The poly(A) polymerase beta gene may not be associated with azoospermia caused by Sertoli-cell-only syndrome in Japanese patients by comparing patients and normal controls.
The poly(A) polymerase beta gene may not be associated with azoospermia caused by Sertoli-cell-only syndrome in Japanese patients by comparing patients and normal controls.
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通过比较患者和正常对照，聚腺苷酸聚合酶β基因可能与日本患者仅支持细胞综合征引起的无精子症无关。
DOI：
10.1080/01443615.2018.1504205
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发表时间：
2019
期刊：
影响因子：
--
通讯作者：
Sengoku K.
中科院分区：
文献类型：
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作者：
Miyamoto T;Shin T;Iijima M;Minase G;Okada H;Saijo Y;Sengoku K.
大约15%的夫妇是不育的，其中一半是由于男性因素。睾丸特异性细胞质聚腺苷酸聚合酶β（PAPOLB）是精子发生的关键。在小鼠中，Papolb基因功能的丧失导致精子生成停滞和雄性不育。为了分析PAPOLB基因在人类男性不育中的作用，本研究探讨了该基因与人类无精子症的支持细胞综合征（SCOS）的相关性。通过PCR和直接序列分析对139名日本患者进行PAPOLB编码区突变分析。未检测到直接导致SCOS的关键突变，但在编码区发现3个单核苷酸多态性（SNPs; SNP 1（c1101 C> T）、SNP 2（c1347 T> C）和SNP 3（c1903 C> A））。然而，在SCOS组和对照组之间，这三个SNPs的等位基因和基因型分布没有显著关联（p> 0.05）。这项研究表明PAPOLB与人类SCOS引起的无精子症缺乏相关性。
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.