Genomic Instability in Down Syndrome Using Buccal Micronuclei Cytome Assay

Objectives: To assess the genomic instability by assessing the frequency of micronuclei and other nuclear anomalies in buccal exfoliated cells of Down`s syndrome patients and other autism spectrum disorders in comparison with normal subjects.
Methods: Sample size: n=20 patients with Down Syndrome; n=20 age and gender matched healthy controls
Twenty cases of patients with Down Syndrome were selected from Down Syndrome Society, Chennai. Buccal exfoliated cells were collected using the moist wooden spatula. The cells were smeared on the slide and fixed in isopropyl alcohol followed by staining with DNA specific stain, acridine orange. Scoring of micronuclei and the nuclear anomalies was done using fluoroscent and confocal. Statistical significance was assessed using student t test and p value ascribed at p<0.05.
The study is futher progessed to n=30 subjects of other autism spectrum disorders and n=30 healthy controls and buccal cytome assay was performed for micronuclei and other nuclear anomalies to assess the increase in comparison with down syndrome and other healthy controls.
Results: There was a significant increase in micronuclei (p<0.05) and average increase in other nuclear anomalies like binucleated cells and nuclear buds in Down syndrome patients compared to the healthy controls.
Conclusions: In conclusion this study can be used to identify the extent of DNA damage and progression of the disease in Down syndrome patients. The study also provides potential future diagnostics to identify individuals of increased risk for these disorders and timely preventative intervention prior to the severity of the disease advancing to more
critical stages.