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染色体异常和 Y 染色体微缺失被认为是两个白种人群中常见的生精障碍相关遗传因素。为了解中国无精症、严重寡精症患者中的染色体异常和 Y 染色体微缺失,运用染色体 G 显带技术,在 358 个原发无精症(256 人)和严重寡精症(102人)不育患者中进行染色体核型分析;同时运用多重 PCR 技术,在核型正常的患者和 100 个正常生育男性中,对 Y 染色体 AZF 区微缺失进行筛查。在 358 个患者中,39 人(10.9%)发现有染色体异常,Klinefelter(47, XYY) 最为常见。无精症患者性染色体异常频率明显高于严重寡精症患者 (12.1% vs 1%)。在 319 个核型正常的患者中,46(14.4%)发现有AZF 区微缺失,无精症和寡精症患者中 Y 染色体微缺失频率分别为 15%和 13.1%,AZFc 区的微缺失最为常见,AZFa 区的微缺失只见于无精症患者,正常生育男性中未发现 AZF 区的微缺失。结果显示,在中国无精症、严重寡精症患者中,大约 25%的患者有染色体异常或 Y 染色体 AZF 区微缺失,提示这两种遗传异常是中国人群生精障碍的重要相关遗传病因,有必要在男性不育的诊断以及利用细胞浆内精子注射技术进行辅助生育时,对患者的这些遗传异常进行筛查。
Chromosomal abnormalities and Y chromosome microdeletions are considered to be genetic factors associated with spermatogenic disorders that are common in both Caucasians. In order to understand the chromosomal abnormalities and Y chromosome microdeletions in patients with azoospermia and severe oligozoospermia in China, 358 patients with primary azoospermia (256) and severe oligozoospermia (102) Infertile patients with chromosomal karyotype analysis; simultaneous use of multiplex PCR technology in patients with normal karyotypes and 100 normal fertile men, Y chromosome AZF region microdeletions were screened. Among 358 patients, 39 (10.9%) had chromosomal abnormalities and Klinefelter (47, XYY) was the most common. The frequency of sex chromosome abnormalities in patients with azoospermia was significantly higher than in patients with severe oligozoospermia (12.1% vs 1%). In 319 patients with normal karyotypes, AZF microdeletions were found in 46 (14.4%), Y chromosome microdeletions in patients with azoospermia and oligozoospermia were 15% and 13.1%, respectively, and AZFc microdeletions were the most Common, AZFa microdeletions found only in patients with azoospermia, normal fertility in men found no deletion of AZF region. The results showed that about 25% of Chinese patients with azoospermia and severe oligozoospermia had chromosomal abnormalities or microdeletions of AZF in Y chromosome, suggesting that these two genetic abnormalities are important genetic causes of spermatogenic disorders in Chinese people. It is necessary to screen for these genetic abnormalities in patients in the diagnosis of male infertility and in the use of intracytoplasmic sperm injection for assisted reproduction.