Non-disjunction in human sperm: evidence for an effect of increasing paternal age

Griffin, Darren K.; Abruzzo, Michael A.; Millie, Elise; Sheean, Leon A.; Feingold, Eleanor; Sherman, Stephanie L.; Hassold, Terry

doi:10.1093/hmg/4.12.2227

Cited by 184 publications

(161 citation statements)

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“…We did not observe tetraploid sperm nuclei. Our results show rather large interindividual differences in diploidy frequencies, but the mean frequency (0.15%) is close to that reported by other groups (3,7,14,(21)(22)(23). Nine fertile men studied using probes for chromosomes 17 and 18 showed a frequency of 0.18% diploid spermatozoa (14), while another study among 10 normal donors showed higher frequencies of diploidy: 0.34% by using autosomal probes and 0.45% by using sex chromosome probes (7).…”

Section: Discussionsupporting

confidence: 86%

Detection of aneuploidy in human spermatozoa of normal semen donors by fluorescence In situ hybridization

Lähdetie¹,

Ajosenpää-Saari²,

Mykkänen³

1996

Environ Health Perspect

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We have studied human spermatozoa from 24 normal, healthy unexposed men, 18 of whom were semen donors at the Sperm Bank in Turku, using multicolor fluorescence in situ hybridization with two chromosome-specific probes. The possible age-related increase in aneuploidy frequencies was assessed. Ten thousand spermatozoa were scored per individual for the presence of hyperploid, i.e., disomic and diploid, cells. The overall hybridization efficiency was 98.8%. The frequency of spermatozoa with two chromosome 1 signals was 11.5±5.2/10,000. The frequency of spermatozoa with two chromosome 7 signals was 6.4 ± 3.9/10,000. Diploidy was present in 15.0 ± 8.9/1 0,000 spermatozoa. Interindividual variation was quite large. No statistically significant correlation between age of the donors (range= 20-46 years) and the frequency of hyperploid spermatozoa was observed. The results give background information on the incidence of hyperploid spermatozoa in unexposed men and encourage the use of this novel technique for future studies on genetic effects in men exposed to potentially aneuploidogenic agents. EnvironHealth Perspect 104(Suppl 3):629-632 (1996)

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Section: Discussionsupporting

confidence: 86%

Detection of aneuploidy in human spermatozoa of normal semen donors by fluorescence In situ hybridization

Lähdetie¹,

Ajosenpää-Saari²,

Mykkänen³

1996

Environ Health Perspect

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“…Using a triple color FISH X-Y-8, we did not find a paternal age effect on sex chromosomes disomy (XX, YY, XY) in infertile patients and in donors. Our results are in accordance with the data of Bosch et al [39,40] and Luetjens et al [16], but in discordance with others studies which found an effect of age on the production of disomic sex chromosomes with varying results for XX, YY, XY [41][42][43][44][45][46][47].…”

Section: Discussionsupporting

confidence: 84%

The effects of male aging on semen quality, sperm DNA fragmentation and chromosomal abnormalities in an infertile population

Brahem

Mehdi

Elghezal

et al. 2011

J Assist Reprod Genet

110

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Purpose To investigate the effects of male aging on semen quality, DNA fragmentation and chromosomal abnormalities in the spermatozoa of infertile patients and fertile men. Methods Semen samples of 140 infertile patients (24-76 years) and 50 men with proven fertility (25-65 years) were analyzed according to WHO guidelines. DNA fragmentation was detected by TUNEL assay, while aneuploidy was assessed by FISH. Results In the patient group, semen volume and vitality of spermatozoa decreased significantly with age, while sperm concentration showed a statistically significant increase with age. DNA fragmentation as well as disomy of sex chromosomes and disomy 8 did not show a statistically significant change with age. However, the diploidy rate was significantly increased with patient's age. In the control group, conventional semen parameters as well as DNA fragmentation and chromosomal abnormalities did not show a statistically significant with age. Conclusion Increased age in infertile men is associated with an increase in sperm concentration and diploidy, as well as a decline in semen volume and sperm vitality. However motility, morphology and DNA fragmentation are not affected by male age.

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“…The rates of XX-and YY-sperm in this study reflect a combination of disomy resulting from meiosis II error and diploidy. Thus, the XX-and YY-sperm frequencies (0.28% and 0.27%) estimated in this study are higher than those reported previously (Wyrobek et al, 1990;Robbins et al, 1993;Griffin et aL, 1995) (Table 5). The rates of XX-and YY-diploid sperm are needed to calculate the true rates of disomy for sex chromosomes.…”

Section: Discussioncontrasting

confidence: 63%

“…The disomy rate (0.39%) for chromosome 17 in this study is comparable to those (0.33% and 0.31%) by Han et al (1992) and by Guttenbach et aL (1994a), while higher than that (0.13%) in the report of Bischoff et al (1994) (Table 5). The disomy rate (0.33%) obtained for chromosome 18 is comparable to those (0.36% and 0.25%) by Guttenbach et al (1994b) and by Bischoff et aL (1994), while higher than that Williams et al (1993) and by Griffin et al (1995) (Table 5). On the contrary, the diploidy rate in this study is comparable to those of other investigators (Han et al, 1992;Williams et aL, 1993;Miharu et aL, i994) (Table 5).…”

Section: Discussionmentioning

confidence: 48%

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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Non-disjunction in human sperm: evidence for an effect of increasing paternal age

Cited by 184 publications

References 0 publications

Detection of aneuploidy in human spermatozoa of normal semen donors by fluorescence In situ hybridization

Detection of aneuploidy in human spermatozoa of normal semen donors by fluorescence In situ hybridization

The effects of male aging on semen quality, sperm DNA fragmentation and chromosomal abnormalities in an infertile population

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

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