不育男性的AZF检测与Y染色体缺失的对照分析

Detection of microdeletion of AZF and Y chromosomal deletion in male infertility

目的探讨精子发生障碍的男性不育患者AZF缺失与Y染色体缺失的临床意义。方法对616例非阻塞性无精子症或少精子症患者进行AZF的检测,同时观察G显带Y染色体的形态。结果从616例患者中检测出48例患者分别为AZFa、AZFb、AZFc或AZFb+AZFc的微缺失,但显微镜下观察不到Y染色体形态改变。另外4例患者经AZF检测,2例为AZFc+sY160缺失,1例为AZFb+AZFc+sY160缺失,1例为AZFa+AZFb+AZFc+sY160缺失,显微镜下发现Yq部分或完全缺失。25例已育男性的G-显带的Y染色体和AZF也进行对照检测,均未发现AZF的缺失,但其中1例核型分析显示Y染色体长臂部分缺失,但PCR检测仅缺失sY160,即Yq12的缺失。结论Yq11.23上<7Mb的缺失在细胞水平不能分辨。q11.23+q12的缺失或仅有Yq12的缺失的Y染色体显微镜下不能区分,但后者不是精子发生障碍的病因。对男性不育精子发生障碍患者,要结合细胞遗传学和AZF分子检测综合判断。

Objectes ： To evaluate the clinical significance of kayrotyping associated with AZF microdeletion analysis in male spermatogenic failure. Mothods ： A total of 616 infertile patients with non obstructive azoospermatism or oligospermatism and 25 fertile men provided blood samples to detecte microdeletion of AZF and Y chromosomal deletion. Results： Forty- eight of 616 patients were with microdeletions of AZFa, AZFb, AZFc or AZFb ＋ AZFc, respectively. But no visible Y chromosome deletion was found. The other two patients with mulecular deletion of AZFc ＋ sY160 and a patient with deletion of AZFb ＋ AZFc ＋ sY160 were associated with microscopically visible partial deletion of Y chromosomal long arm by G - band. One patient with mulecular deletion of AZFa ＋ AZFb ＋ AZFc ＋ sY160 showed full deletion of Y chromosomal long arm by G -band kayrotyping. However, a fertile male was found with partial deletion of Y chromosomal long arm by kayrotyping and associated with microdeletion of sY160 by PCR. Conclusion ： Less than 7Mb deletion on Yql 1.23 couldn＇t be observed by kayrotyping. Deletions of Yql 1.23 ＋ q12 or only q12 can not be distinguishable by G - band kayrotyping. And the latter was not the reason of spermatogenic failure, comprehended evaluation should be made by combining cytogenetics with molecular analysis of AZF for male with spermatogenic failure.