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Relationship of SNP of H2BFWT gene to male infertility in a Chinese population with idiopathic spermatogenesis impairment

机译:H2BFWT基因SNP与特发性精子发生障碍中国人群男性不育的关系

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摘要

The H2B family, member W, testis specific (H2BFWT) gene encodes a testis specific histone that plays a crucial role in reorganization and remodeling of chromatin and epigenetic regulation during spermatogenesis, suggesting that the gene may be involved in spermatogenesis impairment. To test the speculation, the allele and haplotype frequencies of two single-nucleotide polymorphism loci in this gene, -9C>T and 368A>G, were investigated in 409 infertile patients with idiopathic azoospermia or oligozoospermia and 209 fertile men as controls using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assay. As the results, the frequencies of-9T (52.8% vs. 41.6%, p = 0.009) and 368G (43.0% vs. 32.5%, p = 0.012) were significantly higher in patients than those in controls; after stratifying patients, the significant higher frequencies were still detected in allele -9Tfor azoospermia (57.4% vs. 41.6%, p = 0.001) and allele 368G for oligozoospermia (45.4% vs. 32.5%, p = 0.007). The haplotype CA was significantly decreased (22.8% vs. 33.0%, p = 0.006) whereas TG was significantly increased (18.3% vs. 7.2%, p < 0.001) in infertile patients compared with controls. These results indicated that the polymorphism -9C>T and 368A>G in H2BFWT gene are associated with male infertility with idiopathic azoospermia or oligozoospermia, suggesting that H2BFWT gene might be contribute to susceptibility to spermatogenesis impairment in Chinese population.
机译:H2B家族,成员W,睾丸特异性(H2BFWT)基因编码睾丸特异性组蛋白,在精子发生过程中染色质的重组和重塑以及表观遗传调控中起着关键作用,表明该基因可能与精子发生障碍有关。为了检验推测,使用聚合酶链法对409名特发性无精子症或少精子症的不育患者和209名可育男性作为对照,研究了该基因中的两个单核苷酸多态性基因座-9C> T和368A> G的等位基因和单倍型频率。反应限制片段长度多态性(PCR-RFLP)分析。结果,患者的9T频率(52.8%vs. 41.6%,p = 0.009)和368G(43.0%vs. 32.5%,p = 0.012)显着高于对照组。在对患者进行分层后,无精子症的等位基因-9T(57.4%vs. 41.6%,p = 0.001)和少精子症的等位基因368G(45.4%vs. 32.5%,p = 0.007)仍显着更高。与对照组相比,不育患者的单倍型CA显着降低(22.8%vs. 33.0%,p = 0.006),而TG显着升高(18.3%vs. 7.2%,p <0.001)。这些结果表明H2BFWT基因的多态性-9C> T和368A> G与特发性无精子症或少精子症的男性不育有关,这表明H2BFWT基因可能对中国人群的精子发生障碍易感性。

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  • 来源
    《Biomarkers》 |2012年第5期|p.402-406|共5页
  • 作者单位

    Department of Genetics, College of Agriculture and Biology, Dali University, Dali, China,College of Basic Medicine, Dali University, Dali, China;

    Department of Genetics, College of Agriculture and Biology, Dali University, Dali, China,Institute of Eastern Himalaya Biodiversity Research, Dali University, Dali, China;

    Department of Genetics, College of Agriculture and Biology, Dali University, Dali, Yunnan, 671003, China;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类
  • 关键词

    H2BFWT; single-nucleotide polymorphism; male infertility; spermatogenesis impairment;

    机译:H2BFWT;单核苷酸多态性男性不育精子发生障碍;

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