摘要目的 探讨Y染色体AZF区域微缺失与生殖激素的关系.方法 应用多重PCR扩增对100例无精与严重少精症患者的4个区域15个位点进行AZF基因检测,并采用贝克曼全自动化学发光仪进行生殖激素的测定.采用Epidata建立数据库,应用SAS软件进行均数和方差分析F检验的统计分析.结果 100例患者中发生AZF微缺失的患者13例,检出率为13％.13例AZF微缺失情况:AZFa区缺失1例；AZFb+c+d区缺失4例；AZFc+d区缺失7例；AZFd区缺失1例.Y染色体AZFb+c+d区缺失患者的卵泡刺激素值(40.8±11.3)U/L显著高于无Y染色体缺失患者(16.7±14.3)U/L和AZFa区、AZFc+d区、AZFd区缺失患者(11.8±6.7)U/L,差异具有统计学意义(P＜0.01).结论 在无精与严重少精症患者中Y染色体的微缺失以AZFc区和AZFd区缺失最常见,而Y染色体AZFb+c+d区的缺失可能是引起高卵泡刺激素的重要原因之一.

abstractsObjective To investigate the relationship between follicle stimulating hormone (FSH) and AZF microdeletion on Y chromosome.Methods Fifteen loci of 4 regions of the AZF gene were investigated by multiplex PCR in 100 patients with azoospermia or severe oligozoospermia.The reproductive hormone FSH was detected by access 2 immunoassay system from BECKMAN COULTER.Epidata was set up and analyzed for means.F test of anova was performed.Results The rate of microdeletion was 13％ (13 out of 100 patients).The deletion was on AZFa in 1 patient,AZFb+c+d in 4 patients,AZFc+d in 7 patients,AZFd in 1 patient,respectively.The level of FSH (40.8± 11.3 U/L) in the AZFb+c+d deletion group was significantly higher than that in the group without Y chromosome deletion (16.7± 14.3 U/L) and the other types of deletion (11.8±6.7 U/L) (P＜0.01).Conclusion The common microdeletion regions were AZFc and AZFd on Y chromosome in azoospermia or severe oligozoospermia.The microdeletion of AZFb+c+d was one of the important causes of the high level of FSH.