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The detection of mitochondrial DNA mutations using single stranded conformation polymorphism (SSCP) analysis and heteroduplex analysis.

作者信息

Thomas A W, Morgan R, Sweeney M, Rees A, Alcolado J

机构信息

Department of Medicine, University of Wales College of Medicine, Health Park, Cardiff, UK.

出版信息

Hum Genet. 1994 Dec;94(6):621-3. doi: 10.1007/BF00206954.

DOI:10.1007/BF00206954
PMID:7989037
Abstract

A number of mitochondrial (mt) point mutations have been associated with inherited disorders. These pathogenic mutations are usually heteroplasmic. Here we describe the identification of three heteroplasmic mtDNA point mutations using the techniques of single stranded conformation polymorphism (SSCP) and heteroduplex analysis.

摘要

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本文引用的文献

1
Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene.与年轻成年人猝死相关的线粒体肌病及线粒体DNA亮氨酸转运RNA（UUR）基因的新突变。
Q J Med. 1993 Nov;86(11):709-13.
2
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3
Mitochondrial gene defects in patients with NIDDM.非胰岛素依赖型糖尿病患者的线粒体基因缺陷
2型（非胰岛素依赖型）糖尿病候选线粒体tRNA基因的分子扫描
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Detection of mitochondrial DNA mutations in patients with diabetes mellitus.
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Sequence and organization of the human mitochondrial genome.人类线粒体基因组的序列与组织
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A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.
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Detection of mutations in insulin-receptor gene in NIDDM patients by analysis of single-stranded conformation polymorphisms.通过单链构象多态性分析检测非胰岛素依赖型糖尿病患者胰岛素受体基因的突变。
Diabetes. 1991 Jun;40(6):777-82. doi: 10.2337/diab.40.6.777.
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Genomics. 1992 Feb;12(2):301-6. doi: 10.1016/0888-7543(92)90377-5.
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J Inherit Metab Dis. 1992;15(4):472-9. doi: 10.1007/BF01799605.
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Diseases of the mitochondrial DNA.
Annu Rev Biochem. 1992;61:1175-212. doi: 10.1146/annurev.bi.61.070192.005523.
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Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA.
Lancet. 1992 Dec 5;340(8832):1376-9. doi: 10.1016/0140-6736(92)92560-3.