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目的观察大(小)Y染色体患者AZF微缺失的发生情况并探讨其与临床疾病的关系。方法采用外周血淋巴细胞培养G显带技术以及多重聚合酶链反应技术对患者AZF微缺失6个序列标签位点进行检测。结果本实验对象为大小Y染色体患者共78例,其中38例大Y染色体核型患者中男性不育21例,妻子有不良孕产史10例,有其他不良孕产史7例(包括出生缺陷、死胎、早产等),均未发现AZF微缺失;在40例小Y染色体核型患者中男性不育28例,妻子有不良孕产史12例,发现AZF微缺失3例。结论大(小)Y染色体患者显示出一定的临床效应,大Y染色体引起的不育可能与AZF缺失无关,小Y染色体的男性则有发生AZF微缺失的风险。
Objective To observe the incidence of AZF microdeletions in patients with large (small) Y chromosome and to explore its relationship with clinical disease. Methods Six bands of AZF microdeletions were detected by G banding of peripheral blood lymphocytes and multiple polymerase chain reaction (PCR). Results A total of 78 patients with Y and Y chromosome sizes were included in this study. Of the 38 patients with Y chromosome karyotype, 21 were male infertility, 10 were with unfavorable pregnancy history and 7 were with other unhealthy pregnancy history (including birth defects , Stillbirth, premature delivery, etc.). No microdeletions of AZF were found. Among 40 small Y chromosome karyotypes, 28 were male infertility, 12 were pregnant women with unfavorable pregnancy history and 3 were diagnosed as AZF microdeletions. Conclusion Large (small) Y chromosome patients show some clinical effects. The infertility caused by large Y chromosome may not be related to the deletion of AZF. Men with small Y chromosome have the risk of microdeletion of AZF.