大(小)Y染色体患者AZF微缺失分析与临床疾病关系的探讨

Analysis of AZF microdeletion for patients with the long or short Y chromosome and exploration of its clinical significance

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 occurrence of the long or short Y chromosome in patients with AZF microdeletion to occur and to explore its clinical significance.Methods G banding cytogenetic analysis and multiplex polymerase chain reaction technology were applied,six sequence tagged sites were detected in Y chromosome.Results Among 38 cases of long Y chromosome,21 cases were founded patients with male infertility,10 patients whose wives had recurrent miscarriage,and 7 cases had other different abnorma reproduction.But there was no AZF microdeletion.Among 40 cases of short Y chromosome,28 cases were founded patients with male infertility,12 cases whose wives had recurrent miscarriage,there were 3 cases with Y chromosome microdeletion.Conclusion Long or short Y chromosome may lead to some different clinical effect,there was no relation between the male sterility with long Y chromosome and AZF deletion.But it has risk of AZF microdeletion for a short Y chromosomes in males.