PMID: 7526681Dec 1, 1994Paper

A four base pair deletion 5' to the A gamma T gene is associated not only with decreased expression of the A gamma T-globin gene, but also of the G gamma-globin gene in cis

American Journal of Hematology
M B ColemanW P Winter

Abstract

A four base pair deletion 5' to A gamma T-globin gene at positions -222 to -225 has been reported to reduce the expression of this gene. To evaluate the prevalence and effect of this deletion, PCR-based methods were employed. The deletion had a gene frequency of 0.06 in a sample of African-American individuals with sickle cell trait, 0.18 in adult African-Americans with normal Hb AA, and 0.36 in caucasians. Seventy cord blood samples from African-American newborns with Hb AA were evaluated by both HPLC and PCR. The frequency of the A gamma T allele was 0.13. The A gamma T-globin chain was always present in a lower proportion than the A gamma I allele (70% of A gamma I), but the percentage of A gamma-globin was the same whether or not A gamma T was present. The total percentage of Hb F, however, was significantly lower in the group with the A gamma T allele (77.1% vs. 87.4%, P < 0.01). These results indicate that the four base pair deletion is not only associated with reduced expression of the A gamma T allele, but also of the G gamma allele in cis, further suggesting a possible role of this region in the modulation of the expression of the linked gamma-globin genes.

References

Feb 1, 1979·The Journal of Clinical Investigation·W A SchroederH Lam
Sep 1, 1976·Nucleic Acids Research·N Blin, D W Stafford
Jan 1, 1976·British Journal of Haematology·B ColomboL Terrenato
Dec 25, 1990·Nucleic Acids Research·M PuruckerA W Nienhuis
Mar 1, 1984·British Journal of Haematology·L FelicettiB Colombo

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Citations

Dec 31, 2008·Molecular and Cellular Biology·Hugues Beauchemin, Marie Trudel
Jun 29, 2000·Baillière's Clinical Haematology·M H Steinberg
Apr 18, 2015·PloS One·Francisco RothhammerManuela Dittmar
Jul 6, 2010·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·C G BarbosaM S Goncalves
Apr 2, 2008·IUBMB Life·Laura Manca, Bruno Masala
Oct 18, 2001·Seminars in Hematology·M H Steinberg, G P Rodgers

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