Certain Mutations Observed in the 5´ Sequences of the Gγ- and Aγ-Globin Genes of βs Chromosomes Are Specific for Chromosomes with Major Haplotypes
| Autor: | Kenneth D. Lanclos, Y.-C. Gu, Ferdane Kutlar, A. J. Dimovski, S. Agarwal, C. Öner, Titus H.J. Huisman, L.-H. Gu |
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| Rok vydání: | 1991 |
| Předmět: | |
| Zdroj: | Acta Haematologica. 85:79-87 |
| ISSN: | 1421-9662 0001-5792 |
| Popis: | In this paper we describe the distribution of some specific sequence differences in the 5' flanking regions of the A gamma- and G gamma-globin genes from 100 Black adult and 57 newborn SS patients from the southeastern United States, from 76 individuals with AS, S-beta-thal, SC, AC, or A-beta-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 (A gamma), while 132 were also positive for the C----G mutation at -369 (G gamma). 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 G gamma was present on all 41 chromosomes with haplotype 3, and on two chromosomes with a related atypical haplotype. Normal and beta-thal chromosomes with each of these substitutions had the same 5' subhaplotype as beta S haplotypes 19 or 20, respectively. The close relationship between the occurrence of specific mutations and the haplotype of beta S chromosomes makes the determination of these haplotypes with specific oligonucleotide probes attractive with respect to time and expense. |
| Databáze: | OpenAIRE |
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