Structural chromosome aberrations are a predictive biomarker of cancer risk. Conventional chromosome analysis widely used for these purposes detects unstable chromosome aberrations that are eliminated during cell division. Stable aberrations that may persist in the body and tend to accumulate during a lifetime can be detected by fluorescence in situ hybridization (FISH). The aim of the study was to investigate the level of chromosome damage in newly diagnosed cancer patients and control subjects by FISH. Both groups of untreated cancer patients had increased frequency of aberrant cells. However, chromosome damage affected different cytogenetic endpoints. Stable translocations and cells with complex rearrangements were elevated in breast cancer patients whereas unstable chromosome aberrations (dicentric chromosomes and acentric fragments) were elevated in gastrointestinal cancer patients. These associations observed in nonsmokers were typically not pronounced in smokers (with the exception of dicentric chromosomes in gastrointestinal patients). Exposure to tobacco smoke increased aberrations in healthy controls but not in the cancer patients. Our study suggests an association between cancer and stable chromosomal rearrangements in breast cancer patients. Unstable aberrations elevated in gastrointestinal cancer patients may be at least partly ascribed to the exposure to diagnostic X-rays.
- MeSH
- Chromosome Aberrations * MeSH
- Gastrointestinal Neoplasms genetics MeSH
- In Situ Hybridization, Fluorescence MeSH
- Humans MeSH
- Lymphocytes * MeSH
- Breast Neoplasms genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
Globozoospermia, characterised by the presence of round spermatozoa lacking acrosomes in an ejaculate, is a known cause of male infertility. Semen analysis, including sperm chromatin structure assay, toluidine blue, chromomycin A3 and aniline blue staining and fluorescence in situ hybridisation, was performed in an infertile globozoospermic patient to establish to which extent these genetic factors contributed to his infertility. No spermatozoa capable of hyaluronan (HA) binding were detected in the HA binding assay. Increased rates of immature spermatozoa with defective replacement of histones by protamines, DNA breaks and disturbed chromatin integrity and sperm aneuploid for the sex chromosomes were observed. Intracytoplasmic sperm injection (ICSI) was used in three in vitro fertilisation (IVF) cycles, and enough morphologically well-developing embryos were obtained in each cycle. However, no pregnancy was achieved. The infertility of our couple, resistant to IVF/ICSI treatment, was most probably caused by a combination of male and female factors.
- MeSH
- Semen Analysis methods MeSH
- Aneuploidy * MeSH
- Adult MeSH
- In Situ Hybridization, Fluorescence MeSH
- Middle Aged MeSH
- Humans MeSH
- Infertility, Male genetics MeSH
- DNA Breaks MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
The karyotypic evolution in the family Bovidae is based on centric fusions of ancestral acrocentric chromosomes. Here, the frequency and distribution of meiotic recombination was analyzed in pachytene spermatocytes from Bos taurus (2n = 60) and 3 wildebeest species (Connochaetes gnou, C. taurinus taurinus and C. t. albojubatus) (2n = 58) using immunofluorescence and fluorescence in situ hybridization. Significant differences in mean numbers of recombination events per cell were observed between B. taurus and members of the genus Connochaetes (47.2 vs. 43.7, p < 0.001). The number of MLH1 foci was significantly correlated with the length of the autosomal synaptonemal complexes. The average interfocus distance was influenced by interference. The male recombination maps of bovine chromosomes 2 and 25 and of their fused homologues in wildebeests were constructed. A significant reduction of recombination in the fused chromosome BTA25 was observed in wildebeests (p = 0.005). This was probably caused by interference acting across the centromere, which was significantly stronger than the intra-arm interference. This comparative meiotic study showed significant differences among the species from the family Bovidae with the same fundamental number of autosomal arms (FNa = 29) which differ by a single centric fusion.
- MeSH
- Centromere genetics MeSH
- In Situ Hybridization, Fluorescence MeSH
- Meiosis * MeSH
- Pachytene Stage MeSH
- Sex Chromosomes genetics MeSH
- Ruminants genetics MeSH
- Cell Cycle Proteins genetics MeSH
- Recombination, Genetic * MeSH
- Chromosomes, Mammalian genetics MeSH
- Cattle genetics MeSH
- Spermatocytes cytology MeSH
- Synaptonemal Complex genetics MeSH
- Testis cytology MeSH
- Animals MeSH
- Check Tag
- Male MeSH
- Cattle genetics MeSH
- Animals MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Comparative Study MeSH
BACKGROUND: Non-obstructive azoospermic (NOA) men can father children after testicular sperm extraction (TESE). Previous studies suggest that they may be at risk of producing chromosomally abnormal spermatozoa, but the number of sperm analysed per patient was usually very low. METHODS: Multicolour fluorescence in situ hybridization was used for detection of chromosome 13, 15, 16, 18, 21, 22, X and Y disomy and diploidy in sperm obtained from NOA men (n = 17) and control donors (n = 10). At least 500 testicular sperm were scored in each patient to increase the precision of our study. RESULTS: The mean frequency of overall disomy (2.32%) and diploidy (0.80%) found in 13 689 testicular spermatozoa of NOA patients was significantly higher than in the ejaculated sperm of normospermic control donors, disomy (0.62%) and diploidy (0.29%). A highly significant increase in frequencies of chromosome 15, Y and overall disomy (P < 0.001), and a significant increase in disomy of chromosome 13 (P = 0.002), 16 (P = 0.031) and 21 (P = 0.018), overall diploidy (P = 0.031) and diploidy caused by errors in meiosis I (P = 0.011) were observed in the NOA group. CONCLUSIONS: Testicular sperm samples of NOA patients show a higher incidence of numerical chromosomal abnormalities compared with ejaculated sperm of control donors. Appropriate genetic counselling is necessary in NOA men undergoing TESE.
- MeSH
- Aneuploidy MeSH
- Azoospermia genetics MeSH
- Chromosome Aberrations MeSH
- Adult MeSH
- In Situ Hybridization, Fluorescence MeSH
- Middle Aged MeSH
- Humans MeSH
- Chromosome Mapping MeSH
- Meiosis MeSH
- Embryo Transfer MeSH
- Risk MeSH
- Aged MeSH
- Spermatozoa pathology MeSH
- Testis pathology MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
BACKGROUND: The swim-up and hyaluronan (HA)-binding methods are used for the selection of good quality spermatozoa to improve pregnancy rates and embryo quality and to reduce the number of miscarriages after IVF. We evaluated whether the processing of sperm by these methods reduces the frequency of spermatozoa with abnormal karyotypes and altered chromatin quality in balanced translocation carriers. METHODS: Semen samples of 12 carriers of balanced chromosomal translocations were analysed for the frequency of spermatozoa, which are chromosomally unbalanced due to the segregation of balanced translocations, aneuploidies for chromosomes 7, 8, 13, 18, 21, X or Y, diploid sperm or sperm with fragmented DNA and poorly condensed chromatin. Results obtained by fluorescence in situ hybridization (FISH) and sperm chromatin structure assay were compared between ejaculated (n = 12), swim-up (n = 12) and HA-binding processed (n = 6) semen samples of the translocation carriers and with the control group (n = 10). RESULTS: The mean frequencies of unbalanced segregation products were 17.5 and 16.5% in neat and swim-up processed samples from Robertsonian translocation carriers, and 55.4, 54.5 and 50.9% in neat, swim-up and HA-bound sperm samples from reciprocal translocation carriers. Significant decreases in the frequency of sperm showing chromosome 18 and XY disomy and of diploidy, and in the rates of high-density staining sperm were observed in the motile swim-up fractions. There were significantly more sperm showing fragmented chromatin in the group of translocation carriers than in the control group, but no differences in the aneuploidy and diploidy rates were observed. CONCLUSIONS: The swim-up method is suitable for selection of sperm with condensed chromatin and a lower frequency of some aneuploidies and of diploidy. The frequency of spermatozoa chromosomally unbalanced due to the segregation of reciprocal (but not Robertsonian) translocations is significantly lower in HA-bound sperm. However, the advantages of either method for selecting normal sperm are limited.
- MeSH
- Semen Analysis methods MeSH
- Adult MeSH
- Heterozygote MeSH
- In Situ Hybridization, Fluorescence MeSH
- Hyaluronic Acid analysis MeSH
- Humans MeSH
- Chromosome Segregation MeSH
- Spermatozoa abnormalities MeSH
- Translocation, Genetic MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- MeSH
- Aneuploidy MeSH
- Fertilization in Vitro methods MeSH
- In Situ Hybridization, Fluorescence utilization MeSH
- Humans MeSH
- Spermatozoa pathology MeSH
- Translocation, Genetic MeSH
- Check Tag
- Humans MeSH
- Publication type
- Evaluation Study MeSH
Východisko. Je známo, že různé expozice mužů chemickými látkami mohou významně zhoršit kvalitu i kvantitu produkovaných spermií. Cílem naší studie bylo ověřit, zda znečištěné ovzduší v okrese Teplice má negativní vliv na kvalitu spermií u mužů žijících v tomto okrese. Metody a výsledky. Bylo vyšetřeno 325 18letých mužů žijících v okrese Teplice a v kontrolní oblasti Prachatice. Odběry vzorků proběhly v roce 1992 a 1994 vždy na konci zimy a na podzim. Podle SZO laboratorního manuálu pro vyšetření lidského semene byly stanoveny základní spermatologické parametry: objem semene, pH, pohyb, počet a morfologie spermií. U vybraných skupin mužů byla také vyšetřena frekvence aneuploidií ve spermiích. Vyšetření aneuploidií bylo provedeno pomocí tříbarevné fluorescenční in situ hybridizace s využitím satelitních DNA sond specifických pro chromozómy X, Y a 8. Pro analýzu dat byla použita logistická regrese. Byly stanoveny odd’s ratio (OR’s). Vzrůst OR’s byl zjištěn pro morfologii spermií (4,1 a 10,1 pro expozici střední, resp. vysokou), pro morfologii hlavičky (6,1 a 4,1) a u procenta motilních spermií (9,8 a 3,5). Více exponovaní muži měli zvýšenou frekvenci disomií chromozómů X (p=0,012), XY (p=0,01) a Y (p<0,001). Závěry. Použité bioindikátory toxického a genetického poškození spermií ukazují na zhoršenou kvalitu spermií u teplických mužů.
Backgrounds. It has been described that an exposition of males to chemical substances may significantly impoverish quality and quantity of produced spermatozoa. The aim of our study was to test whether the polluted air in the Teplice district has negative effects on the quality of sperm of males living in this district. Methods and Results. 325 males 18-year-old living in the Teplice district and in the control district of Prachatice were tested. Samples were taken in 1992 and 1994, always at the end of winter and in autumn. According to WHO laboratory manual for investigation of the human sperm, basic parameters were determined: volume of the semen, pH, motility, number and morphology of spermatozoa. In selected groups of males the frequency of aneuploidia of spermatozoa was also examined. Examination of aneuploidia was done using three color fluorescence in situ hybridisation with satellite DNA proves specific for X, Z and 8 chromosomes. Logistic regression was used for the data analysis and Odd’s Ratio was estimated (OR’s). OR’s was found for the morphology of spermatozoa (4.1 and 10.1 for medium and high exposition respectively), for the head morphology (6.1 and 4.1) and in the percentage of motile spermatozoa (9.8 and 3.5). More intensively exposed males had higher frequency of disomy in chromosomes X (p=0.012), XY (p=0.01), and Y (p<0.001). Conclusions. Bio-indicators of toxic and genetic impairment have shown lower quality of sperm in males in Teplice district.
- MeSH
- Aneuploidy MeSH
- Biomarkers MeSH
- Adult MeSH
- Research Support as Topic MeSH
- In Situ Hybridization, Fluorescence methods MeSH
- Humans MeSH
- Sulfur Dioxide MeSH
- Seasons MeSH
- Spermatozoa anatomy & histology pathology MeSH
- Air Pollution MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Review MeSH
- Comparative Study MeSH
- Geographicals
- Czech Republic MeSH
