2018
DOI: 10.32604/biocell.2018.07016
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The impact of paralog genes: detection of copy number variation in spinal muscle atrophy patients

Abstract: Spinal muscular atrophy (SMA) is caused by dysfunction of the alpha motor neurons of the spinal cord.It is an autosomal recessive disease associated to the SMN1 gene, located in the subtelomeric region of 5q13. A paralog SMN2 gene is located at the centromeric region of the same chromosome, which apparently originated by an ancestral inverted duplication occurring only in humans. The exon sequence differs in two nucleotides in exon 7 and exon 8, which leads to an SMN2 transcript that lacks exon 7 and results i… Show more

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“…The qualitative data are expressed as constituent ratios, and analyzed with the chi-square test. Hardy-Weinberg equilibrium (HWE) for the different polymorphisms was calculated using the chi-square test [12,13]. LVH was considered as dependent variable, while the relevant factors as the independent variables in the logistic regression analysis.…”
Section: Methodsmentioning
confidence: 99%
“…The qualitative data are expressed as constituent ratios, and analyzed with the chi-square test. Hardy-Weinberg equilibrium (HWE) for the different polymorphisms was calculated using the chi-square test [12,13]. LVH was considered as dependent variable, while the relevant factors as the independent variables in the logistic regression analysis.…”
Section: Methodsmentioning
confidence: 99%