无精子症和严重少精子症患者无精子因子检测的临床意义

目的评估无精子症和严重少精子症患者中核型异常及Y染色体微缺失发生的频率,并探讨无精子因子(AZF)检测的临床意义。方法运用染色体G显带及多重聚合酶链反应技术(PCR)对84例无精子症(30例)和严重少精子症(54例)的不育患者进行外周血染色体检查及Y染色体基因检测。结果84例无精子症和严重少精子症患者中核型异常者19例,占22.6%,异常核型中最常见的核型是克氏综合征(47,XXY),总发生率为7.1%,占所有异常的31.6%。AZF区域微缺失9例,总缺失率为10.7%。其中30例无精子症患者AZF缺失率13.3%(4/30),高于54例严重少精子症患者AZF缺失率9.3%(5/54)。AZFc区微缺失率3.6%高于AZFa区(1.2%)和AZFb区(1.2%)。结论AZFc基因缺失是导致男性无精子及少精子的重要原因之一,细胞遗传学检查与AZF微缺失无相关性,不能反应Y染色体上AZF缺失情况。

Clinical Significance of Testing AZF in Patients with Idiopathic Azoospermia or Severe Oligozoospermia

Objective To evaluate the azoospermia and severe oligospermia patients with abnormal karyotype and Y chromosome microdeletions in the frequency of occurrence and discuss the azoospermia factor （AZF） of the clinical significance of detection. Methods Test peripheral blood chromosome and detect Y chromosome genes of 84 cases of azoospermia （30 cases） and severe oligospermia （54 cases） in infertility patients by using chromosome G-banding and multiplex polymerase chain reaction （PCR）. Results 84 cases of azoospermia and severe oligospermia patients with abnormal karyotypes of 19 cases, accounting for 22.6%, abnormal karyotypes of the most common karyotype is Klinefelter syndrome （47, XXY）, the total incidence rate of 7.1%, accounted for 31.6% of all abnormalities. AZF region microdeletions 9 cases, the total deletion rate was 10.7%. of which 30 cases of azoospermia in patients with AZF deletion rate of 13.3% （4/30） was higher than 54 cases of patients with severe oligozoospermia AZF deletion rates of 9.3% （5/54）.Region AZFc microdeletion rate （3.6%） higher than the AZFa region （1.2%）.and AZFb region （1.2%）. Conclusion AZFc gene deletion is a male with azoospermia and oligospermia one of the important reasons. There is no correlation between cytogenetic examination and AZF microdeletions. Not reflect the Y chromosome AZF deletions.