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机构地区:[1]柳州市妇幼保健院遗传代谢病科,广西柳州545001 [2]柳州市妇幼保健院生殖中心,广西柳州545001
出 处:《中国优生与遗传杂志》2013年第12期66-67,120,共3页Chinese Journal of Birth Health & Heredity
摘 要:目的筛查严重少精子症和无精子症患者Y染色体AZF区域微缺失的发生情况,探讨Y染色体微缺失患者生殖激素的水平。方法对195例严重少精子症和80例无精子症患者进行Y染色体无精子因子(azoospermia factor,AZF)微缺失分析,同时用化学发光法测定生殖激素水平。结果 275例患者中发生AZF微缺失患者21例,检出率为7.6%,其中少严重精子症15例,无精子症6例。21例AZF微缺失情况:AZFa区缺失3例;AZFb+c+d区缺失4例;AZFc+d区缺失11例;AZFd区缺失3例。Y染色体AZFb+c+d区缺失患者的卵泡刺激素(FSH)值(46.2±10.3)mIU/mL显著高于无Y染色体缺失患者(17.6±15.2)mIU/mL和AZFa区、AZFc+d区、AZFd区缺失患者(15.8±5.7)mIU/mL,差异具有统计学意义(P<O.05)。结论在无精与严重少精症患者中Y染色体的微缺失以AZFc区和AZFd区缺失最为常见,Y染色体AZFb+c+d区缺失是引起高卵泡刺激素的重要原因之一。Objective: To screen for Y chromosome microdeletions in patients with severe oligospermia or azoospermia, and ex- plore the levels of gonadal hormone about patients of Ychromosome microdeletion. Methods: Y chromosome microdeletions among 195 patients with severe oligospermia and 80 patients with azoospermia were analyzed, and the levels of gonadal hormone were detected by chemilu - minescent met - hod. Results : The rate of microdeletion was 7. 6% (21 out of 275 patients), of which 15 were severe oli-gospermia, 6 were azoospermia. The deletion was on AZFa in 3 patient, AZFb + c + d in 4patients, AZFc + d in 11 patients, AZFd in 3 patient, respectively. The level of FSH (46. 2 + 10. 3mIU/mL) in the AZFb + c + d deletion group was significantly higher than that in the group without Y chromosome deletion (17.6 ± 15.2mIU/mL) and the other types of deletion ( 15. 8 ± 5.7 mlU/mL) ( P 〈 0. 05 ). Conclusion : The common microdeletion regions were AZFc and AZFd on Y chromosome in azoospermia or severe oligozoospermia. The microdeletion of AZFb + c + d was one of the important causes of the high level of FSH.
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