PCR-RFLP evidences peculiarities in Spinal Muscular Atrophy among Cuban PatientsJournal: Journal of Neurology, Neurological Science and Disorders (Vol.3, No. 1)
Publication Date: 2017-12-13
Authors : Pita Rodríguez M Zaldívar Vaillant T Zayas Guillot M Alvarez González MA;
Page : 051-052
Keywords : ;
Spinal Muscular Atrophy (SMA) is a lethal, autosomal recessive, neurodegenerative disorder characterized by progressive muscle weakness. SMA has an incidence of 1 in 6000-10000 live-births and a carrier frequency of 1:38–50 . Previous reports describe genotype and frequency differences among ethnic groups [2,3]. In around 95% SMA results from the loss of SMN1 gene . SMA can be classified into five clinical grades based on age of onset and severity. Cuba has a high degree of admixture , and previous studies in this population report a different SMN1homozygous deletion frequency , and skin color distribution of SMA I . In this study, a molecular characterization of one hundred sixtythree patients was performed by PCR-RFLP methods regarding gender and skin color distribution.
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