BACKGROUND The aim of this study was to develop and use theoretical models to investigate the accuracy of the fluorescence in situ hybridization (FISH) technique in testing a single nucleus from a preimplantation embryo without the complicating effect of mosaicism. METHODS Mathematical models were constructed for three different applications of FISH in preimplantation genetic testing (sex det...

Aneuploidy is frequently associated with disease and developmental abnormalities. It is also a key characteristic of cancer. Several model systems have been developed to study the role of chromosomal instability and aneuploidy in tumorigenesis. The results are surprisingly complex, with the conditions sometimes promoting and sometimes inhibiting tumour formation. Here, we review the effects of ...

Because p53 mutation and aneuploidy usually coexist, it has been suggested that p53 inactivation leads to aneuploidy. We have rigorously tested this hypothesis in diploid human cell lines in which p53 was experimentally inactivated by targeted homologous recombination. Cells completely deficient in p53 did not become aneuploid, although a slight tendency toward tetraploidization was observed. N...

The long-term biological effects of wear debris are unknown. We have investigated whether there is any evidence of cumulative mutagenic damage in peripheral blood lymphocytes of patients undergoing revision arthroplasty of predominantly metal-on-plastic total hip replacements compared with those at primary arthroplasty. There was a threefold increase in aneuploidy and a twofold increase in chro...

A female with suspected Down syndrome was born by vaginal delivery at 37 weeks 2 days’ gestation to a mother with a history of Type A2 gestational diabetes mellitus. Routine prenatal testing consisted of a non-invasive screening test for aneuploidy. Results, presented in Table 1, indicated an aneuploidy for trisomy of chromosome 21, indicating an increased risk for Down syndrome. Prenatal confi...

Telomerase maintains ends of eukaryotic chromosomes, telomeres. Telomerase loss results in replicative senescence and a switch to recombination-dependent telomere maintenance. Telomerase insufficiency in humans leads to telomere syndromes associated with premature ageing and cancer predisposition. Here we use yeast to show that the survival of telomerase insufficiency differs from the survival ...

The many complex phenotypes of cancer have all been attributed to “somatic mutation.” These phenotypes include anaplasia, autonomous growth, metastasis, abnormal cell morphology, DNA indices ranging from 0.5 to over 2, clonal origin but unstable and non-clonal karyotypes and phenotypes, abnormal centrosome numbers, immortality in vitro and in transplantation, spontaneous progression of malignan...

BACKGROUND Human embryos produced by in vitro fertilization (IVF) are usually cultured to day 6 after insemination, and good quality of embryos should develop to blastocyst stage at days 5 and 6. However, some embryos develop slowly, thus they may form blastocysts on day 7. Most IVF laboratories culture embryos to day 6 and then discard retarded embryos that do not develop to blastocyst stage. ...