Fluorescence in situ hybridization analysis of peripheral blood cells in Pearson marrow-pancreas syndrome

I Yanagihara; K Inui; K Yanagihara; Y D Park; J Tanaka; K Ozono; S Okada; H Kurahashi

doi:10.1067/mpd.2001.116296

Fluorescence in situ hybridization analysis of peripheral blood cells in Pearson marrow-pancreas syndrome

J Pediatr. 2001 Sep;139(3):452-5. doi: 10.1067/mpd.2001.116296.

Authors

I Yanagihara¹, K Inui, K Yanagihara, Y D Park, J Tanaka, K Ozono, S Okada, H Kurahashi

Affiliation

¹ Department of Environmental Medicine, Research Institute, Osaka Medical Center for Maternal and Child Health, Izumi City, Osaka, Japan.

PMID: 11562629
DOI: 10.1067/mpd.2001.116296

Abstract

We used a dual-color fluorescence in situ hybridization technique to estimate deleted mitochondrial DNA at a single-cell level and determine any correlation with the disease progression in lymphocytes from patients with Pearson marrow-pancreas syndrome. The method demonstrated a shift in heteroplasmy, paralleling the hematologic improvement.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Anemia, Sideroblastic / blood
Anemia, Sideroblastic / genetics*
DNA, Mitochondrial / blood*
Female
Hematopoietic Stem Cells / pathology
Humans
In Situ Hybridization, Fluorescence / methods*
Infant
Lymphocytes
Pancreatic Diseases / blood
Pancreatic Diseases / genetics*
Syndrome

Substances

DNA, Mitochondrial