染色体核型分析和Y染色体微缺失在男性不育患者检测方法中的应用及结果分析

Application and Result Analysis of Chromosome Karyotype Analysis and Y Chromosome Microdeletions in Detection Methods for Male Infertility Patients

摘要: 目的：研究染色体核型分析和Y染色体微缺失在男性不育患者检测方法中的应用及结果分析。方法：选取陕西地区无精症、弱精症、少精症等男性不育患者120例，采用多重荧光定量PCR方法对Y染色体AZF的6个标签序列位点进行检测以及采用G显带方法分析其染色体核型。130例健康体检男性作为对照组。结果：120例受检不育患者中，Y染色体基因微缺失11例，检出率9.2% (11/120)，其中AZFc区缺乏为10例；对照组130例中检出Y染色体基因微缺失1例，检出率0.8% (1/130)，此例为AZFc区缺乏。两组比较，对照组比实验组检出率显著降低，差异有统计学意义(P < 0.05)。实验组染色体核型异常检出率为4.2% (5/120)，对照组检出率0.8% (1/130)显著低于实验组，但差异无统计学意义(P > 0.05)。结论：在陕西地区男性不育患者中，Y染色体AZFc区缺失是最主要的遗传学因素，应提前完善精液常规检查，准确的病因诊断可指导临床医师正确地选择辅助生殖技术。

Abstract: Objective: Application and result analysis of chromosomal karyotype analysis and Y-chromosome microdeletions in the detection of male infertility patients were studied. Methods: A total of 120 male infertility patients with aspermia, asthenozoospermia and oligozoospermia in Shaanxi Province were selected, and the six sequence-tagged sit of Y chromosome AZF were detected by multiplex polymerase chain reaction (PCR) and Cytogenetic analysis was performed with the GTG banding technique. A total of 130 healthy men were treated as the control group. Result: Among 120 infertile patients tested, 11 cases had Y chromosome gene microdeletions, with a detection rate of 9.2% (11/120), including 10 cases with AZFc region deficiency; one case of Y chromosome gene microdeletion was detected in the control group of 130 cases, with a detection rate of 0.8% (1/130). This case is due to AZFc region deficiency. The detection rate of the control group was significantly lower than that of the experimental group, and the difference was statistically significant (P < 0.05). The detection rate of chromosomal karyotype abnormalities in the experimental group was 4.2% (5/120), while the detection rate in the control group was 0.8% (1/130), which was significantly lower than that in the experimental group, but the difference was not statistically significant (P > 0.05). Conclusion: In male infertility patients in Shaanxi region, the deletion of the Y chromosome AZFc region is the main genetic factor. Semen routine examination should be improved in advance, and accurate etiological diagnosis can guide clinical physicians to choose the correct assisted reproductive technology.