Abstract:
:Spinal muscular atrophy (SMA), the leading genetic cause of death in childhood, is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness, associated with deletions of the survival motor neuron 1 (SMN1) gene. Approximately 94% of SMA patients carry homologous deletions of SMN1 exon(s) 7 (and 8). Because of the high incidence and severity of the disease, precise detection and quantification of SMN1 and SMN2 gene copy numbers is essential for diagnosis and genetic counseling. We have developed a reliable single-tube tetra-primer PCR assay to simultaneously detect both the SMN1 and SMN2 exon 7 deletion using the advantage of C/T difference at nucleotide position of 840 in exon 7. The assay has been optimized and tested in 48 healthy controls, 20 known patients with SMA, 12 carriers (one SMN1 copy), and 8 amniotic fluids suspected of having SMA for whom we had determined the SMN1/SMN2 deletion by an additional PCR-RFLP method. We have observed complete concordance between methods. Our tetra-primer PCR assay is sensitive, low-cost, and easy to use method for simultaneous detection of both SMN1 and SMN2 deletion, which could be used even in "low-tech" laboratories.
journal_name
Mol Cell Probesjournal_title
Molecular and cellular probesauthors
Baris I,Etlik O,Koksal V,Arican-Baris STdoi
10.1016/j.mcp.2009.12.001subject
Has Abstractpub_date
2010-06-01 00:00:00pages
138-41issue
3eissn
0890-8508issn
1096-1194pii
S0890-8508(09)00084-Xjournal_volume
24pub_type
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journal_title:Molecular and cellular probes
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pub_type: 杂志文章
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更新日期:2019-06-01 00:00:00
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journal_title:Molecular and cellular probes
pub_type: 杂志文章
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更新日期:1992-04-01 00:00:00
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journal_title:Molecular and cellular probes
pub_type: 杂志文章
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更新日期:1994-12-01 00:00:00
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journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1998.0170
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pub_type: 杂志文章
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更新日期:1987-09-01 00:00:00