626例严重生精障碍男性染色体和无精子因子的研究分析

Chromosome and azoospermia factor in 626 males with severely impaired spermatogenesis

摘要:

目的：分析严重生精障碍男性的染色体异常和无精子因子（azoospermia factor，AZF）的特点。方法：采用G显带技术分析染色体核型，应用多重PCR技术检测AZF微缺失。结果：在443例无精症与183例严重少精症患者中，79例染色体出现异常（12.62%），其中无精子组68例（15.35%），严重少精症组 11例（6.01%）。同时，在严重少精症组中发现１个未经报道的易位核型46，XY，t（4；8）（q35；q22）。Y染色体AZF微缺失68例（10.86%），其中无精子组和严重少精子组发生率分别为11.51%和9.29%。在AZF微缺失中，以AZFc缺失最为常见，其次是AZFb和AZFd缺失，构成比分别为41.18%、20.59%与10.29%。在68例Y染色体微缺失中，14例合并染色体异常，无精子组和严重少精子组分别为10例和4例。结论：遗传异常是严重生精障碍患者的重要病因，在行辅助生殖技术（assisted reproductive technology，ART）前，需要进行染色体和Y染色体的微缺失检测，以减低父代异常基因遗传给后代的风险。

Abstract:

Objective：To analyze the features of chromosomal abnormalities and azoospermia factor（AZF） of males with severely im－paired spermatogenesis. Methods：G-banding and multi-PCR method were used to analyze the karyotypes of chromosome and AZF microdeletions respectively. Results：In 443 cases of azoospermia and 183 cases of severe oligozoospermia，79 cases（12.62%） of chro－mosomal abnormalities were found；68 cases（15.35%） in azoospermia group and 11 cases（6.01%） in severe oligozoospermia group. Meanwhile，the translocation karyotype 46，XY，t（4；8）（q35；q22） in severe oligozoospermia group was firstly reported. There were 68 cases（10.86%） of Y chromosome AZF microdeletions，accounting for 11.51% and 9.29% in azoospermia group and severe oligo－zoospermia group respectively. The deletion type AZFc was the most common，followed by AZFb and AZFd；the constituent ratio of the three types were 41.18%，20.59%，10.29%，respectively. In 68 cases of Y chromosome microdeletions，14 cases complicated with chro－mosomal abnormalities（10 cased in azoospermia group and 4 cases in severe oligozoospermia group）. Conclusion： Genetic abnormality is important for patients with severely impaired spermatogenesis. Detection chromosome abnormality and Y chromosome microdeletions is necessary before applying assisted reproductive technology in order to decrease the risk of abnormal gene inherited from the father.