Certain Mutations Observed in the 5´ Sequences of the Gγ- and Aγ-Globin Genes of βs Chromosomes Are Specific for Chromosomes with Major Haplotypes

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Abstract
In this paper we describe the distribution of some specific sequence differences in the 5’ flanking regions of the Aγ- and Gγ-globin genes from 100 Black adult and 57 newborn SS patients from the southeastern United States, from 76 individuals with AS, S-β-thal, SC, AC, or A-β-thal, and from 31 normal individuals. Haplotypes for all adult individuals have been previously determined using various restriction endonucleases. The DNA samples were amplified, dot blotted, and hybridized with 32P-labeled specific oligonucleotide probes. All 134 chromosomes with haplotype 19 were positive for the G → T substitution at position -657 (Aγ), while 132 were also positive for the C→G mutation at -369 (Gγ). The three specific changes for the chromosome with haplotype 20 were found on all 54 chromosomes with this haplotype. The C→T mutation at -158 5’ to Gγ was present on all 41 chromosomes with haplotype 3, and on two chromosomes with a related atypical haplotype. Normal and β-thal chromosomes with each of these substitutions had the same 5’ subhaplotype as βs haplotypes 19 or 20, respectively. The close relationship between the occurrence of specific mutations and the haplotype of βs chromosomes makes the determination of these haplotypes with specific oligonucleotide probes attractive with respect to time and expense.

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