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.
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