PCR-RFLP evidences peculiarities in Spinal Muscular Atrophy among Cuban Patients
<p>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 a...
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| Main Authors: | , , , |
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| Format: | Book |
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Journal of Neurology, Neurological Science and Disorders - Peertechz Publications,
2017-09-15.
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| Online Access: | Connect to this object online. |
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| Summary: | <p>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.</p> |
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| DOI: | 10.17352/jnnsd.000021 |