PCR-RFLP evidences peculiarities in Spinal Muscular Atrophy among Cuban Patients

Pita Rodríguez M*, Zaldívar Vaillant T, Zayas Guillot M, Alvarez González MA

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 [1]. Previous reports describe genotype and frequency differences among ethnic groups [2,3]. In around 95% SMA results from the loss of SMN1 gene [4]. SMA can be classified into five clinical grades based on age of onset and severity. Cuba has a high degree of admixture [5], and previous studies in this population report a different SMN1homozygous deletion frequency [6], and skin color distribution of SMA I [2]. 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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Published on: Sep 15, 2017 Pages: 51-52

Full Text PDF Full Text HTML DOI: 10.17352/jnnsd.000021
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