title: [Detection of common deletions and mutations causing α-thalassemia in Southeast Asians and Southern Chinese with denaturing high performance liquid chromatography].
abstract: OBJECTIVE
  To establish a comprehensive and simple assay using denaturing high performance liquid chromatography (DHPLC) for the diagnosis of most common mutations and deletions of α-thalassemia gene in Southeast Asians and Southern Chinese.
  
  
  METHODS
  This assay has included a duplex polymerase chain reaction (PCR) followed by DHPLC analysis. An improved PCR was also performed followed by DHPLC analysis. With this assay, a blinded study of 160 samples was screened for three common mutations and three common deletions.
  
  
  RESULTS
  The duplex PCR-DHPLC combined with the improved PCR-DHPLC analysis has detected all mutations and the wild-type allele. The results were consistent with those by the original methods.
  
  
  CONCLUSIONS
  This molecular assay may be used for the diagnosis of α-thalassemia patients from this geographical region. The method is accurate, rapid, semi-automatic and cost-effective, which makes it suitable for large-scale screening.
authors.affiliation: Capital Medical University, Beijing, People's Republic of China.
authors.forename: Xing-yuan
authors.initials: XY
authors.lastname: Jia
authors.forename: Xiao-jing
authors.initials: XJ
authors.lastname: Wei
authors.forename: Ning
authors.initials: N
authors.lastname: Tang
authors.forename: Li-rong
authors.initials: LR
authors.lastname: Wang
authors.forename: Han
authors.initials: H
authors.lastname: Han
authors.forename: Mei-ling
authors.initials: ML
authors.lastname: Zheng
authors.forename: Ren
authors.initials: R
authors.lastname: Cai
authors.forename: Bai
authors.initials: B
authors.lastname: Xiao
authors.forename: Jing-zhong
authors.initials: JZ
authors.lastname: Liu
mesh_terms: D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D004252:DNA Mutational Analysis / Q000379:methods*; D023061:Gene Order; D005838:Genotype; D006801:Humans; D055542:alpha-Globins / Q000235:genetics; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D055542:alpha-Globins