Estimates of aneuploidy using multicolor fluorescence in situ hybridization on human sperm

Bischoff, Farideh Z.; Nguyen, Dianne; Burt, K.J.; Shaffer, Lisa G.

doi:10.1159/000133702

Cited by 102 publications

(78 citation statements)

References 8 publications

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“…Several single-probe approaches have yielded variable results of disomy 1 in spermatozoa [for review, see (8)], possibly due to variable diploidy frequencies interfering with the interpretation of results. The frequency of disomy for chromosome 7 in our study (0.06%) is in the range of another study that showed 0.00 to 0.09% disomy 7 in two men (9).…”

Section: Discussionsupporting

confidence: 65%

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: 65%

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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“…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: Discussionsupporting

confidence: 85%

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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“…In addition, the effects of age [8,[17][18][19][20] and tobacco consumption [21,22] on these can be studied. The incidence of aneuploidy for almost all chromosomes has been established in different fertile male groups [23][24][25][26][27]. However, the frequency of these aneuploidies has been found to vary considerably (reviewed by Spriggs and coworkers [26,27].…”

Section: Discussionmentioning

confidence: 99%

Incidence of Chromosome 8, 10, X and Y Aneuploidies in Sperm Nucleus of Infertile Men Detected by FISH

Acar

Kılınç²,

Cora

et al. 2000

Urol Int

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We studied the frequency of aneuploidy in sperm nuclei of six infertile men with abnormal semen profile and normal karyotype, using fluorescence in situ hybridization (FISH) with DNA probes for chromosomes 8, 10, X and Y. The control group consisted of four healthy fertile men with normal karyotype and semen profiles. The purpose of this study was to determine whether there are differences between infertile male donors and control donors for: (1) the incidence of sex chromosome aneuploidy, and (2) the number of disomies for chromosomes 8, and 10 cosegregating with chromosomes X and Y. FISH analysis showed no significant differences of sex ratios of the sperm nuclei in and between infertile and control groups. The most significant abnormalities in the infertile group were clusters of sperm nuclei bearing XY and XYY. In addition, the incidence of disomic sperm nuclei for chromosomes 8 and 10 consegregating with sex chromosomes was not significantly different beween the patient and control groups, nor within them. However, the total frequency of aneuploid sperm nuclei was significantly different beween the infertile group and the control group. We observed a significant excess of sperm nuclei bearing chromosome 10 along with disomy for chromosome Y (10YY). In conclusion, our results from FISH analysis demonstrate a significantly increased frequency of aneuploidy for the sex chromosomes in sperm nuclei from infertile men. Therefore it may be concluded that infertility is a risk factor for sex chromosome aneuploidy in sperm nuclei.

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Estimates of aneuploidy using multicolor fluorescence in situ hybridization on human sperm

Cited by 102 publications

References 8 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

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

Incidence of Chromosome 8, 10, X and Y Aneuploidies in Sperm Nucleus of Infertile Men Detected by FISH

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