| Autor: |
Dimovski AJ; Department of Cell and Molecular Biology, Medical College of Georgia, Augusta., Oner C, Agarwal S, Gu YC, Gu LH, Kutlar F, Lanclos KD, Huisman TH |
| Jazyk: |
angličtina |
| Zdroj: |
Acta haematologica [Acta Haematol] 1991; Vol. 85 (2), pp. 79-87. |
| DOI: |
10.1159/000204862 |
| Abstrakt: |
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: |
MEDLINE |
| Externí odkaz: |
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