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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 1 0 0例无精症和严重少精症患者 (其中无精症 72例 ,严重少精症 2 8例 )进行 Y染色体 AZFa、AZFb、AZFc/DAZ、SRY的微缺失检测。结果 :1 2例患者 (1 2 % )有 AZFc的微缺失 (其中无精症 8例 ,占 1 1 .1 % ;严重少精症 4例 ,占 1 4.3% ) ,且其中 1例无精症患者为 AZFb、AZFc双重缺失 ;所有病例未发现有 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无 AZFa、AZFb、AZFc、SRY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 ,在进行遗传咨询和行卵细胞质内注入精子术 (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 idiopathic azoospermia and severe oligozoospermia and Y chromosome microdeletion, to establish a molecular detection method for Y chromosome microdeletion in patients with azoospermia and severe oligozoospermia. Methods: A total of 100 cases of patients with azoospermia and severe oligozoospermia (including 72 cases of azoospermia and 28 cases of severe oligozoospermia) were analyzed by PCR. Microdeletions of AZFa, AZFb, AZFc / DAZ and SRY Detection. RESULTS: A total of 12 patients (12%) had microdeletions of AZFc (8 cases of azoospermia, 11.1% of them, 4 cases of severe oligozoospermia, accounting for 1 4.3%), and 1 of them Patients with AZFb, AZFc double deletion; AZFa deletion was not found in all cases; SRY gene PCR amplification were positive. There were no AZFa, AZFb, AZFc and SRY microdeletions in 60 cases of normal male fertility. Conclusion: The deletion of Y chromosome, especially AZFc / DAZ, is one of the important causes of infertility and infertility caused by severe oligozoospermia. During genetic counseling and intracytoplasmic sperm injection (ICSI) It is necessary to carry out molecular detection of Y chromosome microdeletions in patients with unexplained infertility