Detection of a novel chromosomal translocation and chromosomal instability in women with recurrent abortions.
OBJECTIVE
To identify a novel chromosomal translocation associated with recurrent abortion and measure DNA chromosomal instability in cells from these patients.


METHODS
Chromosomal karyotyping analysis was performed on cultures of peripheral blood lymphocytes by using the GTG-banding method. The chromosomal instability of patients and matched controls was tested by measuring the hypersensitivity to the clastogenic effect of the DNA cross-linking agent 1-3-butadiene diepoxide.


RESULTS
A novel chromosomal translocation, t(2;10) (p21;pl5), was found in 2 young women who had a reproductive history of early recurrent spontaneous abortions (7-10 weeks). In addition to the abnormal karyotypes, cultured patient lymphocytes showed increased chromosomal fragility/instability as compared with normal controls. This chromosomal instability was further enhanced by the DNA clastogenic agent diepoxybutane.


CONCLUSIONS
Although the relationship between this chromosomal translocation and the DNA fragility in these patients is not well understood, this study showed for the first time a link between the presence of this novel chromosomal translocation and complete early embryonic lethality. Additional studies should be undertaken to identify the gene or genes affected by this translocation and may shed some light on the relationship between this chromosomal translocation and chromosomal instability.
Alkhalaf
Moussa
M
Department of Biochemistry, Faculty of Medicine, Kuwait University, Kuwait. alkhalaf@hsc.edu.kw
D000022:Abortion, Spontaneous / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations; D002873:Chromosome Fragility; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D005260:Female; D006801:Humans; D011247:Pregnancy; D012008:Recurrence; D014178:Translocation, Genetic / Q000235:genetics*