Abstract：
Deletion of the azoospermia factor c (AZFc), located on the long arm of the Y chromosome, is a cause of male infertility. The structure of the Y chromosome is diversified by the copy number of various genes, such as deleted in azoospermia (DAZ), basic protein Y2, chromodomain Y1, testis-specific transcript Y-linked 4, and Golgi autoantigen golgin subfamily a2 like Y, located in the AZF region. In this study, we investigated the deletion of each gene copy and analyzed its relationship with Japanese male infertility. Deletions of single nucleotide variants of each gene copy in 721 proven fertile men as controls, 139 patients with non-obstructive azoospermia (NOA), and 56 patients with oligozoospermia (OS) were analyzed via polymerase chain reaction-restriction fragment length polymorphism analysis. Their association with infertility was analyzed using logistic regression analysis adjusted for the Y-chromosome haplogroup, D1a2a. Deletions of DAZ/II in the r1 region and DAZ/V in the r1 and r2 regions showed significant associations with NOA (odds ratio [OR] = 4.15, 95 % confidence interval [CI] = 1.18-14.6, P = 0.026; OR = 4.19, 95 % CI = 1.19-14.7, P = 0.025, respectively). They did not show any association with OS. Partial deletion of the AZFc region affects spermatogenesis in Japanese male.
摘要：
缺失无精子症因子c（AZFc），位于Y染色体的长臂上，是男性不育的原因。Y染色体的结构因各种基因的拷贝数而多样化，如在无精子症(DAZ)中删除，碱性蛋白Y2，色域Y1，睾丸特异性转录物Y连锁4和高尔基体自身抗原golgin亚家族a2样Y，位于AZF地区。在这项研究中,我们调查了每个基因拷贝的缺失，并分析了其与日本男性不育的关系。在721个被证明有生育能力的男性中，每个基因拷贝的单核苷酸变异的缺失作为对照，139例非梗阻性无精子症（NOA），通过聚合酶链反应-限制性片段长度多态性分析对56例少精子症（OS）患者进行了分析。使用针对Y染色体单倍群进行调整的逻辑回归分析，分析了它们与不孕症的关联。D1a2a.r1区域的DAZ/II缺失和r1和r2区域的DAZ/V缺失与NOA显著相关(比值比[OR]=4.15,95%置信区间[CI]=1.18-14.6,P=0.026;OR=4.19,95%CI=1.19-14.7,P=0.025)。他们没有显示与操作系统的任何关联。AZFc区的部分缺失影响日本男性的精子发生。
