title: [Gene Analysis of Thalassemia in Han and Dai Ethnic Childbearing-aged Population of Chinese Yunnan Province].
abstract: OBJECTIVE
  To investigate the common mutation spectrum of α- and β-thalassemia in Yunnan childbearing-aged population.
  
  
  METHODS
  The common mutation types of α- or β-globin genes were detected by multiple Gap-PCR and the PCR-reversed dot blotting, and the unknown mutation types were determined by DNA sequencing in DNA samples of hypochromic microcytic anemia patients and carriers who were confirmed to be positive by serologic screaning, then the mutation types of globin in Yunnan population were analyzed statistically.
  
  
  RESULTS
  A total of 40 kinds of mutation types were detected in 685 detected persons, among them the 3 commonest mutation types of α-globin genes were --(SEA)/αα (49.09%), -α(3.7)/αα (36.67%) and α(CS)α/αα (8.79%), the 3 commonest genetypes of β-globin gene were CD26(GAG>AAG)/N (43.78%), CD41-42(-CTTT)/N (20.1%) and CD17(AAG>TAG)/N (18.9%). There were 348 Han and 212 Dai ethnic persons in 685 cases, but their mutation of globin genes were different between these 2 ethnic groups. The results also showed that the gene mutation types were mostly concentrated in Dai ethnic individuals, since 28 of 38 detected α-β-thalassemia cases were Dai ethnic individuals.
  
  
  CONCLUSIONS
  The mutation spectrums of α- and β-globin genes in Yunnan childbearing-aged population are diverse and different from that in other areas of China.
authors.affiliation: Genetic Diagnosis Center, Key Laboratory for Birth Defects and Genetic Diseases, 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, Key Laboratory for Birth Defects and Genetic Diseases, 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: Maternal and Child Health Hospital of Dehong Autonamic Prefecture of Dai and Jingpo, Mangshi 678400, Yunnan Province, China.
authors.forename: Yong-Mei
authors.initials: YM
authors.lastname: Xu
authors.affiliation: Maternal and Child Health Hospital of Xishuangbanna Autonamic Prefecture of Dai, Jinghong 666100, Yunnan Province, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Pu
authors.affiliation: Maternal and Child Health Hospital of Xishuangbanna Autonamic Prefecture of Dai, Jinghong 666100, Yunnan Province, China.
authors.forename: Feng-Zhen
authors.initials: FZ
authors.lastname: Zhou
authors.affiliation: Genetic Diagnosis Center, Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming 650032, Yunnan Province, China.
authors.forename: Chan-Chan
authors.initials: CC
authors.lastname: Jin
authors.affiliation: Genetic Diagnosis Center, Key Laboratory for Birth Defects and Genetic Diseases, 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, Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming 650032, Yunnan Province, China.
authors.forename: Jin-Man
authors.initials: JM
authors.lastname: Zhang
authors.affiliation: Genetic Diagnosis Center, Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming 650032, Yunnan Province, China.
authors.forename: Hong
authors.initials: H
authors.lastname: Chen
authors.affiliation: Genetic Diagnosis Center, Key Laboratory for Birth Defects and Genetic Diseases, 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, Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming 650032, Yunnan Province, China.
authors.forename: Sun-Yun
authors.initials: SY
authors.lastname: Li
authors.affiliation: Genetic Diagnosis Center, Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming 650032, Yunnan Province, China.
authors.forename: Yin-Hong
authors.initials: YH
authors.lastname: Zhang
authors.affiliation: Genetic Diagnosis Center, Key Laboratory for Birth Defects and Genetic Diseases, 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: D000510:Alpha-Globulins / Q000235:genetics*; D000747:Anemia, Hypochromic / Q000208:ethnology / Q000235:genetics; D044466:Asian People; D002681:China; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D017085:alpha-Thalassemia / Q000208:ethnology* / Q000235:genetics*; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000208:ethnology* / Q000235:genetics*
chemical_list: D000510:Alpha-Globulins; D055544:beta-Globins