Multicolor FISH Analysis of Chromosomal Breaks, Duplications, Deletions, and Numerical Abnormalities in the Sperm of Healthy Men

Sloter, Eddie D.; Lowe, Xiu; Moore, Dan H.; Nath, J.; Wyrobek, Andrew J.

doi:10.1086/303088

Cited by 55 publications

(38 citation statements)

References 75 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…A significant excess of sperm bearing partial duplications of the 9q region compared with those bearing partial duplications of 9cen (P ¼ 0.017) was detected. In a similar study in control donors, 23 it was also observed that sperm carrying partial duplications and deletions of 1p were five times more frequent than those carrying 1cen structural abnormalities. Partial duplications and deletions may originate by: (1) structural rearrangements, (2) unequal crossover in meiosis I producing partial duplications and, (3) breakage events during meiosis.…”

Section: Discussionmentioning

confidence: 68%

Linear increase of structural and numerical chromosome 9 abnormalities in human sperm regarding age

et al. 2003

View full text Add to dashboard Cite

A simultaneous four-colour fluorescence in situ hybridisation (FISH) assay was used in human sperm in order to search for a paternal age effect on: (1) the incidence of structural aberrations and aneuploidy of chromosome 9, and (2) the sex ratio in both normal spermatozoa and spermatozoa with a numerical or structural abnormality of chromosome 9. The sperm samples were collected from 18 healthy donors, aged 24 -74 years (mean 48.8 years old). Specific probes for the subtelomeric 9q region (9qter), centromeric regions of chromosomes 6 and 9, and the satellite III region of the Y chromosome were used for FISH analysis. A total of 190 117 sperms were evaluated with a minimum of 10 000 sperm scored from each donor. A significant linear increase in the overall level of duplications and deletions for the centromeric and subtelomeric regions of chromosome 9 (Pr0.002), chromosome 9 disomy (Po0.0001) as well as diploidy (Po0.0001) was detected in relation to age. The percentage of increase for each 10-year period was 29% for chromosome 9 disomy, 18.8% for diploidy, and ranged from 14.6 to 28% for structural aberrations. Our results indicate a linear increase in structural aberrations and disomy for chromosome 9 in sperm with respect to age.

show abstract

Section: Discussionmentioning

confidence: 68%

Linear increase of structural and numerical chromosome 9 abnormalities in human sperm regarding age

et al. 2003

View full text Add to dashboard Cite

show abstract

“…Sloter et al 23 observed a slight trend toward higher frequencies of sperm with segmental duplications vs deletions in each man, regardless of age. Likewise, several authors [28][29][30] Age and sperm chromosome structural abnormalities C Templado et al showed that duplications of 1p were more frequent than deletions in human spermatozoa. The excess of duplications observed in sperm nuclei could be a reflection of the excess in acentric fragments described in sperm karyotypes.…”

Section: Discussionmentioning

confidence: 97%

Advanced age increases chromosome structural abnormalities in human spermatozoa

et al. 2010

View full text Add to dashboard Cite

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.

show abstract

“…Besides the laborious sperm karyotyping technique, the development of fluorescence in situ hybridization allows direct analysis of spermatozoa for numerical (and structural) aberrations in large numbers of sperm (Sloter et al, 2000).…”

Section: Paternal Age and Geneticsmentioning

confidence: 99%

Paternal age and reproduction

Sartorius

Nieschlag

2009

Human Reproduction Update

291

212

View full text Add to dashboard Cite

background: Due to various sociological factors, couples in developed countries are increasingly delaying childbearing. Besides ethical, economical and sociological issues, this trend presents us with several complex problems in reproduction. Although it is well-known that maternal age has a negative effect on fertility and increases the risk of adverse outcome during pregnancy and in offspring, the paternal influence on these outcomes is less well researched and not well-known.methods: We performed a systematic search of PubMed, and retrieved original articles and review articles to update our previous survey in this journal.results: This review highlights the link between male age and genetic abnormalities in the germ line and summarizes the knowledge about the effects of paternal age on reproductive function and outcome. Increasing paternal age can be associated with decreasing androgen levels, decreased sexual activity, alterations of testicular morphology and a deterioration of semen quality (volume, motility, morphology). Increased paternal age has an influence on DNA integrity of sperm, increases telomere length in spermatozoa and is suggested to have epigenetic effects. These changes may, at least in part, be responsible for the association of paternal age over 40 years with reduced fertility, an increase in pregnancy-associated complications and adverse outcome in the offspring. conclusion: Although higher maternal age can be an indication for intensive prenatal diagnosis, including invasive diagnostics, consideration of the available evidence suggests that paternal age itself, however, provides no rationale for invasive procedures.

show abstract

Multicolor FISH Analysis of Chromosomal Breaks, Duplications, Deletions, and Numerical Abnormalities in the Sperm of Healthy Men

Cited by 55 publications

References 75 publications

Linear increase of structural and numerical chromosome 9 abnormalities in human sperm regarding age

Linear increase of structural and numerical chromosome 9 abnormalities in human sperm regarding age

Advanced age increases chromosome structural abnormalities in human spermatozoa

Paternal age and reproduction

Contact Info

Product

Resources

About