Isolation of hybrid cell clones that contain deletion and non-deletion
defects of alpha-thalassemia in man
A Deisseroth, U Bode, R Lebo, A Dozy and YW Kan
We have succeeded in isolating hybrid mouse erythroleukemia cell clones
from a patient with hemoglobin H disease, which exhibit either deletion or
nondeletion mutations of the human alpha-globin genes. Analysis of one of
these hybrid clones that had retained a human chromosome 16 from the
patient's cells showed that both human alpha-globin had been deleted.
Several clones of another hybrid cell had retained a human chromsome 16
from the patient's cells, which contained both human alpha- globin genes on
an EcoRI fragment of 23 kilobases (kb). These latter hybrid clones showed
the presence of human alpha-globin chains at detectable but low levels.
These studies show that there are two different types of human chromosome
16 in this patient and that the nondeletion mutation of human alpha-globin
genes leading to hemoglobin H diseases in this patient acts in cis to the
two alpha-globin genes remaining in his cells. The close correlation
between the pattern of human alpha-globin gene expression in the patient
and in the hybrid cells suggests that this method of transfer of human
globin genes to rodent cells will be a useful one for study of mutations
affecting the expression of differentiated genes that lead to disease in
man.
Volume 55,
Issue 6,
pp. 992-996,
06/01/1980
Copyright © 1980 by The American Society of Hematology
