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Baoli Yang

2013

Globins

Articles 1 - 3 of 3

Full-Text Articles in Medicine and Health Sciences

Gene Modification Via "Plug And Socket" Gene Targeting., J. Lewis, Baoli Yang, P. Detloff, O. Smithies Jul 2013

Gene Modification Via "Plug And Socket" Gene Targeting., J. Lewis, Baoli Yang, P. Detloff, O. Smithies

Baoli Yang

No abstract provided.


A Common Human Beta Globin Splicing Mutation Modeled In Mice., J. Lewis, Baoli Yang, R. Kim, H. Sierakowska, R. Kole, O. Smithies, N. Maeda Jul 2013

A Common Human Beta Globin Splicing Mutation Modeled In Mice., J. Lewis, Baoli Yang, R. Kim, H. Sierakowska, R. Kole, O. Smithies, N. Maeda

Baoli Yang

The betaIVS-2-654 C-->T mutation accounts for approximately 20% of beta thalassemia mutations in southern China; it causes aberrant RNA splicing and leads to beta0 thalassemia. To provide an animal model for testing therapies for correcting splicing defects, we have used the "plug and socket" method of gene targeting in murine embryonic stem cells to replace the two (cis) murine adult beta globin genes with a single copy of the human betaIVS-2-654 gene. No homozygous mice survive postnatally. Heterozygous mice carrying this mutant gene produce reduced amounts of the mouse beta globin chains and no human beta globin, and have …


A Mouse Model For Beta 0-Thalassemia., Baoli Yang, S. Kirby, J. Lewis, P. Detloff, N. Maeda, O. Smithies Jul 2013

A Mouse Model For Beta 0-Thalassemia., Baoli Yang, S. Kirby, J. Lewis, P. Detloff, N. Maeda, O. Smithies

Baoli Yang

We have used a "plug and socket" targeting technique to generate a mouse model of beta 0-thalassemia in which both the b1 and b2 adult globin genes have been deleted. Mice homozygous for this deletion (Hbbth-3/Hbbth-3) die perinatally, similar to the most severe form of Cooley anemia in humans. Mice heterozygous for the deletion appear normal, but their hematologic indices show characteristics typical of severe thalassemia, including dramatically decreased hematocrit, hemoglobin, red blood cell counts, mean corpuscular volume, mean corpuscular hemoglobin, and mean corpuscular hemoglobin concentration, as well as dramatically increased reticulocyte counts, serum bilirubin concentrations, and red cell distribution …