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• W1996341566 abstract "There are at least three major African haplotype backgrounds on which the beta s mutation arises. Sequence changes in the immediate 5' flanking area of the gamma-globin genes may account for differences in fetal hemoglobin expression among the three haplotypes. We determined the sequence from -350 to 10 bp 5' of the G gamma and A gamma fetal globin genes from one beta s-containing chromosome on each of the three major haplotype backgrounds. The Senegal chromosome had a T at -158 5' to the G gamma gene; the Benin (BEN) chromosome had an A to G change at -309 5' to the G gamma gene; and the Central African Republic (CAR) chromosome had a C to T change at -271 5' to the A gamma gene. Genomic DNA from patients with sickle cell disease was analyzed using the polymerase chain reaction and radiolabeled allele-specific oligonucleotide probes. The -309 G variant 5' to the G gamma gene is associated with BEN chromosomes, and the -271 T variant 5' to A gamma with CAR. The -309 change was also found on beta A-containing chromosomes, while the -271 change was not. The -309 change may have predated the beta s mutation on the BEN chromosome." @default.
• W1996341566 created "2016-06-24" @default.
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• W1996341566 date "1990-02-01" @default.
• W1996341566 modified "2023-10-14" @default.
• W1996341566 title "Analysis of 5' flanking regions of the gamma globin genes from major African haplotype backgrounds associated with sickle cell disease." @default.
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• W1996341566 doi "https://doi.org/10.1172/jci114447" @default.
• W1996341566 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/296433" @default.
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