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通过多色荧光原位杂交技术评估人类精子中父亲年龄、性别比例和非整倍体频率之间的关系。

The relationship between paternal age, sex ratios, and aneuploidy frequencies in human sperm, as assessed by multicolor FISH.

作者信息

Martin R H, Spriggs E, Ko E, Rademaker A W

机构信息

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

出版信息

Am J Hum Genet. 1995 Dec;57(6):1395-9.

Abstract

We studied the frequencies of X- and Y-chromosome-bearing sperm, diploidy and disomy for chromosomes 1, 12, X, and Y in sperm from 10 normal men aged 21-52 years, to determine whether there was any relationship between donor age and any of these variables. Multicolor FISH was used to control for lack of probe hybridization and to distinguish diploid sperm from disomic sperm. A minimum of 10,000 sperm per donor was evaluated for each chromosome, for a total of 225,846 sperm studied. Sperm were considered disomic if two fluorescent signals were separated by a minimal distance of one signal domain. The mean frequencies of X- and Y-bearing sperm were 50.1% and 49.0%, respectively; not significantly different from 50%. There was no correlation between paternal age and "sex ratio" in sperm. Similarly, there was no association between the frequency of diploid sperm (mean, .16%; range, .06-.42%) and donor age. For disomy frequencies, there was no relationship between donor age and disomy 12 (mean, .16%; range, .10%-.25%), XX (mean, .07%; range, .03%-.17%), and XY sperm (mean, .16%; range, .08%-.24%). There was a significant increase in the frequency of YY sperm (P = .04; mean, .18%; range, .10%-.43%) and disomy 1 sperm (P = .01; mean, .11%; range, .05%-.18%) with donor age. In summary, our results do not support a correlation between paternal age and sex ratio or diploidy.

摘要

我们研究了10名年龄在21至52岁之间的正常男性精子中携带X和Y染色体的频率、1号、12号、X和Y染色体的二倍体和三体性,以确定供体年龄与这些变量之间是否存在任何关系。采用多色荧光原位杂交技术来控制探针杂交失败的情况,并区分二倍体精子和三体精子。每个供体每种染色体至少评估10000个精子,共研究了225846个精子。如果两个荧光信号之间的最小距离为一个信号域,则精子被认为是三体的。携带X和Y染色体精子的平均频率分别为50.1%和49.0%;与50%无显著差异。父亲年龄与精子“性别比”之间无相关性。同样,二倍体精子频率(平均为0.16%;范围为0.06% - 0.42%)与供体年龄之间也无关联。对于三体频率,供体年龄与12号染色体三体(平均为0.16%;范围为0.10% - 0.25%)、XX三体(平均为0.07%;范围为0.03% - 0.17%)和XY精子三体(平均为0.16%;范围为0.08% - 0.24%)之间均无关系。随着供体年龄的增加,YY精子频率(P = 0.04;平均为0.18%;范围为0.10% - 0.43%)和1号染色体三体频率(P = 0.01;平均为0.11%;范围为0.05% - 0.18%)显著增加。总之,我们的结果不支持父亲年龄与性别比或二倍体之间存在相关性。

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