人类精子的遗传学
Genetics of human sperm.
作者信息
Martin R H
机构信息
Department of Medical Genetics, University of Calgary, Canada.
出版信息
J Assist Reprod Genet. 1998 May;15(5):240-5. doi: 10.1023/a:1022528007564.
PURPOSE
Chromosome abnormalities in sperm were studied by fluorescence in situ hybridization to determine the frequency and distribution of abnormalities in normal men and the effect of donor age on the frequency of abnormalities. Studies of chemotherapy and infertility patients assessed any increased risk in these populations.
METHODS
Multicolor fluorescence in situ hybridization was performed on the sperm samples to assess aneuploidy frequencies for chromosomes 1, 2, 4, 9, 12, 13, 15, 16, 18, 20, 21, X, and Y as well as "sex ratios" and frequencies of diploid sperm.
RESULTS
Most chromosomes yielded disomy estimates of approximately 0.1%, whereas the frequencies for chromosome 21 and the sex chromosomes were significantly elevated. The only chromosome to show a significant paternal age effect was YY disomy. Chemotherapy patients did not have an increased risk of aneuploid sperm 2-13 years after treatment. Infertility patients had an increased risk of disomy for chromosome 1, 13, 21, and XY.
CONCLUSIONS
Multicolor fluorescence in situ hybridization analysis allows comparison of sperm from various populations of men and has demonstrated that infertile patients have a significant increase in the frequency of aneuploid sperm.
目的
通过荧光原位杂交技术研究精子中的染色体异常情况，以确定正常男性染色体异常的频率和分布，以及供体年龄对异常频率的影响。对化疗患者和不育患者的研究评估了这些人群中是否存在任何增加的风险。
方法
对精子样本进行多色荧光原位杂交，以评估1、2、4、9、12、13、15、16、18、20、21、X和Y染色体的非整倍体频率，以及“性别比”和二倍体精子的频率。
结果
大多数染色体的二体估计频率约为0.1%，而21号染色体和性染色体的频率显著升高。唯一显示出显著父本年龄效应的染色体是YY二体。化疗患者在治疗后2至13年非整倍体精子的风险没有增加。不育患者中1、13、21号染色体和XY的二体风险增加。
结论
多色荧光原位杂交分析能够比较不同男性群体的精子情况，并已证明不育患者的非整倍体精子频率显著增加。
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