| SPATA22基因多态性与中国汉族非梗阻性无精子症的易感性关联分析 |
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| 引用本文： | 查醒,贺小进,宋兵,杜卫东,张妍,阮健,吴欢,曹云霞.SPATA22基因多态性与中国汉族非梗阻性无精子症的易感性关联分析[J].安徽医科大学学报,2015(7):900-903. |
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| 作者姓名： | 查醒 贺小进 宋兵 杜卫东 张妍 阮健 吴欢 曹云霞 |
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| 作者单位： | 安徽医科大学 第一附属医院生殖医学中心,合肥,230022;安徽医科大学 第一附属医院生殖医学中心，合肥 230022;安徽医科大学 安徽省生命资源保存与人工器官工程技术研究中心，合肥 230022;安徽医科大学 省部共建重要遗传病基因资源利用重点实验室,合肥,230022 |
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| 摘 要： | 目的：探讨精子发生相关基因22( SPATA22)基因的7个标签单核苷酸多态性( SNP)位点多态性与中国汉族非梗阻性无精子症( NOA )的易感性的相关性。方法选取368例已生育的男性(对照组)和361例 NOA 患者(病例组)，应用 Sequenom MassArray 质谱阵列技术检测对照组和病例组 SPATA22基因7个标签SNPs的基因型。应用 Plink 1.07软件及 Haploview 软件对数据资料进行统计分析，比较对照组与病例组 SPATA22基因的最小等位基因频率( MAF)基因型及单体型的差异。结果 SPATA22基因7个标签SNPs的MAF、基因型及单体型在对照组与病例组间差异无统计学意义( P >0．05)。结论 SPATA22基因7个标签SNPs 位点多态性与中国汉族男性NOA的易感性可能不相关。
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| 关 键 词： | 不育症 非梗阻性无精子症 SPATA22 基因 单核苷酸多态性 |
Relationship of SPATA22 gene variants with non-obstructive azoospermia in Chinese Han population |
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| Abstract: | Objective To investigate the relationship of SPATA22 gene polymorphism with the risk of non-obstruc-tive azoospermia ( NOA) in Chinese Han population. Methods A total of 361 cases with idiopathic NOA and 368 males with normal fertility were collected. The genotypes distribution of seven single nucleotide polymorphisms ( SNPs) in SPATA22 were detected using Sequenom MassArray technique. Allele frequencies and genotype analysis between the control group and the case group were compared by using Plink 1. 07 software. Haplotype analysis was studied by Haploview Software. Results Between the case group and the control group, there was no significant difference in the allele frequencies of the seven SNPs ( P>0. 05 ) and no difference was observed between the case group and the control group in haplotype analysis ( P>0. 05 ) . Conclusion The seven SNPs of SPATA22 may not be associated with NOA in Chinese Han population. |
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| Keywords: | stertility non-obstructive azoospermia SPATA22 gene single nucleotide polymorphism |
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