Spinal muscular atrophy patient detection and carrier screening using dried blood spots on filter paper
| Autor: | Indra Sari Kusuma Harahap, Imam Rusdi, Nur Imma Fatimah Harahap, Huyen Thi Van Pham, Tri Budi Hartomo, Dian Kesumapramudya Nurputra, Satoru Morikawa, Hisahide Nishio, Noriyuki Nishimura, Retno Widiastuti, Richard Hideki Kaszynski, Tomoto Yamamoto |
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| Rok vydání: | 2011 |
| Předmět: |
Male
Pathology medicine.medical_specialty Gene Dosage SMN1 Biology Spinal Muscular Atrophies of Childhood Real-Time Polymerase Chain Reaction Sensitivity and Specificity law.invention Lesion Exon law medicine Humans Copy-number variation Genetic Testing Child Genetics (clinical) Polymerase chain reaction Dried Blood Spot Testing Sequence Deletion Blood Specimen Collection Genetic Carrier Screening Infant General Medicine Spinal muscular atrophy Exons medicine.disease SMA Survival of Motor Neuron 1 Protein nervous system diseases Survival of Motor Neuron 2 Protein Child Preschool Female medicine.symptom |
| Zdroj: | Genetic testing and molecular biomarkers. 16(2) |
| ISSN: | 1945-0257 |
| Popis: | Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder. It is caused by mutations in the SMN1, and its clinical severity is modified by copy number variations of the SMN2. According to previous studies, deletion of SMN1 exon 7 is the most frequently observed in patients with SMA. Therefore, molecular analyses exploiting this genetic lesion could be beneficial in the diagnosis of SMA. Unfortunately, in many geographical regions, physicians do not have the latest molecular screening technologies at their immediate disposal. Thus, to overcome this issue, we developed an SMA-diagnosing system using dried blood spots (DBS) placed on filter paper to facilitate remote diagnosis.In this study, we validate the applicability of DBS on Flinders Technology Associates (FTA) filter paper for detecting SMN1 exon 7 deletions and copy number variations of SMN1 and SMN2. To detect exon 7 deletions in SMN1, polymerase chain reaction (PCR)-restriction fragment length polymorphism analysis was conducted by using DNA extracted from the DBS on FTA filter paper that had been stored at room temperature for a period of up to 4 years. To determine the copy numbers of SMN1 and SMN2, we carried out SYBR green-based real-time PCR by using the same blood specimens.The results obtained from the DBS on FTA filter paper were in complete concordance with those analyses using fresh blood specimens. This indicates that DBS on filter papers is a reliable method for SMA patient detection and carrier screenings.The SMA-diagnosing system, combined with the mailing of DBS on filter paper, will be beneficial for patients suffering from neuromuscular disorders in areas with limited or no access to diagnostic facilities with molecular capabilities. |
| Databáze: | OpenAIRE |
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