Two single nucleotide polymorphisms in PRDM9 (MEISETZ) gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest
Two single nucleotide polymorphisms in PRDM9 (MEISETZ) gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest
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DOI：
10.1007/s10815-008-9270-x
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发表时间：
2008-11-01
影响因子：
3.1
通讯作者：
Sengoku, Kazuo
中科院分区：
文献类型：
--
作者：
Miyamoto, Toshinobu;Koh, Eitetsu;Sengoku, Kazuo
目的 研究人 PRDM9、CDK2 和 PSMC3IP 的缺陷是否与无精子症相关。对因减数分裂停滞引起的无精子症的日本患者进行突变分析。使用来自 18 名日本患者的基因组 DNA，通过直接测序对人 PRDM9、CDK2 和 PSMC3IP 的编码区进行突变筛查。然后对患者和正常对照男性中检测到的编码单核苷酸多态性(cSNP)进行统计分析。在CDK2和PSMC3IP中检测到1个cSNP。患者组和对照组这两个基因的基因型分布和等位基因频率没有显着差异。然而，在 PRDM9 中检测到了三个新的 cSNP。 PRDM9的SNP2和SNP3杂合子的基因型和等位基因频率在患者组中显着高于对照组。我们通过减数分裂停滞发现PRDM9与无精子症之间可能存在关联。
To investigate whether defects in human PRDM9, CDK2 and PSMC3IP are associated with azoospermia Mutational analysis was performed in Japanese patients with azoospermia caused by meiotic arrest.Mutational screening of the coding regions of human PRDM9, CDK2 and PSMC3IP was done by direct sequencing using genomic DNA from 18 Japanese patients. Statistical analysis of the detected coding single nucleotide polymorphisms (cSNPs) in patients and normal control men was then carried out.One cSNP was detected in CDK2 and PSMC3IP. There were no significant differences in genotype distribution and allele frequencies between the patient and control groups in these two genes. However, three novel cSNPs were detected in the PRDM9. The genotype and allele frequencies of heterozygotes in SNP2 and SNP3 of PRDM9 were significantly higher in the patient group than in the control group.We found a possible association between PRDM9 and azoospermia by meiotic arrest.