Chromosomes of human sperm: Variability among normal individuals

Brandriff, Brigitte; Gordon, Laurie; Ashworth, Linda K.; Watchmaker, G.; Moore, Dan H.; Wyrobek, Andrew J.; Carrano, A.V.

doi:10.1007/bf00389451

Cited by 122 publications

(70 citation statements)

References 21 publications

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“…Using this datum, mean frequencies of XX-and YY-sperm in this study are calculated to be 0.18% and 0.15%, respectively. The disomy rates for autosomes in this study are generally higher than those estimated from conventional cytogenetic studies on hamster eggs (Martin, 1985;Brandriff et al, 1985). The discrepancies of the disomy rates between FISH and karyotype studies may be due to the limited number of total sperm in the karyotype studies.…”

Section: Discussioncontrasting

confidence: 68%

Detection of aneuploidy in human spermatozoa using fluorescencein situ hybridization (FISH)

Miharu

Mizunoe

et al. 1996

Jap J Human Genet

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SummaryFluorescence in situ hybridization (FISH) with chromosome specific alpha-satellite DNA probes was used to estimate the rates of aneuploidy of chromosomes 1, 17, 18, X and Y in human ejaculated sperm. Sperm samples were collected from six donors, and biotinylated DNA probes, D1Z5, D17Z1, D18Z1, DXZ1 and DYZ3 were hybridized to interphase sperm which had been pretreated with dithiothreitol to expand their nuclei. A minimum of 3,000 sperm per donor were analyzed. The hybridization efficiency was 99.68% for all the five probes. The frequencies of aneuploidy for chromosomes 1, 17 and 18 were 0.65%, 0.66%, and 0.61%, respectively. For XX-and YY-sperm the frequencies were 0.28% and 0.27%, respectively. To estimate the diploidy and disomy rates, a mixture of D17ZI and D18Z1 were used as probes, and the frequency of diploid sperm was calculated to be 0.27%. After subtraction of the diploidy rate, the disomy rates for chromosomes 1, 17, and 18 were estimated to be 0.38%, 0.39% and 0.33%, respectively. The proportion of X-and Y-bearing sperm were 49.90% and 49.66%, consistent with an expected 1 : 1 ratio.

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Section: Discussioncontrasting

confidence: 68%

Detection of aneuploidy in human spermatozoa using fluorescencein situ hybridization (FISH)

Miharu

Mizunoe

et al. 1996

Jap J Human Genet

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“…In addition, it is known that injury to sperm DNA after second meiosis is not repaired, and that DNA-fragmented sperm are found in human ejaculate. Although the ratios of abnormal sperm in humans and in experimental animals were reported to be 9.3-15.5% [3,20] and 0.9-1.4% [9], respectively, and that of DNA-fragmented sperm in human ejaculate was reported to be 20-70% [13], the ratios of DNA-fragmented sperm in wild animals or in endangered animals may be higher than in humans or experimental animals. As the number of DNA-fragmented sperm increases, the fertilization rate of the sperm is thought to rise, so DNA fragmentation of sperm might affect embryo development.…”

Section: Discussionmentioning

confidence: 99%

Effects of Exposure to Clothianidin on the Reproductive System of Male Quails

et al. 2013

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ABSTRACT. Clothianidin (CTD) is a neonicotinoid developed in the 1990s as an insecticide having selective toxicity, but it was later found to cause reproductive abnormalities in rats through oxidative stress. There is an attempt to preserve endangered animals, including the Japanese crested ibis, in Japan. However, there is a concern that neonicotinoid affects the reproduction of this bird, since it is used in its habitat. CTD toxicity in the birds is poorly understood, so we investigated whether or not the daily oral administration of CTD has any deleterious effects on the reproductive functions of mature male quails as experimental animals. The animals were randomly divided into four groups of 6 or 7 quails each, treated orally with 0, 0.02, 1 or 50 mg CTD/kg body weight (Control, CTD0.02, CTD1 and CTD50). After that the males bred with untreated females to estimate the egg weights, and rates of fertilization and normal development, the testes, liver and spleen were examined histologically. Vacuolization and the number of germ cells having fragmented DNA in seminiferous tubules, and the number and size of vacuoles in hepatocytes increased dose-dependently. There were no significant differences in egg weights and fertilization rates between the groups, but some eggs of the CTD1 and CTD50 groups failed to develop, and embryonic length decreased dose-dependently. Thus, it was found that CTD affected the reproduction of the male quail through the fragmentation of germ cells and the inhibition or delay of embryonic development.

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“…The excess of duplications observed in sperm nuclei could be a reflection of the excess in acentric fragments described in sperm karyotypes. 15,[18][19][20][21] and metaphase I spermatocytes. 31 Acentric fragments can either acquire a neocentromere and be rescued, or be lost.…”

Section: Discussionmentioning

confidence: 99%

“…Other authors noticed a trend toward elevated frequencies of breaks and/or acentric fragments with age but without reaching statistical significance. 15,20,21 There have been further reports using multicolor FISH in decondensed human sperm heads but each study has been limited to a particular chromosome. Using this approach, a positive age effect on the frequencies of duplications and deletions for the centromeric and subtelomeric regions of chromosome 9 was reported by Bosch et al 22 and, similarly, Sloter et al 23 found that sperm of older men carried more breaks and segmental duplications and deletions of chromosome 1.…”

Section: Introductionmentioning

confidence: 99%

Advanced age increases chromosome structural abnormalities in human spermatozoa

et al. 2010

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This study explores the relationship between sperm structural aberrations and age by using a multicolor multichromosome FISH strategy that provides information on the incidence of duplications and deletions on all the autosomes. ToTelvysion kit (Abbott Molecular, Abbott Park, IL, USA) with telomere-specific probes was used. We investigated the sperm of 10 male donors aged from 23 to 74 years old. The donors were divided into two groups according to age, a cohort of five individuals younger than 40 and a cohort of five individuals older than 60 years. The goal of this study was to determine (1) the relationship between donor age and frequency and type of chromosome structural abnormalities and (2) chromosomes more frequently involved in sperm structural aberrations. We found that the older patients had a higher rate of structural abnormalities (6.6%) compared with the younger cohort (4.9%). Although both duplications and deletions were seen more frequently in older men, our findings demonstrate the presence of an excess of duplications versus deletions in both groups at a ratio of 2 to 1. We demonstrate that the distribution of duplications and deletions was not linear along the chromosomes, although a trend toward a higher rate of abnormalities in larger chromosomes was observed. This work is the first study addressing the frequencies of sperm chromosome structural aberrations of all autosomes in a single assay thus making a contribution to the clarification of the amount and origin of damage present in human spermatozoa and in relation to age.

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Chromosomes of human sperm: Variability among normal individuals

Cited by 122 publications

References 21 publications

Detection of aneuploidy in human spermatozoa using fluorescencein situ hybridization (FISH)

Detection of aneuploidy in human spermatozoa using fluorescencein situ hybridization (FISH)

Effects of Exposure to Clothianidin on the Reproductive System of Male Quails

Advanced age increases chromosome structural abnormalities in human spermatozoa

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