P〈0.01）.Conclusion The screening of abnormal karyotype and Y chromosome microdeletions should be performed in the infertile men with in oligozoospermia or azoospermia patients.