title: [Genetic analysis of β -thalassemia mutations in the minority populations of Guizhou province].
abstract: OBJECTIVE
  To investigate the gene mutation frequencies and patterns of β-thalassemia (β-thal) in the minority populations of Guizhou province.
  
  
  METHODS
  Three thousand and five hundred couples in the reproductive age were screened by using automatic hemocyte analyzer and hemoglobin autoanalyzer-variant. The diagnostic criteria for β-thal were: the mean corpuscular volume (MCV) was ≤ 82 fl, and the HbA(2) level was ≥ 3.5%. A total of 194 positive samples were detected and further identified by PCR-reverse dot blot (PCR-RDB) assay for 18 common β -thal mutations in Chinese population. Those subjects with positive phenotypes but without the 18 common β-thal mutations were subjected to DNA sequence analysis of the β-globin gene.
  
  
  RESULTS
  One hundred and eighty-nine samples with gene mutations were observed from the 3500 samples, with the incidence of β-thal being 5.4%. A total of 10 different β-thal mutations were identified from the 189 diagnosed samples. The five most common mutations were as the following: CD17 (43.9%), CD41-42 (38.6%), IVS-II-654(10.1%), -28 (2.6%) and CD71-72 (1.6%). In addition, a novel β-globin gene mutation (-CD53) allele was detected. One rare mutation of IntM was observed.
  
  
  CONCLUSIONS
  The minority population in Guizhou province is of high risk of β-thal. It is recommended that more attention should be paid to detect the carriers of β-thal in the population in reproductive age by hematologic screening and common gene diagnosis in the area with high risk of β-thal.
authors.affiliation: Population and Family Planning Institute of Guizhou Province, Guiyang, Guizhou, P.R. China. yufang3@sina.com
authors.forename: Fang
authors.initials: F
authors.lastname: Yu
authors.forename: Chunli
authors.initials: C
authors.lastname: Zhong
authors.forename: Qiang
authors.initials: Q
authors.lastname: Zhou
authors.forename: Yuan
authors.initials: Y
authors.lastname: Yang
authors.forename: Wei
authors.initials: W
authors.lastname: Li
authors.forename: Bing
authors.initials: B
authors.lastname: Liu
authors.forename: Shaojin
authors.initials: S
authors.lastname: Pan
authors.forename: Kaiyuan
authors.initials: K
authors.lastname: Tang
authors.forename: Rong
authors.initials: R
authors.lastname: Fang
authors.forename: Weijun
authors.initials: W
authors.lastname: Jin
mesh_terms: D000328:Adult; D001483:Base Sequence; D002681:China / Q000208:ethnology; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D055544:beta-Globins