| 人类性染色体拟常染色体区的研究进展 |
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| 引用本文： | 闫彧,白雪,邢万金.人类性染色体拟常染色体区的研究进展[J].生命的化学,2014(4):521-526. |
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| 作者姓名： | 闫彧 白雪 邢万金 |
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| 作者单位： | 内蒙古大学生命科学学院生物学系,呼和浩特010021 |
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| 基金项目： | 高等学校博士学科点专项科研基金联合资助课题（20121501110001）内蒙古自然科学基金项目（2012MS0401）内蒙古大学本科生创新基金项目. |
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| 摘 要： | 拟常染色体区是性染色体上的重要区域,对于维持性染色体结构与功能、保证性染色体在减数分裂过程中正常配对与分离具有重要意义。拟常染色体区与常染色体结构与功能的异同点也为了解性染色体的起源与进化提供了很好的材料。人类的拟常染色体区由PAR1和PAR2两个区域组成,这两个区域在结构上有明显不同。位于其上的基因虽然不多,但与许多遗传疾病相关,详细研究该区的基因与疾病的关系还有助于尽早诊断并防治与之相关的遗传疾病。本文全面综述了人类性染色体拟常染色体区的最新研究进展。
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| 关 键 词： | 拟常染色体区 人类性染色体 遗传疾病 |
Research progress of human sex chromosomal pseudoautosomal regions |
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| YAN Yu,BAI Xue,XING Wanjin.Research progress of human sex chromosomal pseudoautosomal regions[J].Chemistry of Life,2014(4):521-526. |
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| Authors: | YAN Yu BAI Xue XING Wanjin |
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| Institution: | (Department of Biology, School of Life Sciences, Inner Mongolia University, Hohhot 010021, China) |
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| Abstract: | The pseudoautosomal regions （PARs） are important regions in sex chromosomes for maintenanceof the structure and function and ensurance of proper pairing and segregation of sex chromosomes duringmeiosis. The structural and functional similarities and differences between PARs and autosomes provide ap-propriate materials for understanding the origin and evolution of sex chromosomes. Human PARs consist ofPAR1 and PAR2, with a certain of different structural details. Although there are only a few genes in humanPARs, these genes have a close relation to many inherited diseases. Detailed study of the relationship of thegenes located in PAR with the diseases will contribute to earlier diagnosis and preventive treatment of somehereditary diseases. This paper presents a comprehensive review on human PARs. |
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| Keywords: | pseudoautosomal region human sex chromosome inherited disease |
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