Publication: Carrier frequency of spinal muscular atrophy in Thailand
Issued Date
2019-08-01
Resource Type
ISSN
15903478
15901874
15901874
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2-s2.0-85064595517
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Mahidol University
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SCOPUS
Bibliographic Citation
Neurological Sciences. Vol.40, No.8 (2019), 1729-1732
Suggested Citation
Donniphat Dejsuphong, Aruchalean Taweewongsounton, Pollawat Khemthong, Sermsiri Chitphuk, Wasana Stitchantrakul, Piyamitr Sritara, Atchara Tunteeratum, Thanyachai Sura Carrier frequency of spinal muscular atrophy in Thailand. Neurological Sciences. Vol.40, No.8 (2019), 1729-1732. doi:10.1007/s10072-019-03885-5 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/51493
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Title
Carrier frequency of spinal muscular atrophy in Thailand
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Abstract
© 2019, Fondazione Società Italiana di Neurologia. Spinal muscular atrophy (SMA) is one of the leading causes of death in infants and young children from heritable diseases. Patients diagnosed with SMA develop symmetrical progressive muscle weakness and atrophy from degeneration of alpha motor neurons. Approximately 95% of patients have a homozygous deletion of survival motor neuron 1 (SMN1) gene in exon 7 and inherited in autosomal recessive pattern. Considering the high prevalence of SMA carrier in many population, it is possible that SMA is one of the most common autosomal recessive disorders in Thailand and Southeast Asia. In this study, we analyzed DNA from peripheral blood of 505 healthy Thai adults using quantitative PCR-based for SMN1 gene exon 7 copy number analysis. Individual samples with heterozygous deletion of SMN1 gene were confirmed with MLPA. The result identified 9 samples (1.78%) with heterozygous deletion and 39 samples as more than 2 copies of SMN1. No homozygous deletion was detected in the samples. In conclusion, we established carrier frequency of SMA in selected Thai population at 1.8% from 505 participants. The prevalence coincides with prevalence in East Asia and Caucasian population. The result could be implemented for SMA carrier screening in couples at risk in the region.