Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA.
نویسندگان
چکیده
Single deletions of mitochondrial DNA (mtDNA) were the first pathogenic mutations to be identified in human mtDNA. In a seminal paper, Holt et al reported the presence of single deletions of the mitochondrial genome in patients presenting with mitochondrial myopathies, and since then, the field has experienced enormous progress. To date, 97 different deletions have been reported in MITOMAP, the main international database for mtDNA related disorders (www.mitomap.org), and most of these deletions are associated with two clinical presentations: chronic progressive external ophthalmoplegia (CPEO) and Kearns-Sayre syndrome (KSS). Here, we report the molecular characterisation of a series of 18 patients in whom we have identified single deletions of mtDNA. These patients were, as expected, diagnosed with CPEO and KSS. Deletions were identified and measured by Southern blot analysis and were mapped by long polymerase chain reaction (PCR) to locate the deletion breakpoint. We report nine novel deletions and defined their characteristics in terms of sequence of the tandem repeat, presence of palindrome sequences, length of the deleted molecule, and heteroplasmy level in muscle.
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عنوان ژورنال:
- Journal of medical genetics
دوره 40 7 شماره
صفحات -
تاریخ انتشار 2003