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首页> 外文期刊>Molecular human reproduction. >Gene copy number alterations in the azoospermia-associated AZFc region and their effect on spermatogenic impairment
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Gene copy number alterations in the azoospermia-associated AZFc region and their effect on spermatogenic impairment

机译：基因拷贝数在唑类血症相关的AZFC地区的改变及其对精子遗传障碍的影响

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摘要

The azoospermia factor c (AZFc) region in the long arm of human Y chromosome is characterized by massive palindromes. It harbors eight multi-copy gene families that are expressed exclusively or predominantly in testis. To assess systematically the role of the AZFc region and these eight gene families in spermatogenesis, we conducted a comprehensive molecular analysis (including Y chromosome haplogrouping, AZFc deletion typing and gene copy quantification) in 654 idiopathic infertilemen and 781 healthy controls in a Han Chinese population. The b2/b3 partial deletion (including both deletion-only and deletion-duplication) was consistently associated with spermatogenic impairment. In the subjects without partial AZFc deletions, a notable finding was that the frequency of DAZ and/or BPY2 copy number alterations in the infertile groupwas significantly higher than in the controls. Combined patterns of DAZ and/or BPY2 copy number abnormality were associated with spermatogenic impairment when compared with the pattern of all AZFc genes with common level copies. In addition, in Y chromosome haplogroup O1 (Y-hg O1), the frequency of copy number alterations of all eight gene families was significantly higher in the case group than that in the control group. Our findings indicate that the DAZ, BPY2 genes may be prominent players in spermatogenesis, and genomic rearrangements may be enriched in individuals belonging to Y-hg O1. Our findings emphasize the necessity of routine molecular analysis of AZFc structural variation during the workup of azoospermia and/or oligozoospermia, which may diminish the genetic risk of assisted reproduction.
机译：人Y染色体长臂中的偶氮孢子症C（AZFC）区域的特征在于大规模的回文。它留出八个多拷贝基因系列，其专门或主要在睾丸中表达。系统地评估AZFC地区和这八个基因家族在精子发生中的作用，我们在汉族人群中进行了综合分子分析（包括Y染色体Haplogrouping，AZFC缺失分类和基因拷贝量化）和781个健康对照。 B2 / B3部分缺失（包括仅缺失和缺失和删除重复）始终如一与精子遗传损伤相关。在没有部分AZFC缺失的受试者中，一个值得注意的发现是，达到的DAZ和/或BPY2拷贝数改变的频率明显高于控制。与所有AZFC基因的模式相比，DAZ和/或BPY2拷贝数异常的组合模式与普通级拷贝的所有AZFC基因的模式相比有关。此外，在Y染色体Haplogroup O1（Y-Hg O1）中，壳体组中所有八个基因家族的拷贝数改变的频率明显高于对照组中的含量显着高。我们的研究结果表明，DAZ，BPY2基因可能是精子发生中突出的球员，并且可以富集基因组重排在属于Y-HG O1的个体中。我们的研究结果强调了在唑普满疟疾和/或少菌血症患者的余下工作期间常规分子分子分析的必要性，这可能会减少辅助繁殖的遗传风险。

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  • 来源
    《Molecular human reproduction.》 |2014年第10期|共8页
  • 作者

    LuC.; JiangJ.; ZhangR.; WangY.; XuM.; QinY.; LinY.; GuoX.; NiB.; ZhaoY.; DiaoN.; ChenF.; ShenH.; ShaJ.; XiaY.; HuZ.; WangX.;

  • 作者单位

    State Key Laboratory of Reproductive Medicine Institute of Toxicology Nanjing Medical University;

    State Key Laboratory of Reproductive Medicine Institute of Toxicology Nanjing Medical University;

    Key Laboratory of Modern Toxicology of Ministry of Education School of Public Health Nanjing;

    State Key Laboratory of Reproductive Medicine Institute of Toxicology Nanjing Medical University;

    State Key Laboratory of Reproductive Medicine Institute of Toxicology Nanjing Medical University;

    State Key Laboratory of Reproductive Medicine Institute of Toxicology Nanjing Medical University;

    State Key Laboratory of Reproductive Medicine Institute of Toxicology Nanjing Medical University;

    State Key Laboratory of Reproductive Medicine Institute of Toxicology Nanjing Medical University;

    State Key Laboratory of Reproductive Medicine Institute of Toxicology Nanjing Medical University;

    Department of Epidemiology and Biostatistics School of Public Health Nanjing Medical University;

    Department of Environmental Health Harvard School of Public Health Harvard University Boston MA;

    Department of Epidemiology and Biostatistics School of Public Health Nanjing Medical University;

    State Key Laboratory of Reproductive Medicine Institute of Toxicology Nanjing Medical University;

    State Key Laboratory of Reproductive Medicine Institute of Toxicology Nanjing Medical University;

    State Key Laboratory of Reproductive Medicine Institute of Toxicology Nanjing Medical University;

    State Key Laboratory of Reproductive Medicine Institute of Toxicology Nanjing Medical University;

    State Key Laboratory of Reproductive Medicine Institute of Toxicology Nanjing Medical University;

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  • 正文语种 eng
  • 中图分类 呼吸生理;
  • 关键词

    javax.sql.rowset.serial.SerialClob@1293b41;

    机译：Java小.SQL.row set.serial.serial cl OB@1293不41;

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