1. Evidence of recent natural selection on the Southeast Asian deletion (--(SEA)) causing α-thalassemia in South China.
- Author
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Qiu QW, Wu DD, Yu LH, Yan TZ, Zhang W, Li ZT, Liu YH, Zhang YP, and Xu XM
- Subjects
- Gene Deletion, Haplotypes, High-Throughput Nucleotide Sequencing, Humans, Polymorphism, Single Nucleotide, Recombination, Genetic, Asian People genetics, Chromosomes, Human, Pair 16, Hemoglobins genetics, Malaria genetics, Selection, Genetic, alpha-Thalassemia genetics
- 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.
- Published
- 2013
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