ArticlePloS one2015
Genetic heterogeneity of the β-globin gene in various geographic populations of Yunnan in southwestern China.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 28 citations in OpenAlex.
- Prevalence, mutation distribution, and economic burden of thalassemia in China: a systematic review and regional analysis.Archives of public health = Archives belges de sante publique · 2025Article
- Population genomics advances in frontier ethnic minorities in China.Science China. Life sciences · 2025Review
- Article
- Genetic evidence of tri-genealogy hypothesis on the origin of ethnic minorities in Yunnan.BMC biology · 2022Article
- Five novel globin gene mutations identified in five Chinese families by next-generation sequencing.Molecular genetics & genomic medicine · 2021Article
- [Rare thalassemia caused by novel nucleotide variants in the globin gene: four case reports and literature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2021Review
- A Cross-Sectional Study of Detection of Beta Globin (HBB) Haplotypes Among Beta Thalassemia Patients.Cureus · 2021Article
- Molecular epidemiology, pathogenicity, and structural analysis of haemoglobin variants in the Yunnan province population of Southwestern China.Scientific reports · 2019Article
- Analysis of deletional hereditary persistence of fetal hemoglobin/δβ-thalassemia and δ-globin gene mutations in Southerwestern China.Molecular genetics & genomic medicine · 2019Article
- β‑thalassemia caused by compound heterozygous mutations and cured by bone marrow transplantation: A case report.Molecular medicine reports · 2017Article
- Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing.International journal of molecular medicine · 2017Article
- β-globin gene cluster haplotypes in ethnic minority populations of southwest China.Scientific reports · 2017Article
- Haematological and electrophoretic characterisation of β-thalassaemia in Yunnan province of Southwestern China.BMJ open · 2017Article
- Mutation screening for thalassaemia in the Jino ethnic minority population of Yunnan Province, Southwest China.BMJ open · 2015Article
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesThe aim of this study was to investigate the geographic distribution of β-globin gene mutations in different ethnic groups in Yunnan province.
methodsFrom 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.
resultsEighteen 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 the most prevalent mutation in the populations of northeastern Yunnan. CD 17 (A>T) was the most common mutation in the populations of southeastern Yunnan, especially for the Zhuang minority, whereas Hb E (CD 26, G>A) was the most prevalent mutation in populations of southwestern Yunnan, especially for the Dai minority. Among the seven types of haplotypes identified, CD 17 (A>T) was mainly linked to haplotype VII (+ - - - - - +) and IVS-II-654 (C>T) was only linked to haplotype I (+ - - - - + +).
conclusionOur data underline the heterogeneity of β-globin gene mutations in Yunnan. This distribution 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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