Basic & Clinical Medicine ›› 2012, Vol. 32 ›› Issue (4): 447-450.

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Gene Mutation Analysis Of The Rh WeakD And DEL Phenotype

  

  • Received:2011-11-18 Revised:2012-02-24 Online:2012-04-05 Published:2012-03-21
  • Contact: Hui JIN E-mail:dongzl1@sina.com

Abstract: Abstract Objectives To investigate the molecular basis of the Rh weak D and DEL phenotype Methods Weak D and DEL phenotype expression were screened out with an indirect anti-human globulin test(IAT) and absorption elution test.Then the nucleotide sequences of ten exons of weak D and DEL phenotype were evaluated by a RHD gene-specific PCR-SSP and sequencing. Results Indicated that weak D phenotype harbored a RHD 845G >A mutation in exon 6 and harbored a 282Gly>Asp amino acid mutation in the ninth transmembrane and cytoplasmic regions of RhD prtione ,but DEL phenotype harbored a RHD 1227G >A mutation in exon 9 and this mutation is silence. Conclusion The RHD gene sequencing method is established , the molecular basis of weak D and DEL phenotype is characterized ,and this study is the basis for discovering the new D variation phenotypes and new RHD alleles.

Key words: RHD gene weak D phenotype DEL phenotype sequencing