Deletion in Blood Mitochondrial DNA in Kearns‐Sayre Syndrome
作者:
NATHAN FISCHEL-GHODSIAN,
M. BOHLMAN,
TONI PREZANT,
JOHN GRAHAM,
STEPHEN CEDERBAUM,
MATTHEW EDWARDS,
期刊:
Pediatric Research
(OVID Available online 1992)
卷期:
Volume 31,
issue 6
页码: 557-560
ISSN:0031-3998
年代: 1992
出版商: OVID
数据来源: OVID
摘要:
ABSTRACTSMitochondrial DNA deletions have been described in the Kearns-Sayre syndrome (KSS) and the Pearson's marrow-pancreas syndrome. In some cases, the same 4 977-bp deletion has been identified in these two very different diseases. Therefore, it is not currently possible to predict the clinical phenotype from the size or location of the deletion. Instead, differential tissue distribution of the deletion has been implicated as one possible determinant of phenotype. In particular, in KSS the deletions have not been detected by Southern blotting in the blood, whereas in Pearson's syndrome they are easily detectable. We describe here an 11-y-old boy with clinically characteristic KSS and a 7.4-kb mitochondrial DNA deletion between aucleotides 7 194 and 14 595. Southern blotting reveals that 75% of the mitochondrial DNA molecules from his peripheral blood have this deletion. This case blurs further the molecular distinction between the KSS and Pearson's marrow-pancreas syndrome, questioning whether tissue distribution is a sufficient explanation for the very different pheaotypes of these disorders. (Pediatr Res31:557–560, 1992)
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