Genetic heterogeneity of the β-globin gene in various geographic populations of Yunnan in southwestern China

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Abstract

Abstract Objectives The aim of this study was to investigate the geographic distribution of β-globin gene muta- tions in different ethnic groups in Yunnan province. Methods From 2004 to 2014, 1,441 subjects with hemoglobin disorders, identified by PCR-reverse dot blot and DNA sequencing, were studied according to ethnicity and geographic origin. Haplotypes were examined among 41 unrelated thalassemia chromosomes. Results Eighteen β-thalassemia mutations and seven hemoglobin variants were identified for 1,616 alleles in 22 different ethnic groups from all 16 prefecture-level divisions of Yunnan. The prevalence of β-thalassemia was heterogeneous and regionally specific. CD 41-42 (-TCTT) was themost prevalent mutation in the populations of northeastern Yunnan. CD 17 (A>T) was themost commonmutation in the populations of southeastern Yunnan, especially for the Zhuang minority, whereas Hb E (CD 26,G>A) was the most prevalent mutation in popu- lations of southwestern Yunnan, especially for the Dai minority. Among the seven types of haplotypes identified, CD 17 (A>T) wasmainly linked to haplotype VII (+ -----+)and IVS- II-654 (C>T) was only linked to haplotype I (+ ----++). Conclusion Our data underline the heterogeneity of β-globin gene mutations in Yunnan. This distribu- tion of β-globin mutations in the geographic regions and ethnic populations provided a detailed ethnic basis and evolutionary view of humans in southern China, which will be beneficial for genetic counseling and prevention strategies.

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Zhang, J., He, J., Zeng, X. H., Ge, S. J., Huang, Y., Su, J., … Zhu, B. S. (2015). Genetic heterogeneity of the β-globin gene in various geographic populations of Yunnan in southwestern China. PLoS ONE, 10(4). https://doi.org/10.1371/journal.pone.0122956

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