ID 110475
Title Transcription
ピルビンサン ダッスイソ コウソ フクゴウタイ イジョウショウ ジョジ カンジャ ノ イデンシ シンダン システム ノ カクリツ
Title Alternative
The development of DNA diagnostic system for female patients with pyruvate dehydrogenase α subunit deficiency
Author
Shinahara, Kumi Department of Pediatrics, The University of Tokushima School of Medicine
Ohigashi, Izumi Department of Pediatrics, The University of Tokushima School of Medicine Tokushima University Educator and Researcher Directory KAKEN Search Researchers
Ito, Michinori Department of Pediatrics, The University of Tokushima School of Medicine
Matsuda, Junko Department of Pediatrics, The University of Tokushima School of Medicine
Naito, Etsuo Department of Pediatrics, The University of Tokushima School of Medicine
Yokota, Ichiro Department of Pediatrics, The University of Tokushima School of Medicine
Ogawa, Yukiko Department of Pediatrics, The University of Tokushima School of Medicine
Kuroda, Yasuhiro Department of Pediatrics, The University of Tokushima School of Medicine Tokushima University Educator and Researcher Directory
Keywords
Pyruvate dehydrogenase (PDH) complex
PDH E1α subunit
X chromosome inactivation
DNA diagnosis
Content Type
Journal Article
Description
Pyruvate dehydrogenase (PDH) complex deficiency is one of the important causes of congenital lactic acidemia and mostly due to defect in the α subunit of PDH (E1α), of which gene is located on the X chromosome. The diagnosis of the PDH E1α deficiency is usually established by the measurement of the PDH complex activity in cultured cells.
However, some female patients, who are heterozygous for the mutant allele, cannot be diagnosed only by the assay of PDH complex activity, because of the skewed X-chromosome inactivation in cultured cells. Then, we established DNA diagnostic system for PDH E1α deficiency using X inactivation assay, no RI PCR-SSCP, and direct sequencing. With this DNA diagnostic system we could diagnose 4 female patients as PDH E1α deficiency from 14 female patients who were suspected PDH complex deficiency from the clinical features and concentrations of lactate and pyruvate in the blood but showed normal PDH complex activity in their cultured cells. These results indicate that this DNA diagnostic system for PDH E1 αdeficiency is very useful.
Journal Title
四国医学雑誌
ISSN
00373699
NCID
AN00102041
Publisher
徳島医学会
Volume
56
Issue
6
Start Page
244
End Page
250
Sort Key
244
Published Date
2000-12-25
FullText File
language
jpn
TextVersion
Publisher
departments
Institute of Advanced Medical Sciences
Medical Sciences