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Article

The development of novel quantification assay for mitochondrial DNA heteroplasmy aimed at preimplantation genetic diagnosis of Leigh encephalopathy.

Journal of assisted reproduction and genetics - 1 Jun 2007

Tajima Hiroto, Sueoka Kou, Moon Sung Yung, Nakabayashi Akira, Sakurai Tomoyoshi, Murakoshi Yukitaka, Watanabe Hiroyoshi, Iwata Soukichi, Hashiba Tsuyoshi, Kato Shingo, Goto Yu-Ichi, Yoshimura Yasunori

Abstract excerpt

PURPOSE: To perform preimplantation genetic diagnosis (PGD) of Leigh encephalopathy, we developed a rapid and reliable quantification assay for the percentage of T8993G mtDNA mutation and analyzed various specimens. METHODS: We prepared the standard curve by measuring serial proportion of 8993T/G cloned plasmid DNA using real-time PCR, and measured (1) mutant DNA (known proportions by PCR-RFLP), (2) single...

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Identifiers

PMID: 17342424
DOI: 10.1007/s10815-007-9114-0
PMCID: PMC3454964

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PGD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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