title: [Analysis of β -thalassemia mutations in Guizhou Province].
abstract: OBJECTIVE
  To investigate the spectrum of β -thalassemia mutations in Guizhou Province.
  
  
  METHODS
  For 542 individuals suspected to have β -thalassemia by decreased mean corpuscular volume (MCV) and corpuscle hemoglobin (MCH) by routine blood test and hemoglobin electrophoresis, reverse dot blot hybridization (RDB) was performed to detect 17 known β -thalassemia mutations, including 8 common and 9 rare mutations. For cases where no mutation was identified, the entire human β -globin gene was screened to find other rare mutations. The distribution and frequencies of detected β -thalassemia mutations were then analyzed.
  
  
  RESULTS
  A total of 460 individuals were diagnosed as β -thalassemia by DNA analysis, which included 352 heterozygotes, 67 compound heterozygotes and 41 mutant homozygotes. A total of 12 β -thalassemia mutations were detected in these individuals. The mutations have ranked from high to low frequency as: CD17 (40.74%), CD41-42 (33.69%), IVS-II-654 (13.76%), -28 (3.70%), β E (3.35%), CD71-72(1.94%), CD43 (1.06%), IVS-I-1 (0.71%), CD27-28 (0.35%), -29(0.35%), CAP (0.18%), and CD121 (0.18%). The former six mutations have accounted for 97.18% of all. CD121 (GAA> TAA) detected from a heterozygote, as a dominant mutation, has been firstly found in the Chinese population.
  
  
  CONCLUSIONS
  The spectrum of β -thalassemia in Guizhou Province showed certain distinct characteristics, with CD17 being the most common mutation. The newly discovered mutation of CD121 has expanded the spectrum of β -thalassemia in Chinese population. Our result may provide valuable information for the prevention and control of β -thalassemia in Guizhou.
authors.affiliation: Department of Clinical Laboratory, Guizhou Provincial People's Hospital, Guiyang, Guizhou 550002, P.R.China. hsw713@sina.com.
authors.forename: Xingmei
authors.initials: X
authors.lastname: Liu
authors.forename: Li
authors.initials: L
authors.lastname: Su
authors.forename: Guifang
authors.initials: G
authors.lastname: Li
authors.forename: Xian
authors.initials: X
authors.lastname: Wu
authors.forename: Rulei
authors.initials: R
authors.lastname: Wang
authors.forename: Shengwen
authors.initials: S
authors.lastname: Huang
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D051917:Leukosialin / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D040201:Platelet Membrane Glycoprotein IIb / Q000235:genetics; D053573:Receptors, Interleukin-1 Type I / Q000235:genetics; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*
chemical_list: D051917:Leukosialin; D040201:Platelet Membrane Glycoprotein IIb; D053573:Receptors, Interleukin-1 Type I; D055544:beta-Globins