Autosomal recessive spinal muscular atrophy is caused by mutations in the survival motoneuron (SMN ) gene. There are two nearly identical copies of this gene present on chromosome 5q13; however, only the telomeric copy of this gene is affected in spinal muscular atrophy. In this study, we describe a new method to detect SMN gene deletion by denaturing high-performance liquid chromatography, which is also simple to perform but is faster and more specific. (J Child Neurol 2003;18:269—271).
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References
1.
Brzustowicz LM, Lehner T., Castilla LH, et al: Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3 . Nature1990;344:540—541.
2.
Lefebvre S., Burglen L., Reboullet S., et al:Identification and characterization of a spinal muscular atrophy-determining gene. Cell1995;80:155—165.
3.
Bussaglia E. , Clermont O., Tizzano E., et al:A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients . Nat Genet1995;11:335—337.
4.
van der Steege G., Grootscholten PM, van der Vlies P., et al: PCRbased test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet1995;345:985—986.
5.
Huber CG, Oefner PJ, Preuss E., Bonn GK: High-resolution liquid chromatography of DNA fragments on non-porous poly(styrenedivinylbenzene) particles. Nucleic Acids Res1993;21:1060—1066.
6.
Jones AC, Sampson JR, Hoogendoorn B., et al: Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis. Hum Genet2000;106:663—668.
7.
O'Donovan Mc , Oefer PJ, Roberts SC, et al: Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. Genomics1998;52:44—49.
