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目的观察Y染色体≤22号染色体患者Y染色体微缺失的发生情况。方法本实验对象为47例Y染色体≤22号染色体患者,其中A组精子密度<10×106/ml共12例,B组精子密度≥10×106/ml共35例,采用多重聚合酶链反应技术对其进行Y染色体微缺失15个序列标签位点进行检测。结果47例患者中共有4例发现微缺失,缺失率为8.51%;4例均为A组中发现,A组AZF总缺失率为33.33%,AZFa区缺失率为0%,AZFb区缺失率为25%,AZFc区及d区的缺失率均为33.33%,其中3例在无精子症中,缺失率为60%,1例在严重少精子症中,缺失率为14.29%;B组未发现微缺失,缺失率为0%。结论对于Y染色体≤22号染色体的男性,精子密度≥10×106/ml者AZF微缺失发生率很低;而无精子或严重少精子者,则有发生AZF微缺失的风险,尤其无精子症患者发生AZF多区域的联合缺失的风险显著增加。
Objective To observe the occurrence of Y chromosome microdeletions in patients with chromosome Y ≤22. Methods A total of 47 patients with chromosome Y ≤22 were enrolled in this study. Among them, 12 cases in group A with sperm density <10 × 106 / ml and 35 cases in group B with sperm density ≥10 × 106 / ml were analyzed by multiplex polymerase chain reaction Technology to its Y chromosome micro deletion of 15 sequence tag sites for testing. Results A total of 47 patients were found to have microdeletions in 4 cases, the rate of deletion was 8.51%. In group A, 4 cases were found in group A, the total deletion rate of AZF in group A was 33.33%, the deletion rate in AZFa was 0% and the deletion rate of AZFb was 25%. The deletion rates of AZFc and d were 33.33%, of which 3 cases were in azoospermia, the deletion rate was 60%, 1 case of severe oligospermia, the deletion rate was 14.29%; B was not found Microdeletion, the deletion rate was 0%. Conclusions For men with chromosome Y ≤ 22, the incidence of AZF microdeletions is very low for those with sperm density ≥10 × 106 / ml; those without sperm or severe oligospermia have a risk of microdeletion of AZF, especially azoospermia Patients have a significantly increased risk of combined deletions of AZF multi-regions.