title: [Detection of deletional determinants of alpha-thalassemia in Li people in Hainan province by a single tube multiplex polymerase chain reaction method].
abstract: OBJECTIVE
  To develop a single tube multiplex polymerase chain reaction technique (mPCR) and use it to screen 3 deletional alpha-globin genes, namely -alpha(3.7), -alpha(4.2) (single gene deletion), and --SEA (South East Asia double gene deletion) in the Li people in Hainan province.
  
  
  METHODS
  Based on previously developed 3 separate PCR methods used to detect the -alpha(3.7), -alpha(4.2), --SEA respectively, a single tube mPCR was investigated, optimized, and used to detect the genotypes of 40 samples from well-known alpha-thalassemia patients and 116 non-relative individuals of Li nationality in Hainan province.
  
  
  RESULTS
  The results of the 40 samples detected by mPCR were the same as those by the 3 separate PCR Methods. Among the 116 sample, the combined incidence of -alpha(3.7) and -alpha(4.2) was found to be as high as 38.0%, and the -alpha(4.2) genotype was more frequent than the -alpha(3.7) genotype in the Li people. No --(SEA) deletion was found in the Li people.
  
  
  CONCLUSIONS
  The mPCR technique shows a good sensitivity and specificity. The Hainan Li people has the highest incidence of -alpha(3.7) and -alpha(4.2) among Chinese.
authors.affiliation: Clinical Laboratory Center, Beijing Chaoyang Hospital affiliated to Capital University of Medical Sciences, Beijing 100020, China.
authors.forename: Jing-zhong
authors.initials: JZ
authors.lastname: Liu
authors.forename: Cai-ying
authors.initials: CY
authors.lastname: Ou
authors.forename: Li-rong
authors.initials: LR
authors.lastname: Wang
authors.forename: Bai
authors.initials: B
authors.lastname: Xiao
authors.forename: Li-jia
authors.initials: LJ
authors.lastname: Huang
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhou
authors.forename: Li-chang
authors.initials: LC
authors.lastname: Chen
mesh_terms: D000328:Adult; D002681:China; D017353:Gene Deletion; D005914:Globins / Q000235:genetics*; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D005914:Globins