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目的:近年来,Y染色体长臂无精子症因子(AZF)微缺失与男性不育关系的研究已经取得了很大的进展。然而,AZF微缺失的形成机理及各种缺失类型与临床表型之间的关系还不十分确定。本研究的目的是探讨中国不育男性的Y染色体微缺失的发生率、缺失类型以及基因型与表型之间的关系。方法:本研究对2005年至2009年本院男科门诊502例非梗阻性无精子症和306例严重少精子症的不育男性进行Y染色体AZF缺失分析。结果:AZF总体缺失率为7.80%(63/808),其中无精子症不育男性缺失率为9.16%(46/502),严重少精症患者为5.56%(17/306)。完全的AZFa缺失或AZFb缺失患者的精液中均没有成熟精子,而AZFc缺失的表型是多样化的。1例部分AZFb缺失患者有成熟精子发生,精子密度呈轻度进行下降。最常见的缺失类型为AZFc b2/b4亚型,占60.32%(38/63),其中39.47%(15/38)的患者精液中能发现成熟精子,其中1例为自然遗传的AZFc b2/b4缺失。63例缺失患者中仅1例AZFc b2/b4缺失患者的精子密度超过2×109/L。结论:AZF微缺失对精子发生障碍具有良好的诊断和评估价值。对Y染色体微缺失的大样本临床研究有利于进一步明确基因型与表型的关系,更好地理解AZF缺失的机制。
OBJECTIVE: In recent years, great progress has been made in the study of the relationship between the deletion of Y chromosome long arm azoospermia factor (AZF) and male infertility. However, the relationship between the formation mechanism of AZF microdeletions and the various types of deletions and clinical phenotypes is not yet well established. The purpose of this study was to investigate the incidence of Y-chromosome microdeletion in Chinese infertile men, the type of deletion, and the relationship between genotypes and phenotypes. Methods: This study analyzed Y chromosome AZF deletion in 502 male infertile men with non-obstructive azoospermia and 306 severe oligozoospermia in our male outpatient department from 2005 to 2009. Results: The overall deletion rate of AZF was 7.80% (63/808). Among them, the rate of AZS deletion was 9.16% (46/502) and that of severe oligospermia was 5.56% (17/306). There was no mature sperm in the semen of patients with complete AZFa deletion or AZFb deficiency, whereas the phenotype of AZFc deletion was diverse. One patient with partial AZFb deletion had mature spermatozoa, and the sperm density decreased slightly. The most common type of AZFc b2 / b4 subtype was 60.32% (38/63), of which 39.47% (15/38) had mature sperm, of which 1 was naturally inherited AZFc b2 / b4 Missing. Only one of 63 patients with missing AZFc b2 / b4 deletion in patients with sperm density more than 2 × 109 / L. Conclusion: AZF microdeletions have good diagnostic and evaluation value for spermatogenesis disorders. A large sample clinical study of Y chromosome microdeletions is helpful to further clarify the relationship between genotypes and phenotypes and to better understand the mechanism of AZF deletion.