title: Alleles of the LAN blood group system: molecular and serologic investigations.
abstract: BACKGROUND
  Anti-Lan has been implicated in hemolytic transfusion reactions and hemolytic disease of the fetus and newborn. The LAN blood group system is encoded by ABCB6, whose gene product, ABCB6, belongs to the ATP-binding cassette (ABC) efflux transporter superfamily. The purpose of this study was to characterize additional alleles by analyzing DNA from 14 (13 unrelated) subjects whose red blood cells were serologically defined as Lan-, Lan+(w) /-, or Lan+(w) .
  
  
  METHODS
  Genomic DNA was extracted from blood samples recovered from liquid nitrogen storage. Intronic primers flanking each of the ABCB6 coding exons were used for polymerase chain reaction amplification. Amplicons were sequenced and analyzed by standard methods.
  
  
  RESULTS
  Among the study subjects, we identified five alleles (one with a nonsense change, three with frameshifts, one with a missense change) that encode the Lan- phenotype and four alleles (with missense changes) encoding either Lan+(w) or Lan+(w) /- phenotypes.
  
  
  CONCLUSIONS
  Of the nine alleles we identified, three were novel and six were previously documented in the dbSNP. Of these six, only one allele was previously associated with Lan negativity. To date, 19 ABCB6 alleles that encode Lan- or Lan+(w) /-, or Lan+(w) phenotypes have been described.
authors.affiliation: Laboratory of Immunochemistry, New York Blood Center, New York, New York; Laboratory of Immunohematology and Genomics, New York Blood Center, New York, New York; Japanese Red Cross Kinki Block Blood Center, Ibaraki, Japan; Rh Laboratory, Department of Pediatrics and Child Health, Faculty of Medicine, University of Manitoba; Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba.
authors.forename: Marion E
authors.initials: ME
authors.lastname: Reid
authors.forename: Kim
authors.initials: K
authors.lastname: Hue-Roye
authors.forename: Angela
authors.initials: A
authors.lastname: Huang
authors.forename: Randall W
authors.initials: RW
authors.lastname: Velliquette
authors.forename: Yoshihiko
authors.initials: Y
authors.lastname: Tani
authors.forename: Connie M
authors.initials: CM
authors.lastname: Westhoff
authors.forename: Christine
authors.initials: C
authors.lastname: Lomas-Francis
authors.forename: Teresa
authors.initials: T
authors.lastname: Zelinski
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000097:blood* / Q000235:genetics*; D000328:Adult; D000483:Alleles; D001782:Blood Donors; D001789:Blood Group Antigens / Q000097:blood* / Q000235:genetics*; D018389:Codon, Nonsense; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype
chemical_list: C107991:ABCB6 protein, human; D018528:ATP-Binding Cassette Transporters; D001789:Blood Group Antigens; D018389:Codon, Nonsense