Identification of the Kna/Knb polymorphism and a method for Knops genotyping

Transfusion. 2004 Feb;44(2):164-9. doi: 10.1111/j.1537-2995.2004.00615.x.

Abstract

Background: DNA mutations resulting in the McCoy and Swain-Langley polymorphisms have been identified on complement receptor 1 (CR1)-a ligand for rosetting of Plasmodium falciparum-infected RBCs. The molecular identification of the Kna/Knb polymorphism was sought to develop a genotyping method for use in the study of the Knops blood group and malaria.

Study design and methods: CR1 deletion constructs were used in inhibition studies of anti-Kna. PCR amplification of Exon 29 was followed by DNA sequencing. A PCR-RFLP was developed with NdeI, BsmI, and MfeI for the detection of Kna/Knb, McCa/McCb, and Sl1/Sl2, respectively. Knops phenotypes were determined with standard serologic techniques.

Results: A total of 310 Malian persons were phenotyped for Kna with 200 (64%) Kn(a+) and 110 (36%) Kn(a-). Many of the Kn(a-) exhibited the Knops-null phenotype, that is, Helgeson. The Kna/b DNA polymorphism was identified as a V1561M mutation with allele frequencies of Kna (V1561) 0.9 and Knb (M1561) 0.1.

Conclusion: The high frequency (18%) of Knb in West African persons suggests that it is not solely a Caucasian trait. Furthermore, because of the high incidence of heterozygosity as well as amorphs, accurate Knops typing of donors of African descent is best accomplished by a combination of molecular and serologic techniques.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Black People / genetics
  • Black or African American / genetics
  • Blood Group Antigens / genetics*
  • Genotype
  • Humans
  • Incidence
  • Malaria / ethnology
  • Malaria / genetics*
  • Mali / epidemiology
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Receptors, Complement 3b / genetics*
  • United States / epidemiology
  • White People / genetics

Substances

  • Blood Group Antigens
  • Receptors, Complement 3b