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DNA sequence variation associated with elevated fetal G gamma globin
production
JG Gilman and TH Huisman
The percentage of G gamma chains in the Hb F of SS patients and beta-
thalassemia heterozygotes is generally 40%, but some have 60% to 70% G
gamma. To test the hypothesis that DNA sequence variation 158 base pairs 5'
of the G gamma gene is associated with this variation in G gamma values,
DNA was analyzed using the restriction endonuclease Xmn I (gamma IVS-II
probe). Xmn I recognizes the sequence from -157 to -166 only if T is at
position -158. Individuals from five families had T at - 158 for G gamma
genes in both chromosomes, and the mean G gamma value was 69.7% +/- 4.6%
(SD). For 13 families, individuals with T at -158 for the G gamma gene of
one chromosome had a G gamma value of 60.6% +/- 5.7%. With one exception,
lack of T at -158 was associated with low G gamma values (39.6% +/- 4.0%).
In low Hb F G gamma-beta+-HPFH, the Xmn I site was seen 5' to both G gamma
and A gamma genes, which suggests that T at -158 is associated with
elevated Hb F; Pst I digestion showed that the A gamma gene T producer G
gamma globin, which accounts for high levels of G gamma (87-88%).
Calculations show that T at -158 is associated with a three- to 11-fold
increase in production per G gamma gene, which is an order of magnitude
less than that associated with the previously identified -202 C----G
substitution of high Hb F G gamma- beta+-HPFH.
Volume 66,
Issue 4,
pp. 783-787,
10/01/1985
Copyright © 1985 by The American Society of Hematology
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