title: [Analysis of Kell blood group system using polymerase chain reaction-restriction fragment-single strand conformation polymorphism combined with heteroduplex in Chinese].
abstract: OBJECTIVE
  To investigate the polymorphism of Kell blood group system in Chinese and to find a suitable method for large scale screening.
  
  
  METHODS
  An analysis method of polymerase chain reaction-restriction fragment-single strand conformation polymorphism (PCR-RF-SSCP) combined with heteroduplex was established to detect abnormal sample in KEL exon 7-9 area, then sequencing was used to find out the mutation site.
  
  
  RESULTS
  Two mutations were found from 500 samples: 966G > A mutation in exon 9 and C > A mutation in 67th site of intron 7, both with no amino acid change. The mutation rate was 4/1000. No mutation was found as missed in using PCR-RF-SSCP combined with heteroduplex.
  
  
  CONCLUSIONS
  PCR-RF-SSCP combined with heteroduplex is confirmed as an effective, economical and simple method, it is quite suitable for large scale population screening study with unclear gene background and unavailable positive controls. Since there is special polymorphism for Kell blood group system in Chinese, further study is needed.
authors.affiliation: Blood Group Reference Laboratory, Shanghai Blood Center, Shanghai, 200051 PR China. yangyinghla@yahoo.com.cn
authors.forename: Ying
authors.initials: Y
authors.lastname: Yang
authors.forename: Yu-xian
authors.initials: YX
authors.lastname: Zhang
authors.forename: Zhong-hui
authors.initials: ZH
authors.lastname: Guo
authors.forename: Zi-yan
authors.initials: ZY
authors.lastname: Zhu
mesh_terms: D044466:Asian People / Q000235:genetics; D002681:China; D020180:Heteroduplex Analysis / Q000379:methods*; D006801:Humans; D007626:Kell Blood-Group System / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D007626:Kell Blood-Group System