Genotyping detection: A convenient and rapid technique for mutation detection in genetic disease using the handy bio-strand technique

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Using genetic Gaucher disease (GD) as a model of single gene disorder, we were able to detect a point mutation (or SNP) in DNA samples extracted from patients, using a convenient and rapid detection method: Handy Bio-Strand (microarray). GD is the most prevalent lysosomal storage disorders of humans. The disorder is caused by deficiency of the enzyme glucocerebrosidase, leading to pathological accumulation of glucosylceramide in the cells of spleen, liver, lungs, bone marrow and also, in certain patients, in the brain. There are, at least, three phenotypes of the diseases, type-I (non-neuronopathic form), type-II (acute-neuronopathic form), and type-III (chronic-neuronopathic form). In the type-I GD, one of the most frequent mutations is N370S (1226A>G). Based on previous three-dimensional Handy Bio-Strand platform developed by PSS, the samples were spotted on one strand with capacity of holding 384 samples in one microarray tip, in which the hybridization and detection are carried out at about 20 min at room temperature. Thus, we report here a rapid and convenient procedure for the detection of this genotype using the novel Handy Bio-Strand^® Technique, this technique should be also useful for application in the field for genotyping, detection research and biomarker validation.