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本文引用的文献

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Non-disjunction in human sperm: evidence for an effect of increasing paternal age.人类精子中的染色体不分离:父亲年龄增长产生影响的证据。
Hum Mol Genet. 1995 Dec;4(12):2227-32. doi: 10.1093/hmg/4.12.2227.
2
Increased incidence of hyperhaploid 24,XY spermatozoa detected by three-colour FISH in a 46,XY/47,XXY male.通过三色荧光原位杂交技术在一名46,XY/47,XXY男性中检测到超单倍体24,XY精子发生率增加。
Hum Genet. 1996 Feb;97(2):171-5. doi: 10.1007/BF02265260.
3
The relationship between paternal age, sex ratios, and aneuploidy frequencies in human sperm, as assessed by multicolor FISH.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。
Am J Hum Genet. 1995 Dec;57(6):1395-9.
4
Sperm nuclei analysis of a Robertsonian t(14q21q) carrier, by FISH, using three plasmids and two YAC probes.利用三种质粒和两种酵母人工染色体(YAC)探针,通过荧光原位杂交(FISH)对一名罗伯逊易位t(14q21q)携带者的精子细胞核进行分析。
Hum Genet. 1995 Dec;96(6):655-60. doi: 10.1007/BF00210294.
5
Detection of aneuploidy in human interphase spermatozoa by fluorescence in situ hybridization (FISH).通过荧光原位杂交(FISH)检测人类间期精子中的非整倍体。
Cytogenet Cell Genet. 1993;64(1):23-6. doi: 10.1159/000133552.
6
Detection of aneuploid human sperm by fluorescence in situ hybridization: evidence for a donor difference in frequency of sperm disomic for chromosomes 1 and Y.通过荧光原位杂交检测非整倍体人类精子:1号染色体和Y染色体精子二体频率存在供体差异的证据。
Am J Hum Genet. 1993 Apr;52(4):799-807.
7
Aneuploidy detection in human sperm nuclei using fluorescence in situ hybridization.利用荧光原位杂交技术检测人类精子细胞核中的非整倍体
Hum Genet. 1993 Mar;91(1):20-4. doi: 10.1007/BF00230216.
8
Non-disjunction in human sperm: results of fluorescence in situ hybridization studies using two and three probes.人类精子中的不分离现象:使用两种和三种探针的荧光原位杂交研究结果
Hum Mol Genet. 1993 Nov;2(11):1929-36. doi: 10.1093/hmg/2.11.1929.
9
Numerical chromosome abnormalities in spermatozoa of fertile and infertile men detected by fluorescence in situ hybridization.通过荧光原位杂交检测的生育能力正常和不育男性精子中的染色体数目异常
Hum Genet. 1994 May;93(5):502-6. doi: 10.1007/BF00202812.
10
Analysis of the primary sex ratio, sex chromosome aneuploidy and diploidy in human sperm using dual-colour fluorescence in situ hybridisation.利用双色荧光原位杂交技术分析人类精子中的初级性别比例、性染色体非整倍体和二倍体。
Eur J Hum Genet. 1993;1(4):325-34. doi: 10.1159/000472431.

通过荧光原位杂交检测正常精液捐献者人类精子中的非整倍体。

Detection of aneuploidy in human spermatozoa of normal semen donors by fluorescence in situ hybridization.

作者信息

Lähdetie J, Ajosenpää-Saari M, Mykkänen J

机构信息

Department of Medical Genetics, University of Turku, Finland.

出版信息

Environ Health Perspect. 1996 May;104 Suppl 3(Suppl 3):629-32. doi: 10.1289/ehp.104-1469614.

DOI:10.1289/ehp.104-1469614
PMID:8781395
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1469614/
Abstract

We have studied human spermatozoa from 24 normal, healthy unexposed men, 18 of whom were semen donors at the Sperm Bank in Turku, using multicolor fluorescence in situ hybridization with two chromosome-specific probes. The possible age-related increase in aneuploidy frequencies was assessed. Ten thousand spermatozoa were scored per individual for the presence of hyperploid, i.e., disomic and diploid, cells. The overall hybridization efficiency was 98.8%. The frequency of spermatozoa with two chromosome 1 signals was 11.5 +/- 5.2/10,000. The frequency of spermatozoa with two chromosome 7 signals was 6.4 +/- 3.9/10,000. Diploidy was present in 15.0 +/- 8.9/10,000 spermatozoa. Interindividual variation was quite large. No statistically significant correlation between age of the donors (range = 20-46 years) and the frequency of hyperploid spermatozoa was observed. The results give background information on the incidence of hyperploid spermatozoa in unexposed men and encourage the use of this novel technique of future studies on genetic effects in men exposed to potentially aneuploidogenic agents.

摘要

我们研究了24名正常、健康且未接触过有害物质的男性的精子,其中18人是图尔库精子库的精液捐赠者,采用了两种染色体特异性探针的多色荧光原位杂交技术。评估了非整倍体频率可能与年龄相关的增加情况。对每个个体的一万个精子进行评分,以确定超倍体细胞(即二体和二倍体细胞)的存在情况。总体杂交效率为98.8%。含有两个1号染色体信号的精子频率为11.5±5.2/10,000。含有两个7号染色体信号的精子频率为6.4±3.9/10,000。二倍体在15.0±8.9/10,000个精子中出现。个体间差异相当大。未观察到捐赠者年龄(范围为20 - 46岁)与超倍体精子频率之间存在统计学上的显著相关性。这些结果为未接触过有害物质的男性中超倍体精子的发生率提供了背景信息,并鼓励在未来对接触潜在非整倍体诱导剂的男性进行遗传效应研究时使用这种新技术。