| Autor: |
Harteveld, Cornelis L., Muglia, Maria, Passarino, Giuseppe, Kielman, Menno F., Bernini, Luigi F. |
| Předmět: |
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| Zdroj: |
British Journal of Haematology; Dec2002, Vol. 119 Issue 3, p848-854, 7p |
| Abstrakt: |
Summary. The highly conserved 350-bp major regulatory element HS-40 (or αMRE) upstream of the human α-globin gene cluster is involved in the regulation of α-globin gene expression. The study of αMRE differences between human populations and the evolution of αMRE sequences in mammals may lead to a better understanding of the function and importance of this element in the regulation of expression of the downstream α-cluster. Denaturing gradient gel electrophoresis was used to determine the sequence heterogeneity of the αMRE region in 276 unrelated individuals, representing seven different populations. Furthermore, we analysed the α major regulatory elements of chimpanzee, orang-utan and rhesus monkeys and compared them with the equivalent human and murine sequences. Six different αMRE haplotypes (labelled A to F) were found in humans. Haplotype frequencies between the seven populations showed a gradual shift to a higher haplotype A distribution from west to east, being the highest in Indonesians. The African sample shows the largest divergence in haplotypes. Five out of six different haplotypes were present, three of which were exclusively found in Africans. The high prevalence of the haplotype A in humans, together with the conservation of this haplotype in apes, suggests that it is the ancestral one. The αMRE fragment appears to be a highly polymorphic marker, which could be used in combination with the regular markers in the α-cluster to extend the haplotype and to follow segregation of α-thalassaemia genes in population studies more accurately. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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