Establishment of a Molecular Diagnostic System for Spinal Muscular Atrophy Jian Zeng, Yanhong Lin, Aizhen Yan, Longfeng Ke, Zhongyong Zhu, Fenghua Lan

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Presentation transcript:

Establishment of a Molecular Diagnostic System for Spinal Muscular Atrophy Jian Zeng, Yanhong Lin, Aizhen Yan, Longfeng Ke, Zhongyong Zhu, Fenghua Lan The Journal of Molecular Diagnostics Volume 13, Issue 1, Pages 41-47 (January 2011) DOI: 10.1016/j.jmoldx.2010.11.009 Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 Pedigree and putative genotypes inferred from families 17 and 24. The Journal of Molecular Diagnostics 2011 13, 41-47DOI: (10.1016/j.jmoldx.2010.11.009) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 2 Genomic DNA sequence of exon 1 of the survival motor neuron (SMN) gene from the father in family 25. The father had an “A” insertion (indicated by the box) at codon 8 (underlined), resulting in a frame shift on this allele (mutated allele). The Journal of Molecular Diagnostics 2011 13, 41-47DOI: (10.1016/j.jmoldx.2010.11.009) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 3 Histogram showing the results of 18 fetuses by multiplex ligation–dependent probe amplification (MLPA) analysis for SMN1 and SMN2 copy numbers. The Journal of Molecular Diagnostics 2011 13, 41-47DOI: (10.1016/j.jmoldx.2010.11.009) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions