论文部分内容阅读
目的 研究特发性无精症和严重少精症患者与Y染色体微缺失或突变的关系 ,建立无精症和严重少精症患者Y染色体微缺失的分子检测方法。方法 应用PCR技术对 10 1例无精症和严重少精症患者 (其中无精症 73例 ,严重少精症 2 8例 )进行Y染色体AZFa(sY84和USP9Y)、AZFb、AZFc/DAZ、SRY的微缺失或突变检测。结果 12例患者 (12 %)有AZFc的微缺失 (其中无精症 8例占 11%,严重少精症 4例占 14 3%) ,其中 1例无精症患者为AZFb、AZFc的双重缺失 ;而未发现有AZFa的缺失 ;SRY基因PCR扩增均为阳性。 6 0例已有生育的正常男性均未有AZFa、AZFb、AZFc、SRY的微缺失。结论 Y染色体微缺失 ,特别是AZFc/DAZ的缺失是引起无精和严重少精、造成男性不育的重要原因之一 ,在进行遗传咨询和ICSI时 ,有必要对不明原因的不育男性患者进行Y染色体微缺失的分子检测。
Objective To study the relationship between Y-chromosome microdeletions and mutations in patients with idiopathic and severe oligzoospermia and to establish a molecular detection method for Y-chromosome microdeletions in patients with azoospermia and severe oligzoospermia. Methods A total of 101 cases of patients with azoospermia and severe oligozoospermia (73 cases of azoospermia and 28 cases of severe oligozoospermia) were enrolled in this study. The Y chromosome AZFa (sY84 and USP9Y), AZFb, AZFc / DAZ, SRY Microdeletion or mutation detection. Results 12 patients (12%) had AZFc microdeletions (8 cases of azoospermia accounted for 11%, 4 cases of severe oligozoospermia 14 3%), of which 1 case of patients with azoospermia AZFb, AZFc double deletion ; No deletion of AZFa was found; PCR amplification of SRY gene was positive. There were no microdeletion of AZFa, AZFb, AZFc and SRY in 60 normal male fertility patients. Conclusion Y chromosome microdeletions, especially the loss of AZFc / DAZ, are one of the important causes of infertility and severe infertility. In the process of genetic counseling and ICSI, it is necessary to investigate the relationship between the deletion of AZFc / DAZ and unexplained infertile men Molecular detection of Y chromosome microdeletion.