Y染色体AZF区域基因微缺失的细胞分子遗传学和性激素水平研究

目的 研究精索静脉曲张并发无精子症患者Y染色体的细胞分子遗传学和性激素水平的相关性，探索Y染色体AZF区域基因微缺失的来源机制和内分泌学机制。方法 采用多重聚合酶链反应技术对2例外周血染色体常规筛查核型异常、精索静脉曲张并发无精子症患者外周血有核细胞和睾丸活检精原细胞同时进行分子遗传学检测，PCR产物经DNA测序检测证实，并测定血清中性激素6项。结果 核型为45，X0／46，XY，del（Y）（q11．21）；45，X0／46，XY，del（Y）（q11．23）二位患者外周血有核细胞和睾丸活检精原细胞AZF区域15个标签位点分别只扩增出SY84和SY86；SY86，其它区域位点均未检测到。血清中性激素6项中睾酮（T）、人促卵泡激素（FSH）和人促黄体生成激素（hLH）明显低于正常人水平。结论 Y染色体AZF区域的单细胞水平缺失与外周血基因组缺失保持一致，AZF区域基因微缺失对性激素水平可能有一定的影响。

Cellular and molecular genetics and gonadal hormone levels in gene mini-deletion in AZF domain of Y chromatosome

Objective:To explore the relationship between cellular and molecular genetics of Y chromatosome and gonadal hormone levels in the patients with spermophlebectasia complicating with azoospermia and to explore the endocrinological mechanism of gene mini-deletion in AZF domain of Y chromatosome.Methods:The molecular genetics analysis of peripheral blood karyocyte and orchi-biopsy spermatogenous cell in two patients with chromatosome caryotype abnormity in peripheral blood screened routinely and with spermophlebectasia complicating with azoospermia were performed by mult-PCR,then the production of PCR were confirmed by direct sequencing further.The levels of 6 kinds of gonadal hormone were determined also.Results:The caryotypes of the two patients were 45,X0/46,XY,del(Y)(q11.21)and 45,X0/46,XY,del(Y)(q11.23),respectively.Among 15 tag-site for AZF domain in Y chromatosome,only SY84,SY86 and SY86 were amplified in peripheral blood karyocyte and orchi-biopsy spermatogenous cell,others were not amplified.The levels of T,FSH and hLH in serum of these two patients were lower than that in normal volunteer.Conclusion:gene deletion in AZF domain of Y chromatosome in single cell level is coincidence with the gene deletion in peripheral blood karyocyte,and may affects the secretion of gonadai hormone.