Klinefelter综合征患者Y染色体AZF微缺失分析

目的观察Klinefelter综合征患者Y染色体AZF微缺失发生情况。方法12例Klinefelter综合征患者ICSI/IVF等辅助受孕前进行睾丸细针穿刺吸液细胞学检查及Y染色体AZF微缺失分析。确定8个实验用序列标签位点（STS）,分别是：sY84、sY86、sY127、sY134、sY152、sY153、sY254、sY255,并以X/Y连锁锌指蛋白基因（ZFX/Y）为内对照进行多重PCR筛查AZF微缺失。结果睾丸细针穿刺吸液细胞学检查显示,3例（25.0%,3/12）可见到极少量形态较完整的精子及各级生精细胞、精子细胞,7例（58.3%,7/12）仅见少量生精细胞及精子细胞,2例（16.7%,2/12）仅见支持细胞,未见生精细胞及精子。12例Klinefelter综合征患者共检测出AZF微缺失2例分别为AZFa＋AZFc区缺失和AZFb＋AZFc区缺失;对照组32例样本未检出AZF基因微缺失。KS患者AZF微缺失检出率与对照组比较有显著差异（χ^2=5.587,P=0.018）。结论Klinefelter综合征患者存在Y染色体长臂AZF微缺失,缺失率为16.7%。

Study of Y chromosome azoospermia factor microdeletions in infertile patients with Klinefelter''''s syndrome.

Objective： To observe spermatogenesis and the microdeletions of AZF（azoospermia factor） on Y chromosome in infertile male with Klinefelter＇s syndrome（KS）.Methods： Testicular cytology by fine neddle aspiration（FNA） and Y chromosome microdeletions were performed in 12 KS patients to carried out pre-ICSI/IVF.Multiplex PCR was used to detect the AZF-candidate genes as follows：sY84,sY86,sY127,sY134,sY152,sY153,sY254,sY255,and ZFX/Y was used as internal control gene.Thirty-two healthy fertilized men used as controls.Results： Cytology analysis by FNA in 12 patients with KS revealed a little of spermatozoa with normal morphology and different levels spermatogenic cell and the spermatids in 3 KS,only spermatogenic cells in 7 KS and spermatogenesis arrest in 2 KS.Two microdeletion cases existed in total 12 KS,including one in AZFa＋ AZFc and one in AZFc＋ AZFb.No microdeletion was detected in fertile controls（χ^2=5.587,P=0.018）.Conclusion：AZF region microdeletion of Y chromosome might account for about 16.7% of infertile male patients with KS.