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正常男性精子非整倍体频率的个体内和个体间差异。

Intra-individual and inter-individual variations in sperm aneuploidy frequencies in normal men.

作者信息

Tempest Helen G, Ko Evelyn, Rademaker Alfred, Chan Peter, Robaire Bernard, Martin Renée H

机构信息

Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.

出版信息

Fertil Steril. 2009 Jan;91(1):185-92. doi: 10.1016/j.fertnstert.2007.11.002. Epub 2008 Apr 28.

Abstract

OBJECTIVE

To investigate whether there are intra-individual and/or inter-individual variations in sperm aneuploidy frequencies within the normal male population, and, if this is the case, whether they are sporadic or time-stable variants.

DESIGN

Prospective study.

SETTING

University research laboratory.

PATIENT(S): Ten men aged 18-32 years.

INTERVENTION(S): None.

MAIN OUTCOME MEASURE(S): Fluorescence in situ hybridization was used to investigate sperm aneuploidy frequencies for chromosomes X, Y, 13, and 21 in serial semen samples collected over a period of 12-18 months.

RESULT(S): Intra-individual and inter-individual variations were investigated by comparing serial samples from the same donor and by comparing the donors with each other, respectively. Intra-individual variations were found in all 10 donors for at least one investigated chromosome; variations tended to be sporadic events affecting only one time point. Inter-individual variations were found for all chromosomes (except XX and YY disomy and disomy 21), with three men identified as stable variants, consistently producing higher levels of aneuploidy for at least one of the following aneuploidies: sex chromosome nullisomy; disomy 13, or diploidy.

CONCLUSION(S): These results suggest that there are a number of factors and mechanisms that have the potential to sporadically or consistently affect sperm aneuploidy.

摘要

目的

研究正常男性群体中精子非整倍体频率是否存在个体内和/或个体间差异,以及如果存在这种差异,它们是偶发变异还是时间稳定变异。

设计

前瞻性研究。

地点

大学研究实验室。

患者

10名年龄在18 - 32岁的男性。

干预措施

无。

主要观察指标

采用荧光原位杂交技术,对在12 - 18个月期间采集的系列精液样本中的X、Y、13和21号染色体的精子非整倍体频率进行研究。

结果

分别通过比较同一供体的系列样本以及相互比较供体来研究个体内和个体间差异。在所有10名供体中,至少有一条被研究染色体存在个体内差异;这些差异往往是仅影响一个时间点的偶发事件。所有染色体(除XX和YY二体及21号染色体二体外)均存在个体间差异,有三名男性被确定为稳定变异体,至少在以下一种非整倍体类型中持续产生较高水平的非整倍体:性染色体缺体;13号染色体二体或二倍体。

结论

这些结果表明,有许多因素和机制有可能偶发或持续影响精子非整倍体。

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