口腔脱落细胞检测无精子因子微缺失的临床应用

Detection of microdeletions in azoospermia factor(AZF) from oral exfoliated cells

目的探讨同一个体口腔脱落细胞和血液检测无精子因子（AZF）缺失的相关性，研究口腔脱落细胞检测AZF的可行性。方法选择287例研究对象，其中严重少弱精症120例，无精症80例，正常男性87例。同一受试对象的血液和口腔脱落细胞样本统一编号。应用多重PCR技术，分别检测口腔脱落细胞、血液基因组中AZF区域的Y染色体微缺失情况。结果血液和口腔脱落细胞检出AZF缺失的样本编号一一对应，并且缺失类型一致。在200例患者中，29例检出基因组AZF基因微缺失，余171例患者和87例正常对照者未检出AZF基因微缺失。结论在进行Y染色体微缺失筛查中，13腔脱落细胞检测AZF简便、无创，可以替代血液AZF检测。

Objective To evaluate the application of oral exfoliated cell samples in detection of microdeletions in azoospermia factor （AZF）, Methods Blood sample and oral exfoliated cells were collected from 120 patients with severe oligospermia, 80 patients with azoospermia, and 87 normal males as control. Multi-PCR technique was applied to detect the Y chromosome microdeletions in AZF region in oral exfoliated cells and blood cells genome, The results of blood cells and oral ex- foliated cells from same subjects were compared. Results AZF microdeletion was detected in 29 patients, while the rest 171 patients and 87 normal male had negative results; the results from oral exfoliated cells were all consistent with those from blood cells. Conclusion Oral exfoliated cell samples can be used for Y chromosome microdeletions screening, which is comparable to blood cell samples.