A PCR test for progressive external ophthalmoplegia and Kearns-Sayre syndrome on DNA from blood samples

Progressive external ophthalmoplegia (PEO) and Kearns-Sayre syndrome (KSS) are caused by deletions in mitochondrial DNA. Identification of these deletions is important for diagnosis, prognosis and genetic counselling. As yet, the most frequently used test is Southern blot analysis of DNA isolated fr...

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Bibliographic Details
Published in:Journal of the neurological sciences 1997-07, Vol.149 (1), p.37-40
Main Authors: De Coo, I.F.M, Gussinklo, T, Arts, P.J.W, Van Oost, B.A, Smeets, H.J.M
Format: Article
Language:English
Subjects:
Biological and medical sciences
Biopsy
Blotting, Southern
Deletion
Diagnosis, Differential
Diseases of striated muscles. Neuromuscular diseases
DNA - blood
DNA, Mitochondrial - genetics
Female
Humans
Kearns-Sayre Syndrome - diagnosis
Kearns-Sayre Syndrome - genetics
Kearns-Sayre Syndrome - pathology
KSS
Long-distance PCR
Male
Medical sciences
Mitochondrial analysis
Muscle, Skeletal - pathology
Neurology
Ophthalmoplegia, Chronic Progressive External - diagnosis
Ophthalmoplegia, Chronic Progressive External - genetics
Ophthalmoplegia, Chronic Progressive External - pathology
Pearson syndrome
PEO
Polymerase Chain Reaction - methods
Sensitivity and Specificity
Sequence Deletion
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Description
Summary:Progressive external ophthalmoplegia (PEO) and Kearns-Sayre syndrome (KSS) are caused by deletions in mitochondrial DNA. Identification of these deletions is important for diagnosis, prognosis and genetic counselling. As yet, the most frequently used test is Southern blot analysis of DNA isolated from a muscle biopsy. Here, we describe a sensitive PCR-based test for the identification of these deletions in DNA isolated from blood. The main advantage is that in the majority of cases a muscle biopsy is no longer necessary for the molecular diagnosis of PEO and KSS.
ISSN:0022-510X
1878-5883
DOI:10.1016/S0022-510X(97)05366-5