Immunohaematology

Distinctive Swann Blood Group Genotypes: Molecular Investigations
Teresa Zelinski^a,b, Alison Rusnak^b, Kirk McManus^b, Gail Coghlan<sup>a

a</sup>Rh Laboratory, Department of Pediatrics and Child Health,
^bDepartment of Human Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada

Address of Corresponding Author

Vox Sanguinis 2000;79:215-218 (DOI: 10.1159/000056733)

  Abstract

Background and Objectives: Phenotypically, Sw(a+) erythrocytes have been classified as either 700:4,41 or 700:4,-41. Since anti-700.4, in particular, and sometimes anti-700.41 are contained in reagents defining other low-incidence antigens that are members of the Diego blood group system, we undertook the current investigation in an attempt to establish whether or not Swann antigens are also Diego system members. Materials and Methods: DNA from the members of three unrelated kindreds whose red cells type as Sw(a+) was isolated and analyzed for variation in SLC4A1 (solute carrier family, anion exchanger member 1 gene) by single-strand conformational polymorphism (SSCP) and DNA sequence analyses. Results: Polymerase chain reaction-amplified exon 16 SLC4A1 products from the DNA of all Sw(a+) individuals displayed a mobility shift by SSCP. A similar mobility shift was not observed in the DNA from Sw(a-) family members or in the amplified DNA from control individuals. DNA sequencing revealed different mutations, CGGCAG and CGGTGG, that result in Arg646Gln and Arg646Trp substitutions in erythroid protein band 3, respectively. Conclusion: Through genotypic analyses, we have characterized two point mutations related to the Swann blood group. The possible relationship between the resultant amino acid substitutions and the expression of Swann antigens has been discussed.

Copyright © 2000 S. Karger AG, Basel

  Author Contacts

Dr. T. Zelinski
Rh Laboratory, University of Manitoba
770 Bannatyne Avenue, Room P009, Pathology Building
Winnipeg, Manitoba, R3E 0W3 (Canada)

  Article Information

Received: Received: January 11, 2000
Accepted: June 29, 2000
Revised manuscript received: June 5, 2000
Number of Print Pages : 4
Number of Figures : 2, Number of Tables : 0, Number of References : 23