466例不良孕产史夫妇的细胞遗传学与临床特征分析

目的探讨染色体异常与不良孕产史的关系。方法选取466例不良孕产史夫妇,采集其外周血进行淋巴细胞培养及G显带方法分析其染色体核型。80例健康婚检夫妇为对照组。结果 466例不良孕产史夫妇中发生染色体畸变者14例,检出率3.0%,其中结构异常10例,数目异常4例,染色体多态性携带者的检出率13.52%(63/466)。健康婚检夫妇的畸变染色体检出率为1.25%(1/80),比不良孕产夫妇的畸变染色体检出率低,但差异无统计学意义(χ^2=0.874,P>0.05)。染色体多态性携带者检出率为5%(4/80),显著低于不良孕产史夫妇,差异有统计学意义(χ^2=5.082,P<0.05)。结论染色体畸变和染色体多态性是不良孕产的重要因素。

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

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)。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。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). 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.

男性不育患者Y染色体AZF基因微缺失检测和染色体核型分析

目的探讨男性不育的遗传因素。方法采用多重荧光定量PCR方法对60例严重少、弱精症和无精症的不育患者进行Y染色体AZF基因微缺失检测,同时用G显带方法分析染色体核型。结果 60例患者中有5例染色体核型异常,检出率为8.33%,且异常核型均为47,XXY,即克氏综合征。Y染色体AZF基因微缺失检出2例患者,检出率为3.33%,缺失类型均为AZFc区缺失。30例精液常规正常的健康志愿者未检出Y染色体AZF基因缺失。结论染色体核型异常及Y染色体AZF基因微缺失与男性不育密切相关,且克氏综合征和AZFc区缺失为常见的异常类型。