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目的探讨染色体数目和结构异常,以及Y染色体无精子因子基因拷贝缺失与男性不育的关系。方法利用染色体G显带和PCR检测技术,对209例无精症和少弱精症患者进行外周血染色体检查,对在染色体核型分析中Y染色体部分缺失患者5例,11例小Y患者,以及1例Y染色体数目和结构均有异常的嵌合体患者,共17例进行Y染色体微缺失检测。结果共发现染色体异常核型71例,占34.9%。Y染色体微缺失患者4例。结论在无精症和少弱精症患者中存在较高频率染色体数目和结构异常,以及无精子因子基因拷贝缺失,遗传因素是造成男性不育的重要因素。
Objective To investigate the relationship between chromosome number and structural abnormalities, and the lack of copy of Y chromosome Azoospermia gene deletion and male infertility. Methods Chromosome G banding and PCR detection of 209 cases of azoospermia and oligospermia in patients with peripheral chromosomal examination of chromosome karyotype analysis Y chromosome partial deletion in patients with 5 cases, 11 cases of small Y patients, As well as a chimera patient with aberrant Y chromosome number and structure. A total of 17 patients were tested for Y chromosome microdeletion. Results A total of 71 cases of chromosomal abnormalities were found, accounting for 34.9%. 4 patients with Y chromosome microdeletions. Conclusion There is a high frequency of chromosomal number and structural abnormalities in patients with azoospermia and oligoasthenospermia, as well as the lack of copy of the gene without sperm factor. Genetic factors are the important factors that cause male infertility.