Genomic characterisation of the Jk(a-b-) phenotype in Thai blood donors.

ABSTRACT: BACKGROUND: The Kidd (JK) blood group antigens are encoded by the JK gene. The rare Jk(a-b-) phenotype can be caused by homozygosity for a silent JK allele. Currently, JK(null) alleles have been identified among different populations; however, information on its presence among Thais is not available. MATERIALS AND METHODS: Screening for the Jk(a-b-) phenotype by the urea lysis test was performed in 25,340 blood samples from Thai blood donors. The Jk(a-b-) phenotypes were confirmed by an indirect antiglobulin test (IAT). Additionally, polymerase chain reaction amplification and sequence analysis of the JK gene were performed using previously described methods. RESULTS: Five samples were confirmed as having a Jk(a-b-) phenotype by a urea lysis test and IAT; four of these samples were investigated. Two samples of JK*02 alleles were homozygous for a g>a mutation at the 3' acceptor splice site of intron 5 of the JK gene, as in previous studies in Asians and Polynesians. Moreover, one sample of JK*02 alleles was homozygous for an 896G>A mutation at exon 9 (Gly299Glu), as in a previous study in Polynesians. Interestingly, missense dual mutations of JK*01 alleles from a female blood donor were identified. The first mutation was 956C>T (Thr319Met) in exon 10, as in a recent study in African-Americans. The second mutation was 130G>A (Glu44Lys) at exon 4, as in previous studies among Caucasians. CONCLUSION: There are various different molecular bases of the Jk(a-b-) phenotype. This is the first report of JK(null) alleles among Thais. The information presented in this study could be beneficial in planning genotyping strategies for blood donors and patients.

SUBMITTER: Sriwanitchrak P 

PROVIDER: S-EPMC3320777 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature