Genetics of Human Sperm

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Abstract
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.

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