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Nucleic Acids Research, 1988, Vol. 16, No. 22 10635-10642
© 1988

MOLECULAR BIOLOGY

Distal CCAAT box deletion in the A{gamma} globin gene of two black adolescents with elevated fetal A{gamma} globin

J. G. Gilman*, N. Mishima, X. J. Wen, T. A. Stoming, J. Lobel1 and T. H. J. Huisman

Department of Cell and Molecular Biology, Medical College of Georgia Augusta, GA 30912-2100 1Department of Pediatrics, Geisinger Medical Center Danville, PA 17822, USA

*To whom correspondence should be addressed

Received July 25, 1988. Revised October 18, 1988. Accepted October 18, 1988.

Point mutations in G{gamma} and A{gamma} globin gene promoters areassociated with increased production of G{gamma} and A{gamma} globin, respectively. To determine whether an upstream promoter mutation could account for elevated A{gamma} in a Black adolescent with A{gamma}-ß+-HPFH and sickle cell trait, we cloned the 13 kb Bglll fragment containing both {gamma} genes into phage lambda vector EMBL3. For one clone, the A{gamma} upstream promoter showed no hybridization to a 19 bp oligonucleotide whose sequence centered at –117. AY promoter sequence data for this mutant clone revealed a 13 bp deletion which eliminated the AY distal CCAAT box. Amplified AY genomic DNA of this and a similar case showed hybridization to both deletion-mutant and normal oligonucleotide probes. We propose that this 13 bp deletion removes part of the binding site for a repressor protein which is abundant in adult erythroid cells.


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