Transmission of mitochondrial DNA heteroplasmy in normal pedigrees |
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Authors: | Christopher D Gocke Floyd A Benko P K Rogan |
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Institution: | (1) Department of Pathology, Pennsylvania State University College of Medicine, Hershey, PA 17033, USA, US;(2) Department of Human Genetics, Allegheny University of the Health Sciences, 320 East North Avenue, Pittsburgh, PA 15212, USA Tel.: +1-412-359-4988; Fax: +1-412-359-6488; e-mail: progan@pgh.auhs.edu, US |
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Abstract: | The presence of multiple mitochondrial genotypes (heteroplasmy) has been studied in normal individuals. Six multigenerational
normal families were screened for heteroplasmy by PCR of the mitochondrial control region and the cytochrome c oxidase intergenic
regions. Two individuals from different families exhibited multiple length polymorphisms in a homopolymeric tract at positions
16 184–16 193 and a grandmother in a third family was heteroplasmic for both cytosine and thymidine at position 15 945. Although
the 15 945 T variant comprised 28% of the grandmother’s mitochondrial DNA, this sequence was not present in any of her descendants.
Heteroplasmy was detected in 2.5% of the 96 mother-offspring pairs, consistent with the possibility that it may not be rare.
Received: 18 August 1997 / Accepted: 10 November 1997 |
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