Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene

被引：34

作者：

Akanuma, J

Muraki, K

Komaki, H

Nonaka, I

Goto, Y

机构：

[1] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Kodaira, Tokyo 1878502, Japan

[2] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Ultrastruct Res, Kodaira, Tokyo 1878502, Japan

来源：

JOURNAL OF HUMAN GENETICS | 2000年 / 45卷 / 06期

关键词：

mitochondrial DNA; pseudogene; long PCR; point mutations; Rho-0; cell;

D O I：

10.1007/s100380070004

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Technical advancements in molecular genetics have shown various mitochondrial DNA (mtDNA) abnormalities in patients with mitochondrial myopathies. Recently, it has been revealed that, in these patients, the nuclear DNA carries sequences similar to those of the mtDNA (nuclear pseudogene) and it has several point mutations previously reported to be pathogenic. We verified the existence of the T3250C and T3291C mutations, which we have found in patients with mitochondrial myopathy, in the authentic mitochondrial genome, A long polymerase chain reaction provides a powerful tool for avoiding nuclear pseudogene amplification and for ruling out ambiguity in the detection of the mutation for diagnosis.

引用

页码：337 / 341

页数：5

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