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PubMed2004

Comparison of M-FISH and conventional cytogenetic analysis in accelerated and acute phases of CML.

FISH and multicolor FISH (M-FISH) techniques have greatly enhanced the resolution of conventional cytogenetic analysis, thus enabling the identification of novel regions of rearrangement in hematological malignancies. We report on the analysis of cells from 24 chronic myelogenous leukemia (CML) patients, in either accelerated phase (14 cases) or blast crisis (10 cases) aimed at searching for previously unidentified additional abnormalities related to disease evolution. Indeed, in 6 of 24 cases (25%) M-FISH allowed a more precise description of chromosomal aberrations, the finding of cryptic rearrangements, characterization of markers, identification of additional material and a better interpretation of complex aberrations. However, new recurrent aberration did not emerge from M-FISH analysis.

Adult↗
PubMed2006

Genomic imbalances and patterns of karyotypic variability in mantle-cell lymphoma cell lines.

Mantle-cell lymphoma (MCL) is genetically characterized by 11q13 chromosomal translocations involving the CCND1 gene. We have characterized five MCL cell lines, JVM-2, GRANTA-519, REC-1, JEKO-1, and NCEB-1, combining metaphase and array comparative genomic hybridization, multicolor-FISH, and molecular analysis. Our results revealed common gained regions at 2p14, 9q31.2-qter, 11q13.1-q21, 13q14-q21.2, 13q34-qter and 18q21.1-q22.1, and losses at 1p21.2-p31.1, 2p11.2, 8p21.2-pter, 9p21.3-pter, 11q23.3-qter, 17p11.2-pter, and 17q21.2-q22.2. All cell lines except JVM-2, displayed moderate or high numerical chromosome instability. In addition, an ongoing level of chromosome rearrangements was observed in REC-1. Surprisingly, NCEB-1 carried several stable mouse chromosomes and showed expression of both human and murine bcl-2 protein. Our findings indicate that these cell lines represent three patterns of chromosome evolution in MCL and may be useful to understand the pathogenesis of this neoplasm.

Animals↗
PubMed2005

Characterization of novel non-clonal intrachromosomal rearrangements between the H4 and PTEN genes (H4/PTEN) in human thyroid cell lines and papillary thyroid cancer specimens.

The two main forms of RET rearrangement in papillary thyroid carcinomas (PTC) arise from intrachromosomal inversions fusing the tyrosine kinase domain of RET with either the H4 (RET/PTC1) or the ELE1/RFG genes (RET/PTC3). PTEN codes for a dual-specificity phosphatase and maps to chromosome 10q22-23. Germline mutations confer susceptibility to Cowden syndrome whereas somatic mutations or deletions are common in several sporadic human tumors. Decreased PTEN expression has been implicated in thyroid cancer development. We report the characterization of a new chromosome 10 rearrangement involving H4 and PTEN. The initial H4/PTEN rearrangement was discovered as a non-specific product of RT-PCR for RET/PTC1 in irradiated thyroid cell lines. Sequencing revealed a transcript consisting of exon 1 and 2 of H4 fused with exons 3-6 of PTEN. Nested RT-PCR with specific primers bracketing the breakpoints confirmed the H4/PTEN rearrangements in irradiated KAT-1 and KAT-50 cells. Additional H4/PTEN variants, generated by recombination of either exon 1 or exon 2 of H4 with exon 6 of PTEN, were found in non-irradiated KAK-1, KAT-50, ARO and NPA cells. Their origin through chromosomal recombination was confirmed by detection of the reciprocal PTEN/H4 product. H4/PTEN recombination was not a clonal event in any of the cell lines, as Southern blots with appropriate probes failed to demonstrate aberrant bands, and multicolor FISH of KAK1 cells with BAC probes for H4 and PTEN did not show a signal overlap in all cells. Based on PCR of serially diluted samples, the minimal frequency of spontaneous recombination between these loci was estimated to be approximately 1/10(6) cells. H4/PTEN products were found by nested RT-PCR in 4/14 normal thyroid tissues (28%) and 14/18 PTC (78%) (P<0.01). H4/PTEN is another example of recombination involving the H4 locus, and points to the high susceptibility of thyroid cells to intrachromosomal gene rearrangements. As this also represents a plausible mechanism for loss-of-function of PTEN, other thyroid neoplastic phenotypes and eventually other cancer types need to be screened for clonal H4/PTEN rearrangements.

Chromosome Mapping↗
PubMed2006

Gamma-delta T-cells in patients with squamous cell carcinoma of the head and neck.

In our attempt to characterize a general immune-suppression found in patients with squamous cell carcinoma of the head and neck (SCCHN) we now focused on a subset of CD3 lymphocytes described as gamma/delta-T-cells, a cell type with potential relevance in non-MHC restricted anti-tumor immune responses. Peripheral blood of 33 SCCHN patients and 33 age-matched controls (CON) was evaluated for the frequency of gamma/delta-T-cells among CD3+ T-cells and their onset of apoptosis (Annexin V binding) by multicolor flow cytometry. Results were correlated with clinical parameters. Patients with SCCHN had a significantly higher proportion of gamma/delta-T-cells compared to healthy controls (4.4+/-0.4% for SCCHN vs. 3.0+/-0.3% for CON, p=0.01). However, this increase was not paralleled with a difference in the onset of apoptosis if compared to CON. There was also no correlation between the proportion of gamma/delta-T-cells and tumor stage. However, a significantly higher proportion of gamma/delta-T-cells was found in patients with recurrent or metachronous second primary SCCHN (6.0+/-1.0%) if compared to the other SCCHN (3.8+/-0.4%, p=0.02). In a follow up 3-6 months post-treatment patients showed a decrease of gamma/delta-T-cells among CD3+cells (2.7+/-0.4%, n=4) if they were operated only and an increase if primary radio-chemotherapy (6.7+/-1.7%, n=8) or a combination of operation plus radio-chemotherapy (6.8+/-2.3%, n=3) was applied. Furthermore, patients receiving palliative treatment including radio-chemotherapy had highest values of gamma/delta-T-cells (9.1+/-2.7%, n=4) overall implicating that the treatment modality significantly influences the proportion of gamma/delta-T-cells. Since patients with SCCHN, particularly those with recurrent or second primary disease after treatment, had a higher proportion of gamma/delta-T-cells without signs of a reduced onset of apoptosis this could be due to an increased de novo generation. The current study implies that increased frequencies of gamma/delta-T-cells in patients with SCCHN may not only be the result of tumor-host interactions but the consequence of applied treatment modalities.

Aged↗
PubMed2005

Advances in plant chromosome identification and cytogenetic techniques.

Recent developments that improve our ability to distinguish slightly diverged genomes from each other, as well as to distinguish each of the nonhomologous chromosomes within a genome, add a new dimension to the study of plant genomics. Differences in repetitive sequences among different species have been used to develop multicolor fluorescent in situ hybridization techniques that can define the components of allopolyploids in detail and reveal introgression between species. Bacterial artificial chromosome probes and repetitive sequence arrays have been used to distinguish each of the nonhomologous somatic chromosomes within a species. Such karyotype analysis opens new avenues for the study of chromosomal variation and behavior, as well as for the localization of individual genes and transgenes to genomic position.

Chromosomes, Plant↗
PubMed2004

Genotoxic effects on human spermatozoa among pesticide factory workers exposed to fenvalerate.

Fenvalerate, a synthetic pyrethroid insecticide, is widely produced and used worldwide. To explore fenvalerate-induced genotoxic effects, particularly numerical chromosome aberration (CA), we firstly examined conventional semen parameters, the progression and motion parameters of the spermatozoa among 12 fenvalerate-exposed workers and 30 donors of the internal and external control groups. Then numerical CA of chromosome X, Y and 18 were investigated by multicolor fluorescence in situ hybridization (FISH). The results showed the significant differences in the percentage of sperm abnormality between fenvalerate-exposed group and the external control group (P = 0.024). In aneuploid parameters, the frequency (mean +/- S.D.) of sex chromosome disomy was 0.742 +/- 0.131% in fenvalerate-exposed group, which was significantly higher than those in the internal (0.563 +/- 0.135%) and external control group (0.386 +/- 0.140%) (P < 0.01), and the frequency of chromosome 18 disomy in fenvalerate-exposed group (0.326 +/- 0.069%) was significantly higher than those in the internal and external control groups (0.195 +/- 0.094% and 0.124 +/- 0.068%), respectively (P < 0.01). We also found the nullisomies of sex chromosomes and chromosome 18 were significantly higher than those in the external control group and two control groups, respectively (P < 0.01). The frequencies of aneuploidy and numerical CA we detected also showed significant differences between exposed group and control groups (P < 0.05 and/or P < 0.01). Moreover, we found the positive correlation not only between nullisomic frequencies of these chromosomes and numerical CA rate (r > 0.70, P < 0.01) but also between disomic frequency of sex chromosomes, aneuploidy rate and sperm abnormality in all donors (r = 0.530 and r = 0.536, P < 0.01). Our findings suggest that fenvalerate or its metabolites induced morphologic abnormality and genotoxic defects of spermatozoa among fenvalerate-exposed workers by causing numerical CA in spermatogenesis as a special and potential genotoxic agent.

Adult↗
PubMed2005

Ehrlichial infection in Cameroonian canines by Ehrlichia canis and Ehrlichia ewingii.

Ehrlichia chaffeensis and Ehrlichia ewingii are agents of emerging human ehrlichioses in North America and are transmitted primarily by Amblyomma americanum ticks, while Ehrlichia canis is the globally distributed cause of canine monocytic ehrlichiosis (CME) and is transmitted by the brown dog tick, Rhipicephalus sanguineus. Although E. canis and Ehrlichia ruminantium are endemic in Africa, the presence of ehrlichial agents in dogs and ticks in Cameroon has not been investigated. The objective of this study was to determine the prevalence of ehrlichial infections in Cameronian dogs using a combination of serologic and molecular methods. Peripheral blood was collected, clinical signs and the presence or absence of ticks on dogs (n=104) presenting for various reasons at local veterinary clinics around the Mount Cameroon region were noted. IFA identified 33 dogs (32%) with antibodies reactive with E. canis, and reactivity of these sera with all major E. canis antigens (200, 140, 95, 75, 47, 36, 28, and 19-kDa) was confirmed by immunoblotting. Multicolor real-time PCR detected ehrlichial DNA (E. canis (15) and E. ewingii (2)) in 17 dogs (16.3%), all of which had attached ticks at time of presentation. The dsb amplicons (378 bp) from E. canis and E. ewingii were identical to gene sequences from North American isolates. This study identifies canine ehrlichiosis as a prevalent unrecognized cause of disease in Cameroonian canines.

Animals↗
PubMed1996

Color-coded measures of myocardial velocity throughout the cardiac cycle by tissue Doppler imaging to quantify regional left ventricular function.

TDI is a new echocardiographic technique that calculates and displays color-coded myocardial velocity on-line. To determine the feasibility of endocardial velocity throughout the cardiac cycle as a means to quantify regional function, 20 normal subjects aged 30 +/- 5 years and 12 patients with heart disease aged 62 +/- 17 years were studied with a prototype TDI system. TDI M-mode images were acquired by using a multicolored velocity map (display range, -30 to 30 mm/sec; temporal resolution, 90 Hz). Color-coded velocity data were then converted to numeric values off-line at 50 msec intervals. Posterior wall velocities throughout the cardiac cycle by TDI were closely correlated with velocity calculations from the first derivative of routine digitized M-mode tracings (group mean r = 0.88 +/- 0.03, SEE = 7.0 +/- 1.1 mm/sec). Anteroseptal TDI color-coded systolic velocity occurred 164 +/- 84 msec from the onset of the electrocardiographic QRS compared with 203 +/- 33 msec in the posterior wall (P < 0.05) in normal subjects, consistent with normal electrical activation. Significant differences in systolic and diastolic posterior wall TDI velocity data were observed in patients with hypokinetic or akinetic segments assessed by independent routine study when compared with normal controls. Calculated systolic and early diastolic posterior wall TDI indexes correlated significantly with percentage of wall thickening. Of abnormal anteroseptal segments, TDI systolic time velocity integrals were significantly different than normal and correlated with percentage of wall thickening. TDI has potential to quantitatively assess regional left ventricular function.

Adult↗
PubMed2005

Genomic amplification of the human telomerase gene (TERC) in pap smears predicts the development of cervical cancer.

Invasive cervical carcinomas almost invariably carry extra copies of chromosome arm 3q, resulting in a gain of the human telomerase gene (TERC). This provided the rationale for the development of a multicolor fluorescence in situ hybridization (FISH) probe set as a diagnostic tool for the direct detection of TERC gains in Pap smears. We previously used this probe set to show that cervical intraepithelial neoplasia (CIN) 2 and CIN3 lesions could be distinguished from normal samples, atypical squamous cell of undetermined significance (ASCUS) and CIN1, with a sensitivity and specificity exceeding 90%, independent of the cytomorphological assessment. In the current study, we explored whether gain of 3q and amplification of TERC could predict progression from CIN1/CIN2 to CIN3 and invasive carcinoma. We applied our probe set to a series of 59 previously stained Pap smears for which repeat Pap smears and clinical follow-up were available. The samples included CIN1/CIN2 lesions that progressed to CIN3 (progressors), CIN1/CIN2 lesions that regressed spontaneously (regressors), and normal Pap smears from women who subsequently developed CIN3 or cervical cancer. Here, we show that progressors displayed a gain of 3q whereas none of the regressors showed this genetic aberration. These data suggest that 3q gain is required for the transition from CIN1/CIN2 to CIN3 and that it predicts progression. Of note, 3q gain was found in 33% of cytologically normal Pap smears from women who were diagnosed with CIN3 or invasive cervical carcinoma after a short latency. The sensitivity of our test for predicting progression from CIN1/CIN2 to CIN3 was 100% and the specificity, ie, the prediction of regression, was 70%. We conclude that the detection of 3q gain and amplification of TERC in routinely collected Pap smears can assist in identifying low-grade lesions with a high progression risk and in decreasing false-negative cytological screenings.

Adult↗
PubMed2002

Two-photon fluorescence coincidence analysis: rapid measurements of enzyme kinetics.

Dual-color fluorescence cross-correlation analysis is a powerful tool for probing interactions of different fluorescently labeled molecules in aqueous solution. The concept is the selective observation of coordinated spontaneous fluctuations in two separate detection channels that unambiguously reflect the existence of physical or chemical linkages among the different fluorescent species. It has previously been shown that the evaluation of cross-correlation amplitudes, i.e., coincidence factors, is sufficient to extract essential information about the kinetics of formation or cleavage of chemical or physical bonds. Confocal fluorescence coincidence analysis (CFCA) (Winkler et al., Proc. Natl. Acad. Sci. U.S.A. 96:1375-1378, 1999) emphasizes short analysis times and simplified data evaluation and is thus particularly useful for screening applications or measurements on live cells where small illumination doses need to be applied. The recent use of two-photon fluorescence excitation has simplified dual- or multicolor measurements by enabling the simultaneous excitation of largely different dye molecules by a single infra-red laser line (Heinze et al., Proc. Natl. Acad. Sci. U.S.A. 97:10377-10382, 2000). It is demonstrated here that a combination of CFCA with two-photon excitation allows for minimization of analysis times for multicomponent systems down to some hundreds of milliseconds, while preserving all known advantages of two-photon excitation. By introducing crucial measurement parameters, experimental limits for the reduction of sampling times are discussed for the special case of distinguishing positive from negative samples in an endonucleolytic cleavage assay.

Algorithms↗
PubMed2000

The efficient enzymatic synthesis of N-acetyllactosamine in an organic co-solvent.

In the presence of beta-galactosidase from Bifidobacterium bifidum, N-acetyllactosamine was synthesized in significantly enhanced yield compared with earlier routes. Different proportions of the (1-->4)- and (1-->6)-linked forms were obtained depending on the choice of enzyme and reaction conditions, viz. the nature of added organic co-solvent (20-80% of 2-ethoxy ethyl ether, trimethyl phosphate, or acetone). The beta-(1-->4)-linked disaccharide was the major product and the beta-(1-->6)-linked disaccharide was the minor product. With beta-galactosidases from P. multicolor, A. oryzae, B. longum the beta-(1-->6) linkage was exclusively synthesized. Procedures for optimising the yield of N-acetyllactosamine are discussed. An immobilized enzyme on a nylon powder column was used for the efficient recycling of enzyme and synthesizing the disaccharide.

Amino Sugars↗
PubMed2003

Beta-glycosylamidine as a ligand for affinity chromatography tailored to the glycon substrate specificity of beta-glycosidases.

An affinity adsorbent for beta-glycosidases has been prepared by using beta-glycosylamidine as a ligand. beta-Glucosylamidine and beta-galactosylamidine, highly potent and selective inhibitors of beta-glucosidases and beta-galactosidases, respectively, were immobilized by a novel one-pot procedure involving the addition of a beta-glycosylamine and 2-iminothiolane.HCl simultaneously to a matrix modified with maleimido groups via an appropriate spacer to give an affinity adsorbent for beta-glucosidases and beta-galactosidases, respectively. This one-pot procedure enables various beta-glycosylamidine ligands to be formed and immobilized conveniently according to the glycon substrate specificities of the enzymes. A crude enzyme extract from tea leaves (Camellia sinensis) and a beta-galactosidase from Penicillium multicolor were chromatographed directly on each affinity adsorbent to give a beta-glucosidase and a beta-galactosidase to apparent homogeneity in one step by eluting the column with glucose or by a gradient NaCl elution, respectively. The beta-glucosidase and beta-galactosidase were inhibited competitively by a soluble form of the corresponding beta-glycosylamidine ligand with an inhibition constant (K(i)) of 2.1 and 0.80 microM, respectively. Neither enzyme was bound to the adsorbent with a mismatched ligand, indicating that the binding of the glycosidases was of specific nature that corresponds to the glycon substrate specificity of the enzymes. The ease of preparation and the selective nature of the affinity adsorbent should promise a large-scale preparation of the affinity adsorbent for the purification and removal of specific glycosidases according to their glycon substrate specificities.

Amidines↗
PubMed1996

The synthesis of galactopyranosyl derivatives with beta-galactosidases of different origins.

beta-Galactosidases from four different sources were used to catalyze the transfer of beta-D-galactopyranosyl from 4-nitrophenyl-beta-D-galactopyranoside to a hydroxyl group of 2-acetamido-2-deoxy-galactopyranose in the synthesis of Gal beta (1-3)GalNAc (1), Gal beta (1-4)GalNAc (2) and Gal beta (1-6)GalNAc (3), in triethyl phosphate buffered solutions (20-60%). When beta-galactosidases from Penicillium multicolor and Aspergillus oryzae were used as the catalysts, the beta (1-6)-linked disaccharide was produced as the major product. However, with beta-galactosidase from Bifidobacterium bifidum, the major products were the beta (1-4) and beta (1-6)-linked disaccharides. On the other hand, with beta-galactosidase from Streptococcus 6646K, beta (1-3)-linked disaccharide was predominant together with beta (1-4)-linked isomer. Gal beta (1-3)GlcNAc (4), Gal beta (1-4)GlcNAc (5) and Gal beta (1-6)GlcNAc (6) were also synthesized with beta-galactosidase from S. 6646K and B. bifidum with 2-acetamido-2-deoxy-glucopyranose as the acceptor and PNPGal as the donor. In both cases, the beta (1-4)-linked disaccharide was predominantly produced. In addition, a comparative study was carried out to determine the regioselectivity of the transglycosylation reaction as well as the hydrolytic specificity toward the same linked disaccharides.

Acetylgalactosamine↗
PubMed1997

Enzymatic synthesis, isolation, and analysis of novel alpha- and beta-galactosyl-cycloisomalto-octaoses.

Novel branched cycloisomalto-octaoses (CI8s) were enzymatically synthesized by transgalactosylation with alpha-galactosidase from coffee bean and beta-galactosidase preparations from Penicillium multicolor and Bacillus circulans, using melibiose and lactose as donor substrates, and CI8 which is a cyclic homogeneous oligosaccharide composed of eight glucose units bound by alpha-(1-->6)-linkages, as an acceptor. alpha-Galactosyl-CI8s and beta-galactosyl-CI8s obtained were isolated and purified by HPLC. Their structures were elucidated by matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDITOFMS) and NMR spectroscopy.

Bacillus↗
PubMed2000

Role of mitotic control in spermatogenesis.

OBJECTIVE: To study the correlation between the incidence of sex chromosome aneuploidies in the somatic cells and spermatozoa in karyotypically normal infertile men and fertile donors. DESIGN: A prospective, phase two, controlled study. SETTING: A teaching Hospital Reproductive Medicine and Medical Genetics Units. PATIENT(S): Ten patients with idiopathic oligozoospermia and 10 sperm donors with proven fertility, all with a normal karyotype 46, XY. INTERVENTION(S): Multicolor fluorescence in situ hybridization (FISH) of peripheral blood lymphocytes and spermatozoa using a probe cocktail containing the alpha satellite DXZ1 for the X centromere, DYZ1 for the heterochromatic region of the long arm of the Y, and cosmids D21S259, D21S341, and D21S342 for Down syndrome critical region of chromosome 21. MAIN OUTCOME MEASURE(S): The incidence of chromosome X, Y, and 21 aneuploidies in peripheral lymphocytes and spermatozoa in both groups. RESULT(S): The incidence of aneuploidies related to chromosomes X, Y, and 21 were significantly higher in peripheral lymphocytes and spermatozoa of infertile men compared with donors. There was a positive correlation between the incidence of chromosome aneuploidies in the somatic cells and sperm in all men. CONCLUSION(S): These findings provide suggestive evidence for the importance of mitosis in spermatogenesis and the role of mitotic instability in unexplained oligozoospermia.

Adolescent↗
PubMed2003

Sperm chromosomal abnormalities are linked to sperm morphologic deformities.

OBJECTIVE: To describe the association between specific sperm morphologic abnormalities and sperm chromosomal abnormalities on multicolor interphase fluorescence in situ hybridization (FISH). DESIGN: Case report. Reproductive medicine unit in a tertiary referral center. PATIENT(S): Three infertile men with severe oligoasthenospermia and total teratozoospermia who were referred for IVF treatment. MAIN OUTCOME MEASURE(S): Incidence of spermatozoal chromosomal aneuploidy for chromosome 18 and the sex chromosomes by using FISH. RESULT(S): Morphologic assessment of sperm revealed a high incidence of double heads, multinucleated sperm heads, and multiple tails. Hormone profiles and karyotyping of peripheral lymphocytes were normal in the three men. The proportion of sperm with disomy, trisomy and tetrasomy for chromosome 18, and the sex chromosomes in each patient was 100%, 76%, and 82.5%, respectively. CONCLUSION(S): Specific morphologic abnormalities of sperm may be associated with higher incidence of chromosomal abnormalities. Resolving infertility by offering patients in vitro fertilization/intracytoplasmic sperm injection must be approached with caution because of the significant risk for embryonic aneuploidy and chromosomal abnormalities in any subsequent offspring.

Adult↗
PubMed2003

Meiotic behavior of the sex chromosomes in a 45,X/46,X,r(Y)/46,X,dic r(Y) patient whose semen was assessed by fluorescence in situ hybridization.

OBJECTIVE: To determine the meiotic behavior of a ring Y chromosome in a semen sample from a 45,X/46,X,r(Y)/46,X,dic r(Y) patient and the possible interchromosomal effects of the ring on other chromosome pairs. DESIGN: Retrospective analysis. SETTING: Universitat Autònoma de Barcelona. PATIENT: An oligoasthenoteratozoospermic patient who presented for infertility consultation. MAIN OUTCOME MEASURE(S): The sex chromosome content of spermatogenic cells, meiotic figures, and spermatozoa in the ejaculate and the possible interchromosomal effects on chromosomes 13, 18, and 21 were analyzed by using multicolor fluorescence in situ hybridization. Germ-cell aneuploidies were scored. RESULT(S): X0 cells are meiotically incompetent. All meiotic figures were exclusively XY, and 80% showed unpaired sex chromosomes. A high proportion of postreductional cells were XY (45.5%) or nullisomic for sex chromosomes (13.92%). This percentage decreased in spermatozoa to 14.89% and 27.66%, respectively. A statistically significant increase in X-bearing versus Y-bearing cells both in postreductional cells (23.9% vs. 14.3%) and spermatozoa (41.9% vs. 19.3%) was also observed. Evidence for an interchromosomal effect on chromosome 21 was detected. CONCLUSION(S): Data suggest that this patient had a generalized increase incidence of chromosome anomalies, underscoring the importance of incorporating screening for sperm aneuploidies in genetic analysis of affected patients.

Chromosomes, Human, Pair 13↗
PubMed1998

Smoking cigarettes is associated with increased sperm disomy in teenage men.

OBJECTIVE: To determine whether moderate cigarette smoking and alcohol consumption in teenage men is associated with increases in disomic sperm and detectable changes in semen quality. DESIGN: Cohort study. SETTING: Military recruiting station, Teplice, Czech Republic. PATIENT(S): Ten current smokers (20 cigarettes per day for at least 2 years, exposure confirmed by urine cotinine) who also consumed alcohol and 15 nonsmokers. All patients were exactly 18 years old, healthy, and of unproven fertility. MAIN OUTCOME MEASURE(S): Sperm aneuploidy by multicolor fluorescence in situ hybridization for chromosomes 8, X, and Y; conventional semen analyses; computer-aided sperm analysis for motility; and sperm chromatin structure analysis. RESULTS: Smokers showed elevated frequencies of sperm aneuploidy (Y disomy, P <0.001; aggregate of X, Y, and 8 disomies, P <0.01); reduced linearity of sperm motion (P <0.05); and more "round-headed" sperm (P <0.01). Smokers' semen contained fewer sperm (P <0.001) and fewer motile sperm (P <0.02), which was attributable, in part, to shorter abstinence intervals among smokers (P <0.02). CONCLUSION(S): Cigarette smoking among teenagers was associated with increases in disomic sperm and a diminution in specific aspects of semen quality. Such defects may affect male fertility and may increase future chances of fathering offspring with aneuploidy syndromes.

Adolescent↗