Miyamoto T, Shin T, Iijima M, Minase G, Okada H, Saijo Y, Sengoku K
a Department of Obstetrics and Gynecology , Asahikawa Medical University , Asahikawa , Japan.
b Department of Urology , Dokkyo Medical University Koshigaya Hospital , Koshigaya , Japan.
J Obstet Gynaecol. 2019 Apr;39(3):434-436. doi: 10.1080/01443615.2018.1504205. Epub 2019 Feb 11.
Approximately 15% of couples are infertile, with half of these cases being due to a male factor. Testis-specific cytoplasmic poly(A) polymerase beta (PAPOLB) is known to be critical for spermatogenesis. In mice, the loss of function of the Papolb gene results in the arrest of spermiogenesis and in male infertility. To analyse the role of the PAPOLB gene in human male infertility, this study investigated the relevance of this gene to human Sertoli-cell-only syndrome (SCOS) with azoospermia. Mutation analysis of the PAPOLB coding region was performed on 139 Japanese patients by PCR and direct sequence analysis. No critical mutations directly causing SCOS were detected, but three single-nucleotide polymorphisms (SNPs; SNP1 (c1101C > T), SNP2 (c1347T > C) and SNP3 (c1903C > A)) were found in the coding region. However, there were no significant associations in the allelic and genotypic distributions of these three SNPs between the SCOS and control groups (p>.05). This study suggests a lack of association of PAPOLB with azoospermia due to SCOS in humans.
约15%的夫妇患有不孕症，其中一半病例是由男性因素导致的。已知睾丸特异性胞质多聚腺苷酸聚合酶β（PAPOLB）对精子发生至关重要。在小鼠中，Papolb基因功能丧失会导致精子形成停滞和雄性不育。为了分析PAPOLB基因在人类男性不育中的作用，本研究调查了该基因与人类无精子症的唯支持细胞综合征（SCOS）的相关性。通过聚合酶链反应（PCR）和直接序列分析，对139名日本患者的PAPOLB编码区进行了突变分析。未检测到直接导致SCOS的关键突变，但在编码区发现了三个单核苷酸多态性（SNP；SNP1（c1101C>T）、SNP2（c1347T>C）和SNP3（c1903C>A））。然而，这三个SNP的等位基因和基因型分布在SCOS组和对照组之间没有显著关联（p>0.05）。本研究表明，在人类中，PAPOLB与SCOS导致的无精子症缺乏关联。
