title: [Gene Mutation Spectrum of β-Thalassemia in Dai Ethinic Population of Two Border Region in Chinese Yunnan Province].
abstract: OBJECTIVE
  To investigate the gene mutation spectrum of β-thalassemia in Dai ethnic population of 2 border region in Chinese Yunnan Province.
  
  
  METHODS
  The patients with β-thalassemia in Dai ethnic population of Dehong and Xishuangbanna autonamic prefecture were screened by using blood routine detection and capillary electrophoresis. The β-globin gene mutation in patients with β-thalassemia were detected by using PCR reverse dot-blot hybridization (PCR-RDB), the constitutive rate of gene mutation in patients with β-thalassemia of Dai ethnic population in two border regions was analyzed and compared.
  
  
  RESULTS
  A total of 186 patients with gene mutation of β-thalassemia were confirmed. Among them, 10 gene mutation were found, and the 5 main gene mutations were CD26 (62.56%), CD41-42 (18.97%), CD17 (14.36%), CD71-72 (2.05%) and IVS-II-654 (1.54%). Among Dai ethinic population in Dehong region, 4 gene mutations were found including CD26 (80.31%), CD17 (11.02%), CD41-42 (6.30%) and CD71-72 (2.36%). Among Dai ethinic population in Xishuangbanna region, 6 gene mutations were found, out of them the more common gene mutations were CD41-42 (42.64%), CD26 (29.41%) and CD17 (20.59%).
  
  
  CONCLUSIONS
  The gene mutations of β-thalassemia in Dai ethinic population of Yunnan province has been confirmed to be more genetic heterogenicity, the spectrums of β-thalassemia mutations in Dai ethinic population of different regions were significant different.
authors.affiliation: Genetic Diagnosis Center, The First People's Hospital of Yunnan Province, Kunming 650032, Yunnan Province, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Genetic Diagnosis Center, The First People's Hospital of Yunnan Province, Kunming 650032, Yunnan Province, China.
authors.forename: Jing
authors.initials: J
authors.lastname: He
authors.affiliation: Genetic Diagnosis Center, The First People's Hospital of Yunnan Province, Kunming 650032, Yunnan Province, China.
authors.forename: Xiao-Hong
authors.initials: XH
authors.lastname: Zeng
authors.affiliation: Genetic Diagnosis Center, The First People's Hospital of Yunnan Province, Kunming 650032, Yunnan Province, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Su
authors.affiliation: Genetic Diagnosis Center, The First People's Hospital of Yunnan Province, Kunming 650032, Yunnan Province, China.
authors.forename: Hong
authors.initials: H
authors.lastname: Chen
authors.affiliation: Department of Clinical Laboratory, Maternal and Child Health Hospital of Dehong Autonamic Prefecture, Mangshi 678400, Yunnan Province, China.
authors.forename: Yong-Mei
authors.initials: YM
authors.lastname: Xu
authors.affiliation: Department of Laboratorial Examination, Maternal and Child Health Hospital of Xishuangbanna Autonamic Prefecture, Jinghong 666100, Yunnan Province, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Pu
authors.affiliation: Genetic Diagnosis Center, The First People's Hospital of Yunnan Province, Kunming 650032, Yunnan Province, China. E-mail: bszhu@aliyun.com.
authors.forename: Bao-Sheng
authors.initials: BS
authors.lastname: Zhu
mesh_terms: D015703:Antigens, CD / Q000235:genetics; D044466:Asian People; D002681:China; D004252:DNA Mutational Analysis; D019075:Electrophoresis, Capillary; D005006:Ethnicity; D015316:Genetic Therapy; D006801:Humans; D009154:Mutation; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000208:ethnology* / Q000235:genetics*
chemical_list: D015703:Antigens, CD; D055544:beta-Globins