非梗阻性无精子症患者细胞及分子遗传学效应研究  

Research on cellular and molecular genetic effects on infertile patients with non-obstructive azoospermia

作　　者：宋悦[1] 丁显平[1] 付莉[1] 李付广[1] 张敏[1] 张谨 

机构地区：[1]四川大学生命科学学院生物资源与生态环境教育部重点实验室,遗传医学研究所,成都610064 [2]四川省生殖健康研究中心附属生殖专科医院,成都610031

出　　处：《四川大学学报（自然科学版）》2011年第6期1443-1448,共6页Journal of Sichuan University(Natural Science Edition)

基　　金：重庆市卫生科技项目(10-03-013)

摘　　要：对103例非梗阻性无精子症患者进行常规外周血染色体G显带核型分析、AZF微缺失筛查、精浆生化指标和血清生殖激素定量检测.103例非梗阻性无精子症患者中,染色体核型异常16例,异常率15.53%,其中Klinefelter综合征8例,占异常总数的50.00%,其它性染色体异常5例,占异常总数的31.25%;AZF微缺失18例,缺失率17.48%,其中AZFc区缺失11例,占缺失总数的61.11%;染色体微缺失患者精浆锌浓度与染色体正常组患者比较,差异有统计学意义(P<0.05);染色体核型异常患者果糖浓度与染色体正常组患者比较,差异有统计学意义(P<0.05),尤其是Klinefelter综合征患者果糖浓度显著升高,差异有统计学意义(P<0.01);染色体核型异常患者FSH、LH均显著高于染色体正常组患者,差异有统计学意义(P<0.05),Klinefelter综合征患者T浓度则低于染色体正常组患者,差异有统计学意义(P<0.05);其他核型异常及Y染色体微缺失患者E_2浓度显著高于染色体正常组患者,差异有统计学意义(P<0.05).With the method of multiplex polymerase chain reaction, 103 non-obstructive azoospermia patients were detected for Y chromosome microdeletion. The reproductive hormone in serum and seminal plasma biochemistry of the 103 azoospermia patients were analyzed. Karyotype analysis were also obtained. Chromosome abnormalities were found in 16 out of 103 azoospermia patients （15. 53%）, of which 8 cases were Klinefelter syndrome （50. 00%）. Eighteen （18.45%） azoospermia patients showed Y chromosome microdeletions. Fructose, FSH and LH levels in the patients with chromosomal abnormalities and E2 level in the patients with Y chromosome microdeletions were all higher than that with normal karyotypes （P〈0.05）. However, ZN and T levels were lower than that with normal karyotypes （P〈0.05）. Furthermore, in the azoospermia patients with Klinefelter syndrome, Fructose, FSH and LH levels increased more significantly, and it was statistically different from that in azoospermia pa- tients with normal karyotypes （P〈0.01）.

关 键 词：非梗阻性无精子症 染色体异常 微缺失 精浆生化 生殖激素 

分 类 号：Q341[生物学—遗传学]