USE OF SINGLE-STRAND CONFORMATION POLYMORPHISM ANALYSIS TO DETECT POINT MUTATIONS IN HUMAN MITOCHONDRIAL-DNA

被引:35
作者
SUOMALAINEN, A
CIAFALONI, E
KOGA, Y
PELTONEN, L
DIMAURO, S
SCHON, EA
机构
[1] COLUMBIA UNIV,DEPT NEUROL,NEW YORK,NY 10027
[2] COLUMBIA UNIV,DEPT GENET & DEV,NEW YORK,NY 10027
关键词
SINGLE STRAND CONFORMATION POLYMORPHISM; MITOCHONDRIAL DNA; MERRF; MYOCLONUS EPILEPSY; POINT MUTATION; POLYMORPHISM;
D O I
10.1016/0022-510X(92)90074-U
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Myoclonus epilepsy with ragged-red fibers (MERRF) has been shown to be associated with a specific point mutation at the nucleotide 8344 in the tRNA(Lys) gene of. mitochondrial DNA (mtDNA). We screened 6 patients with clinically diagnosed MERRF and 1 patient with ocular myopathy for point mutations in the tRNA(Lys) gene, using single strand conformation polymorphism (SSCP) analysis, which can detect even a 1-basepair difference between 2 DNA sequences. Using SSCP and consequent DNA sequencing, we identified the known MERRF mutation in 4 out of 6 MERRF patients, as well as in 1 patient with a new clinical phenotype associated with this mutation: progressive external ophthalmoplegia, muscle weakness and a lipoma, but no myoclonus or epilepsy. Two of the patients with clinical MERRF had neither the MERRF-mutation nor any other mutations in the tRNA(Lys) gene. Using SSCP analysis, we also detected a new polymorphism in 1 patient. Thus, SSCP analysis can be applied to search effectively and rapidly for point mutations or polymorphisms in mitochondrial DNA.
引用
收藏
页码:222 / 226
页数:5
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