1. Evidence of recent natural selection on the Southeast Asian deletion (--SEA) causing α-thalassemia in South China.
- Author
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Qin-Wei Qiu, Dong-Dong Wu, Li-Hua Yu, Ti-Zhen Yan, Wen Zhang, Zhe-Tao Li, Yan-Hui Liu, Ya-Ping Zhang, and Xiang-Min Xu
- Subjects
NATURAL selection ,GENETIC carriers ,LINKAGE disequilibrium ,GENETIC mutation - 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]
- Published
- 2013
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