An analysis of structural aberrations in human sperm chromosomes

Brandriff, Brigitte; Gordon, Laurie; Moore, Deanna; Carrano, A.V.

doi:10.1159/000132500

Cited by 50 publications

(46 citation statements)

References 12 publications

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“…In both younger and older patients, chromosomes 19 and 20 had an excess of abnormalities, whereas chromosomes 3 and 6 had less than expected. Non-random distribution of breaks on chromosome 9 has been reported in sperm karyotypes 14 and in FISH studies an age dependent linear trend on chromosome 9 breaks was reported. 22.…”

Section: Discussionmentioning

confidence: 84%

“…In sperm karyotypes, obtained after in vitro penetration of hamster oocytes, structural chromosome abnormalities have been observed far more frequently than numerical aberrations. [13][14][15] In a review, Templado et al 16 reported a median percentage of 6.6% of structural aberrations and 1.8% of numerical abnormalities. Several authors have explored the relationship between age of the donor and sperm structural aberrations (reviewed by Buwe et al 17 ).…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 84%

Section: Introductionmentioning

confidence: 99%

Advanced age increases chromosome structural abnormalities in human spermatozoa

et al. 2010

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“…abnormality Less Upper P-value Age and chromosome abnormalities in human sperm M Bosch et al distribution of breaks in this chromosome was previously reported in sperm karyotypes of normal men. 4,20 These studies are coincident in that chromosome 9 has a higher number of breakpoints than expected by chance and also in that 50% of the breakpoints are located between the centromere and the 9qh þ segment. In somatic cells, Starke et al 22 proposed that the homology between 9p12 and 9q13 -q21.1 with the short arms of the acrocentric human chromosomes, made these chromosomes more prone to chromosome rearrangements and increased the risk of an interchromosomal effect among them.…”

Section: Discussionmentioning

confidence: 86%

“…Chromosome 9 was chosen because of its high incidence of breaks shown in somatic cells and spermatozoa. 20,21 We also investigated whether chromosome 9 structural or numerical abnormalities influenced by donor age were more likely to occur in X-or Y-bearing sperm. We found increased frequencies of all types of structural chromosome 9 aberrations analysed (deletions and duplications of the 9cen and 9q regions) with regard to age.…”

Section: Discussionmentioning

confidence: 99%

“…19 Furthermore, this chromosome is more represented in unrejoined breakage events than expected by chance in human sperm complements. 20,21 To our knowledge, no FISH studies regarding the effect of age on structural aberrations of chromosome 9 in sperm have been performed, and only one recent sperm study 13 has been carried out to determine the incidence of numerical aberrations for chromosome 9 in relation to age using this technique.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2003

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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.

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Incidence of aneuploid spermatozoa among infertile men studied by multicolor fluorescence in situ hybridization

et al. 1997

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We studied by fluorescence in situ hybridization the frequency of aneuploidy in spermatozoa of 12 infertile men: 8 with normal or nearly normal semen analysis values and 4 with oligo-astheno-teratozoospermia. The control group consisted of 18 normal healthy fertile men. Probes for chromosome 1 and 7 were used and 10,000 spermatozoa per individual were scored. The hybridization efficiency was good (higher than 98%). In the group with nearly normal semen analysis values the frequencies of spermatozoa disomic for chromosome 1 or chromosome 7 were 0.08% and 0.07%, respectively, and not elevated compared to controls (0.10% and 0.06%, respectively). The frequency of diploid spermatozoa was 0.17%, not significantly different from the control group (0.15%) either. In the group of oligoastheno-teratozoospermic men both the frequencies of disomic cells for chromosome 1 (0.22%) and for chromosome 7 (0.13%) and of diploid spermatozoa (0.56%) were significantly higher compared to controls, although this was mainly due to one patient with high frequencies of hyperploid sperm. The results indicate that infertility may be a risk factor for chromosomal aneuploidy in spermatozoa.

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An analysis of structural aberrations in human sperm chromosomes

Cited by 50 publications

References 12 publications

Advanced age increases chromosome structural abnormalities in human spermatozoa

Advanced age increases chromosome structural abnormalities in human spermatozoa

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

Incidence of aneuploid spermatozoa among infertile men studied by multicolor fluorescence in situ hybridization

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