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在非整倍体水平升高的可育个体和不育患者的精子细胞中,15号、18号染色体以及X、Y染色体着丝粒的定位。

Positioning of chromosome 15, 18, X and Y centromeres in sperm cells of fertile individuals and infertile patients with increased level of aneuploidy.

作者信息

Olszewska Marta, Wiland Ewa, Kurpisz Maciej

机构信息

Institute of Human Genetics, Polish Academy of Sciences, ul. Strzeszyńska 32, 60-479, Poznań, Poland.

出版信息

Chromosome Res. 2008;16(6):875-90. doi: 10.1007/s10577-008-1246-2. Epub 2008 Aug 15.

Abstract

Evidence has been accumulating that individual chromosomes in human sperm cells occupy defined, non-random positions. Our earlier study suggested that abnormal spermatogenesis in carriers of reciprocal translocations was reflected in the changes in the intranuclear topology of sperm chromosomes. The purpose of this study was to determine whether the increased level of disomy of sperm chromosomes may be the factor that can disturb topology within the sperm nuclei. The results obtained indicated that within the sperm nuclei of fertile individuals the centromeres of chromosomes 15, 18, X and Y were localized in a small area that may be a fragment of the chromocentre. When compared with the intranuclear positions of the same chromosomes in sperm nuclei of infertile patients with an increased level of aneuploidy, some disturbances in the centromere area were found. In disomic sperm cells (n + 1) centromeres 15,15 or 18,18 or YY (but not X,X) had a shifted average longitudinal position in comparison with normal sperm cells (n = 23).

摘要

越来越多的证据表明,人类精子细胞中的单个染色体占据特定的、非随机的位置。我们早期的研究表明,相互易位携带者的异常精子发生反映在精子染色体内核拓扑结构的变化上。本研究的目的是确定精子染色体二体性水平的升高是否可能是扰乱精子核内拓扑结构的因素。所得结果表明,在可育个体的精子核内,15号、18号、X和Y染色体的着丝粒定位在一个小区域内,该区域可能是染色中心的一个片段。与非整倍体水平升高的不育患者精子核中相同染色体的核内位置相比,发现着丝粒区域存在一些紊乱。与正常精子细胞(n = 23)相比,在二体精子细胞(n + 1)中,15、15或18、18或YY(但不是X、X)着丝粒的平均纵向位置发生了偏移。

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