无精及少弱精症患者核型和Y染色体微缺失研究

Study on the Karyotype and Y Chromosome Microdeletion in Aspermatism or Oligozoospermatism Patients

目的 探讨无精、严重少弱精患者细胞遗传学和Y染色体微缺失之间的关系.方法 60例无精子或严重少弱精子患者均来自西京医院不孕不育门诊.采用G显带法分析外周血核型,多重PCR法检测Y染色体微缺失.结果 60例患者中,染色体检测出大Y 2例,易位2例,倒位1例,缺失1例,克氏征1例,常染色体多态性2例,共9例核型异常.检出Y染色体微缺失4例,其中2例为大Y患者,1例核型为46,XY,13P^＋,1例核型正常.结论 大Y与Y染色体微缺失存在一定相关性.

Objective To study the relationship between karyotype and Y chromosome microdeletion in aspermatism or oligozoospermatism patients. Methods 60 aspermatism or oligozoospermatism patients were collected from infertility sterility center of Xijing Hospital. Their karyotypes of peripheral blood were analysed by G banding. Multiplex PCR amplification was used to examine Y chromosome microdeletion. Results Among the 60 patients,there were 9 with abnormal chromosomal karyotypes ,including 2 with big Y, 2 with translocation, 1 with inversion, 1 with deletion, 1 kernig and 2 euchromosome heteromorphism. 4 cases with Y chromosome mlcrodeletion were detected ,including 2 patients with big Y,1 with 46,XY,13^P＋ ,and the other normal karyotype. Conclusion The big Y chromosome would be related to Y chromosome microdeletion.