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目的:对无精症和少精子症患者进行外周血染色体及Y染色体微缺失检测,探讨生精功能障碍的遗传学机制,为临床治疗和遗传咨询提供参考。方法:运用细胞遗传学核型分析技术和多重PCR技术对133例生精功能障碍患者进行染色体核型分析和Y染色体AZF因子扩增,并以40例已生育男性作为对照组。结果:实验组中61例无精子症患者中,细胞遗传学核型数量异常13例,异常发生率21.31%,同时发现AZF微缺失6例,异常发生率9.84%;72例少精患者细胞遗传学核型异常11例,异常发生率15.28%,同时发现AZF微缺失7例,异常发生率9.72%。40例对照组Y染色体核型和AZF位点无缺失。结论:染色体异常和AZF的缺失是引起男性无精子和少精子并造成男性不育的重要原因之一,对男性不育人群进行细胞遗传学核型分析和AZF检测十分必要。
OBJECTIVE: To detect peripheral blood chromosomal and Y chromosome microdeletions in patients with azoospermia and oligospermia and explore the genetic mechanism of dysfunctional spermatogenesis, providing reference for clinical treatment and genetic counseling. Methods: Cytogenetic analysis and Y chromosome AZF factor amplification were performed in 133 cases of spermatogenic dysfunction by cytogenetics karyotyping and multiplex PCR. Forty pregnant women were used as control group. Results: In 61 cases of azoospermia in experimental group, the number of cytogenetic karyotype was abnormal in 13 cases and the abnormality rate was 21.31%. Six cases of AZF microdeletion were found, the abnormality rate was 9.84%. 72 cases of oligozoospermia 11 cases of karyotype abnormalities were found, the incidence of abnormalities was 15.28%, 7 cases of AZF microdeletions were found and the abnormality rate was 9.72%. 40 cases of control group Y chromosome karyotype and AZF loci without deletion. CONCLUSION: Chromosomal abnormalities and AZF deletion are one of the important causes of azoospermia and oligospermia in men and cause male infertility. Cytogenetic karyotyping and AZF detection of male infertility are necessary.