BACKGROUND: The clinically important Kidd (JK) blood group system is considered to be relatively uncomplicated, both serologically and genetically. The JK*01 and JK*02 alleles give rise to Jk(a) and Jk(b) antigens, respectively, and silenced alleles result in Jk(a-b-). Other inherited variants analogous to Fy(x) and weak D phenotypes have not been characterized for JK, although recent abstracts indicate their presence. STUDY DESIGN AND METHODS: Six index samples from individuals whose RBCs reacted variably or weakly with different sources of anti-Jk(a) and 300 controls of the four known JK phenotypes were investigated by standard serology, flow cytometry, Western blotting, and the urea hemolysis test. Molecular analysis, including allele-specific polymerase chain reaction (PCR), DNA sequencing, and transcript analysis by real-time PCR, was performed. RESULTS: All Jk(a+(w)b-) and Jk(a+(w)b+) index samples were homo- or heterozygous for an altered JK*01 allele carrying 130G>A (Glu44Lys) and the JK*02-associated silent SNPs 588G and Intron 9 -46g. Blood donor screening indicated an allele frequency of 0.042. Titration and flow cytometry with anti-Jk(a) gave lower values in index samples compared to controls, as did anti-Jk3 titers. Donors with 130A also showed significantly decreased Jk(a) density by flow cytometry versus 130G. Western blotting with anti-UT-B demonstrated weaker reactivity with Jk(a+(w)) membranes while JK mRNA levels could not discriminate index samples from controls. The urea hemolysis test was only moderately affected in two Jk(a+(w)b-) samples. CONCLUSIONS: A new phenotype with weakened Jk(a) expression on RBCs is associated with a JK*01-like allele, which may constitute a risk for hemolytic transfusion reactions if antigen-positive units are missed by routine serology.
BACKGROUND: The clinically important Kidd (JK) blood group system is considered to be relatively uncomplicated, both serologically and genetically. The JK*01 and JK*02 alleles give rise to Jk(a) and Jk(b) antigens, respectively, and silenced alleles result in Jk(a-b-). Other inherited variants analogous to Fy(x) and weak D phenotypes have not been characterized for JK, although recent abstracts indicate their presence. STUDY DESIGN AND METHODS: Six index samples from individuals whose RBCs reacted variably or weakly with different sources of anti-Jk(a) and 300 controls of the four known JK phenotypes were investigated by standard serology, flow cytometry, Western blotting, and the urea hemolysis test. Molecular analysis, including allele-specific polymerase chain reaction (PCR), DNA sequencing, and transcript analysis by real-time PCR, was performed. RESULTS: All Jk(a+(w)b-) and Jk(a+(w)b+) index samples were homo- or heterozygous for an altered JK*01 allele carrying 130G>A (Glu44Lys) and the JK*02-associated silent SNPs 588G and Intron 9 -46g. Blood donor screening indicated an allele frequency of 0.042. Titration and flow cytometry with anti-Jk(a) gave lower values in index samples compared to controls, as did anti-Jk3 titers. Donors with 130A also showed significantly decreased Jk(a) density by flow cytometry versus 130G. Western blotting with anti-UT-B demonstrated weaker reactivity with Jk(a+(w)) membranes while JK mRNA levels could not discriminate index samples from controls. The urea hemolysis test was only moderately affected in two Jk(a+(w)b-) samples. CONCLUSIONS: A new phenotype with weakened Jk(a) expression on RBCs is associated with a JK*01-like allele, which may constitute a risk for hemolytic transfusion reactions if antigen-positive units are missed by routine serology.
Authors: Montserrat Garcia-Closas; Yuanqing Ye; Nathaniel Rothman; Jonine D Figueroa; Núria Malats; Colin P Dinney; Nilanjan Chatterjee; Ludmila Prokunina-Olsson; Zhaoming Wang; Jie Lin; Francisco X Real; Kevin B Jacobs; Dalsu Baris; Michael Thun; Immaculata De Vivo; Demetrius Albanes; Mark P Purdue; Manolis Kogevinas; Ashish M Kamat; Seth P Lerner; H Barton Grossman; Jian Gu; Xia Pu; Amy Hutchinson; Yi-Ping Fu; Laurie Burdett; Meredith Yeager; Wei Tang; Adonina Tardón; Consol Serra; Alfredo Carrato; Reina García-Closas; Josep Lloreta; Alison Johnson; Molly Schwenn; Margaret R Karagas; Alan Schned; Gerald Andriole; Robert Grubb; Amanda Black; Eric J Jacobs; W Ryan Diver; Susan M Gapstur; Stephanie J Weinstein; Jarmo Virtamo; David J Hunter; Neil Caporaso; Maria Teresa Landi; Joseph F Fraumeni; Debra T Silverman; Stephen J Chanock; Xifeng Wu Journal: Hum Mol Genet Date: 2011-08-08 Impact factor: 6.150
Authors: Julien Paganini; Peter L Nagy; Nicholas Rouse; Philippe Gouret; Jacques Chiaroni; Chistophe Picard; Julie Di Cristofaro Journal: PLoS One Date: 2020-11-12 Impact factor: 3.240