Journal du syndrome de Down et des anomalies chromosomiques
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Genotyping of Single Nucleotide Polymorphisms in Down syndrome

Daniel Lerda

Buccal epithelial cells extracted from saliva have been used as an alternative source of human DNA, especially from newborns and patients with mental illnesses. To ensure that appropriate conditions for DNA extraction, storage, and genotyping were created, healthy volunteers with no history of genetic or neurological disease were included as controls. The research involved 100 children with Down syndrome (DS), 50 of whom had oral motor problems. To achieve highquality genomic DNA for screening gene polymorphisms by traditional and real-time PCR, a buccal swab and/or mouthwash technique is used before teeth brushing. For routine evaluation of genetic variations in DS patients, extraction of genomic DNA from buccal epithelial cells proved to be an effective, convenient, inexpensive, and noninvasive technique.