Demonstration of Non-Functional β -globin mRNA in Homozygous βo-thalassemia

In two Chinese patients with homozygous βo-thalassemia, messenger RNAs from peripheral blood reticulocytes and the bone marrow failed to direct β -chain synthesis in vivo and in vitro in a cell-free system. Molecular hybridization showed that the β cDNA annealed to the RNAs at almost the same rate a...

Full description

Saved in:
Bibliographic Details
Published in:Proceedings of the National Academy of Sciences - PNAS 1975-12, Vol.72 (12), p.5140-5144
Main Authors: Kan, Yuet Wai, Holland, Janice P., Dozy, Andree M., Varmus, Harold E.
Format: Article
Language:English
Subjects:
Annealing
Blood
Bone marrow
Cell free system
Complementary DNA
Edema
Hybridity
Messenger RNA
Reticulocytes
RNA
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:In two Chinese patients with homozygous βo-thalassemia, messenger RNAs from peripheral blood reticulocytes and the bone marrow failed to direct β -chain synthesis in vivo and in vitro in a cell-free system. Molecular hybridization showed that the β cDNA annealed to the RNAs at almost the same rate as the α and γ cDNA. The β cDNA· RNA hybrid formed efficiently and was thermally stable, whereas hybrids between γ and β sequences formed slowly and denatured at a significantly lower temperature. Thus, we conclude that the β cDNA was annealing to β -globin sequences in these two patients, and that nonfunctional β -globin mRNA was present. Similar results were obtained in the reticulocyte RNA from an Italian patient with homozygous βo-thalassemia.
ISSN:0027-8424