title: Genetic heterogeneity of the β-globin gene in various geographic populations of Yunnan in southwestern China.
abstract: OBJECTIVE
  The aim of this study was to investigate the geographic distribution of β-globin gene mutations 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 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 (+ - - - - + +).
  
  
  CONCLUSIONS
  Our 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.
authors: Genetic Diagnosis Center, Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, the First People's Hospital of Yunnan Province, Kunming, People's Republic of China; Genetics Department, Kunming University of Science and Technology, Kunming, People's Republic of China.
authors: Jie
authors: J
authors: Zhang
authors: Genetic Diagnosis Center, Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, the First People's Hospital of Yunnan Province, Kunming, People's Republic of China; Genetics Department, Kunming University of Science and Technology, Kunming, People's Republic of China.
authors: Jing
authors: J
authors: He
authors: Genetic Diagnosis Center, Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, the First People's Hospital of Yunnan Province, Kunming, People's Republic of China; Genetics Department, Kunming University of Science and Technology, Kunming, People's Republic of China.
authors: Xiao-Hong
authors: XH
authors: Zeng
authors: Department of Clinical Laboratory, the Peoples' Hospital of Dehong Autonamic Prefecture of Dai and Jingpo, Mangshi, People's Republic of China.
authors: Shi-Jun
authors: SJ
authors: Ge
authors: Department of Clinical Laboratory, Maternal and Child Health Hospital of Menghai, Menghai, People's Republic of China.
authors: Yu
authors: Y
authors: Huang
authors: Genetic Diagnosis Center, Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, the First People's Hospital of Yunnan Province, Kunming, People's Republic of China; Genetics Department, Kunming University of Science and Technology, Kunming, People's Republic of China.
authors: Jie
authors: J
authors: Su
authors: Genetic Diagnosis Center, Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, the First People's Hospital of Yunnan Province, Kunming, People's Republic of China; Genetics Department, Kunming University of Science and Technology, Kunming, People's Republic of China.
authors: Xue-Mei
authors: XM
authors: Ding
authors: Genetic Diagnosis Center, Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, the First People's Hospital of Yunnan Province, Kunming, People's Republic of China; Genetics Department, Kunming University of Science and Technology, Kunming, People's Republic of China.
authors: Ji-Qing
authors: JQ
authors: Yang
authors: Genetic Diagnosis Center, Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, the First People's Hospital of Yunnan Province, Kunming, People's Republic of China; Genetics Department, Kunming University of Science and Technology, Kunming, People's Republic of China.
authors: Yong-Jiu
authors: YJ
authors: Cao
authors: Genetic Diagnosis Center, Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, the First People's Hospital of Yunnan Province, Kunming, People's Republic of China; Genetics Department, Kunming University of Science and Technology, Kunming, People's Republic of China.
authors: Hong
authors: H
authors: Chen
authors: Genetic Diagnosis Center, Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, the First People's Hospital of Yunnan Province, Kunming, People's Republic of China; Genetics Department, Kunming University of Science and Technology, Kunming, People's Republic of China.
authors: Ying-Hong
authors: YH
authors: Zhang
authors: Genetic Diagnosis Center, Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, the First People's Hospital of Yunnan Province, Kunming, People's Republic of China; Genetics Department, Kunming University of Science and Technology, Kunming, People's Republic of China.
authors: Bao-Sheng
authors: BS
authors: Zhu
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D055544:beta-Globins