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Title: 3? haplotypes of the ?-globin gene in ? s- chromosomes of Mexican individuals
Author: Magana, M.T.
Perea, F.J.
Ongay, Z.
Ibarra, B.
Issue Date: 2005
Abstract: The ?-globin gene cluster has shown high polymorphic diversity organized in 5? and 3? haplotypes (Hps). ? S- Chromosomes are in linkage disequilibrium with the 5? Hps Bantu, Benin, Senegal, Cameroon, and Arab-Indian. In Mexican mestizos with African west coast origins, we observed the following 5? Hps in ? S- chromosomes: Bantu, 78.8%; Benin, 18.2%; and atypical Hp 9, 3.0%. With the purpose of establishing the 3? Hps, we analyzed 35 polymorphic sites-6 by RFLP analysis and 29 by DNA sequencing-in 33 unrelated ? S- chromosomes. The polymorphic sites were structured according to Harding et al. [R.M. Harding, S.M. Fullerton, R.C. Griffiths, J.B. Clegg, Archaic African and Asian lineages in the genetic ancestry of modern humans, Am. J. Hum. Genet. 60 (1997) 772-789] and Lapoum�roulie et al. [C. Lapoum�roulie, O. Dunda, R. Ducrocq, G. Trabuchet, M. Mony-Lob�, J.M. Bodo, P. Carnevale, D. Labie, J. Elion, R. Krishnamoorthy, A novel sickle cell mutation of yet another origin in Africa: the Cameroon type, Hum. Genet. 89 (1992) 333-337]. All Bantu ? S-chromosomes showed the 12A1 3? Hp with (AT) 6T 9 repeats (84.9%), a novel 3? Hp. The Benin Hp was 2B2, with (AT) 8T 4 (12.1%), and the atypical Hp 9 4B1, (AT) 8T 5 (3.0%). Because of the high linkage disequilibrium observed for the Bantu and 12A1 Hps, we expect that, if there is a single origin of the Bantu ? S mutation, all must show the 12A1 polymorphic DNA sequence in the 3? Hp. A correlation between the 5? and 3? Hps could be observed with the other ? S mutations. The atypical Hp 9 was also atypical at the 3? Hp, with the same repeats as observed with the Cameroon ? S mutation; however, it differed in one position from the typical Lapoum�roulie Cameroon Hp, indicating that these ? S-chromosomes arose by different genetic mechanisms or by a novel ? S mutation. We stress the importance of the study of DNA polymorphisms at 3? Hp to allow understanding of the genetic diversity of ? S-chromosomes, as well as their implications in ? S gene expression and the possible effects on the clinical phenotype. � 2004 Elsevier Inc. All rights reserved.
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