Detection of mitochondrial DNA deletions in blood using the polymerase chain reaction: non‐invasive diagnosis of mitochondrial myopathy
作者:
J. Poulton,
M. E. Deadman,
D. M. Turnbull,
B. Lake,
R. M. Gardiner,
期刊:
Clinical Genetics
(WILEY Available online 1991)
卷期:
Volume 39,
issue 1
页码: 33-38
ISSN:0009-9163
年代: 1991
DOI:10.1111/j.1399-0004.1991.tb02982.x
出版商: Blackwell Publishing Ltd
关键词: mitochondrial deletions;mitochondrial myopathy;non‐invasive diagnosis;polymerase chain reactions
数据来源: WILEY
摘要:
Southern hybridisation demonstrates deleted mitochondrial DNAs (mtDNAs) in muscle but not in blood in a subgroup of patients with mitochondrial myopathy. The polymerase chain reaction (PCR) was used to search for low levels of rearranged mitochondrial DNAs in blood in 24 patients with mitochondrial myopathy, and 15 asymptomatic relatives, all of whom have no detectable abnormality on restriction enzyme analysis of blood mitochondrial DNA. In eight patients and two of their relatives, PCR products were obtained consistent with deletions of mitochondrial DNA. The presence or absence of a deletion was correctly predicted in 10 out of 11 patients from whom information was available from muscle DNA. No false positives were obtained in 43 controls. PCR analysis of blood may be applicable as a non‐invasive screening test of affected individuals and in carrier detectio
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