Development and validation of the high-quality `Rapid Method for Swab (RMS) to genotype the HTTLPR serotonin transporter (SLC6A4) promoter polymorphism

摘要

BackgroundThe importance of genetic variation to the etiology of neuropsychiatric disorders is well established and is currently being examined for diagnosis and treatment. The most popular method of obtaining material for genotype analysis, high-yielding DNA extraction from blood, has several limitations, including invasiveness, need for skilled individuals to collect material, and requirement for cold storage. Saliva sampling is non-invasive and trained personnel are less necessary, but it still requires a relatively high level of subject compliance. Buccal mucosa cells sampling is almost completely non-invasive, reducing compliance issues significantly. Samples collected have been shown to produce usable DNA after shipment through conventional mail. However, the DNA produced by rapid elution of these swabs in chaotropic buffers is of limited quality and low purity.