Abstract
The genetic diversity and relationships among ethnic minority populations of southwest China were investigated using seven polymorphic restriction enzyme sites in the β-globin gene cluster. The haplotypes of 1392 chromosomes from ten ethnic populations living in southwest China were determined. Linkage equilibrium and recombination hotspot were found between the 5′ sites and 3′ sites of the β-globin gene cluster. 5′ haplotypes 2 (+−−−), 6 (−++−+), 9 (−++++) and 3′ haplotype FW3 (−+) were the predominant haplotypes. Notably, haplotype 9 frequency was significantly high in the southwest populations, indicating their difference with other Chinese. The interpopulation differentiation of southwest Chinese minority populations is less than those in populations of northern China and other continents. Phylogenetic analysis shows that populations sharing same ethnic origin or language clustered to each other, indicating current β-globin cluster diversity in the Chinese populations reflects their ethnic origin and linguistic affiliations to a great extent. This study characterizes β-globin gene cluster haplotypes in southwest Chinese minorities for the first time, and reveals the genetic variability and affinity of these populations using β-globin cluster haplotype frequencies. The results suggest that ethnic origin plays an important role in shaping variations of the β-globin gene cluster in the southwestern ethnic populations of China.
Highlights
Chromosomes HincII 5′ ε HindIII G γ HindIII Aγ HincII 5′ Ψβ HincII 3′ Ψβ AvaII β Hinf I 3′ β
Many studies using the β-globin gene cluster haplotype have been carried out in a variety of populations in Africa, Europe, America and Asia, only a few northern Chinese ethnic populations have been analyzed[13,14]. In spite of their important roles in origin, migration and evolutionary history of Chinese ethnic populations, a large number of southwestern Chinese minority populations have not been investigated for β-globin gene cluster characteristics and haplotype variation
We examine for the first time the allelic and haplotypic characteristics of the β-globin gene cluster in 10 ethnic minority populations, mainly from southwestern China
Summary
These haplotypes, including their links to heamoglobinopathies, such as β-thalassemia and sickle cell anemia. We examine for the first time the allelic and haplotypic characteristics of the β-globin gene cluster in 10 ethnic minority populations, mainly from southwestern China. We found different Thai subpopulations had the most frequent FW2, while Tibetan and northern Chinese Han subpopulations living in different regions had the highest FW3 haplotype frequencies This suggests 3′ haplotype distribution pattern of these Chinese populations accords with their ethnic origin. Using pairwise Fst (F-statistics) and exact test of non-differentiation based on 5′ haplotype frequencies, the most significant differences and greatest genetic heterogeneity were observed in inter-ethnic comparisons of the Chinese populations (Supplementary Tables 1 and 2). Amerindian from the American continent is clustered close to Chinese populations (Fig. 2b)
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
