Abstract: Purpose Through the study of the copy number variations in the two sisters with reproductive abnormalities, we discussed the influence of the genome copy number variations and environmental pollutant---benzene on the reproductive abnormalities. Materials and Methods The current study centered on a family, including two sisters with the reproductive abnormalities after working with benzene for two years, their brother, and their sons. The peripheral blood was collected; then Karyotyping, cytokinesis-block micronucleus and array comparative genomic hybridization were performed, as well as the four typical genes of PSGs in the common lost region of two sisters’ chip results were analyzed by real-time polymerase chain reaction. Results There are no abnormalities on the chromosomal G-bands of the five people. The micronuclear rates of the two sisters are higher than those of the other three subjects and normal range. The results of the gene-chips revealed that the two sisters have a common lost region in 19q13.31. The results of real-time PCR and chips were consistent with each other. Conclusion PSGs play a role in normal pregnancy; person with haploid is more vulnerable by environmental factors; benzene as an environmental pollutant seriously affects human health.

Key words: Benzene, CBMN, aCGH, PSG