title: A novel nonsense mutation in RHAG gene responsible for Rhnullphenotype in a Chinese individual.
abstract: BACKGROUND
  Rhnullis a rare autosomal recessive phenotype, which is characterized by the lack of Rh antigen expression on the red blood cells (RBCs). Rhnullof the regulator type is caused by RHAG mutation. In this study, a novel nonsense mutation in RHAG gene was identified in a Chinese Rhnullindividual.
  
  
  OBJECTIVE
  Rh phenotypes of the Rhnullindividual and his family members were typed by standard serological methods. DNA sequences of all ten exons of RHAG gene were analyzed using genomic DNA by polymerase chain reaction (PCR) and direct-sequencing.
  
  
  RESULTS
  Serological testing results showed a D-C-c-E-e- phenotype in the proband. Molecular analyses revealed a 540C>A mutation in exon 4 of RHAG gene was present at the homozygous state in the proband. His parents were heterozygous for the mutation, and his brother didn't carry the mutation. The 540C>A mutation was nonsense mutation, which led to a premature stop codon (Tyr180stop).
  
  
  CONCLUSIONS
  These results indicated that the 540C>A nonsense mutation in RHAG gene caused the regulator type of Rhnullphenotype in a Chinese individual. Our results contributed to a greater understanding of the genetic mechanisms of Rhnullphenotype.
authors.affiliation: Department of Hematology, Hematology, Department Research Laboratory, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, China. Electronic address: 37020658@qq.com.
authors.forename: Li
authors.initials: L
authors.lastname: Hou
authors.affiliation: Panzhihua Blood Center, Panzhihua, Sichuan, China.
authors.forename: Qi-Dong
authors.initials: QD
authors.lastname: Yan
authors.affiliation: Department of Blood Immunology, Institute of Blood Transfusion, Chinese Academy of Medical Sciences, Chengdu, Sichuan, China.
authors.forename: Li
authors.initials: L
authors.lastname: Tian
mesh_terms: D000328:Adult; D044466:Asian People; D001798:Blood Proteins / Q000235:genetics*; D002681:China; D018389:Codon, Nonsense; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D012204:Rh-Hr Blood-Group System / Q000235:genetics*
chemical_list: D001798:Blood Proteins; D018389:Codon, Nonsense; D008562:Membrane Glycoproteins; C498523:RHAG protein, human; D012204:Rh-Hr Blood-Group System
keywords: Nonsense mutation; RHAG gene; Rhnull