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Evidence of recent natural selection on the Southeast Asian deletion (--SEA) causing α-thalassemia in South China.
- Source :
-
BMC Evolutionary Biology . 2013, Vol. 13 Issue 1, p1-10. 10p. 3 Diagrams, 2 Charts, 3 Graphs. - Publication Year :
- 2013
-
Abstract
- Background: The Southeast Asian deletion (--SEA) is the most commonly observed mutation among diverse α-thalassemia alleles in Southeast Asia and South China. It is generally argued that mutation --SEA, like other variants causing hemoglobin disorders, is associated with protection against malaria that is endemic in these regions. However, little evidence has been provided to support this claim. Results: We first examined the genetic imprint of recent positive selection on the --SEA allele and flanking sequences in the human α-globin cluster, covering a genomic region spanning ∼410 kb, by genotyping 28 SNPs in a Chinese population consisting of 76 --SEA heterozygotes and 138 normal individuals. The pattern of linkage disequilibrium (LD) and the long-range haplotype test revealed a signature of positive selection. The network of inferred haplotypes suggested a single origin of the --SEA allele. Conclusions: Thus, our data support the hypothesis that the --SEA allele has been subjected to recent balancing selection, triggered by malaria. [ABSTRACT FROM AUTHOR]
- Subjects :
- *NATURAL selection
*GENETIC carriers
*LINKAGE disequilibrium
*GENETIC mutation
Subjects
Details
- Language :
- English
- ISSN :
- 14712148
- Volume :
- 13
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- BMC Evolutionary Biology
- Publication Type :
- Academic Journal
- Accession number :
- 87454870
- Full Text :
- https://doi.org/10.1186/1471-2148-13-63