Lutheran a antigen (Lua) is detected in 6 to 8% of Caucasians and Africans. In Korean and other Asian populations, it is very rare or nearly absent. Therefore, although Lua has a considerable immunizing capacity, sensitization to Lua is a rare event. Here we report on a rare case of anti-Lua in a 70 year-old female patient with Lu (a-/b+) phenotype and review the relevant literature. Due to the paucity of Lua positive panel cells in antibody screening and identification tests, detection of this rare antibody to Lua antigen is not feasible. Therefore, we should keep in mind the possibility of the misleading false negative result in detection of antibody to this low incidence antigen.
Asian Continental Ancestry Group ; Female ; Humans ; Incidence ; Lutheran Blood-Group System ; Mass Screening ; Phenotype ; Protestantism

OBJECTIVETo study the frequency of rare blood group Lu(a-b-) phenotype in a population from Shanghai region, and to explore the molecular basis of Lu(a-b-) by detecting the Lu and Lu relative mediator gene EKLF/KLF1.

METHODSDonors from Shanghai region were screened for Lutheran blood group by monoclonal anti-Lub using serological methods. Individuals with Lu(b-) were determined Lua, P1 and i antigens. Fifteen exons of the LU gene and 3 exons of the EKLF/KLF1 gene for the identified Lu(a-b-) samples were amplified and sequenced.

RESULTSTen Lu(a-b-) donors were obtained from 44 331 donors from Shanghai region. No homozygous or heterozygous mutations were found in the LU gene, whilst 7 mutations in EKLF/KLF1 gene were identified in the 10 samples.

CONCLUSIONThe frequency of rare Lu(a-b-) blood group in Shanghai was approximately 0.02%, and all the individuals had an In(Lu) phenotype. The molecular basis of such samples may be related to mutations in the EKLF/KLF1 gene.

China ; ethnology ; Humans ; Kruppel-Like Transcription Factors ; genetics ; Lutheran Blood-Group System ; genetics ; Mutation ; Phenotype

OBJECTIVETo study the gene polymorphism of the Auberger antigens in Lutheran blood group system in Chinese population and establish a stable, accurate molecular method detecting Auberger antigens.

METHODSPeripheral blood samples from 162 randomly collected and unrelated volunteer blood donors were directly sequenced for the exon 12 at the gene locus of Auberger antigens. PCR products with novel nucleotide were further investigated by restriction fragment length polymorphism (RFLP) analysis.

RESULTSAuberger genotypes in the 162 Chinese individuals were obtained: Au(a+ b- )(nt1615A) was found in 119 individuals, Au(a+ b+ ) (nt1615A/G) in 40 individuals and Au(a- b+ ) (nt1615G) in 3 individuals. The allele frequencies of the Au(a) and Au(b) were 0.8580 and 0.1420, respectively. An individual with homozygous Au(a) genotype had a nucleotide mutation (1595 G to T). The mutation was confirmed by digesting the DNA with Hha I.

CONCLUSIONThe distribution of gene polymorphism of Auberger antigens in a Chinese population was investigated and obtained. And a molecular method determining the Auberger antigen was established. A novel Lutheran allele was deposited in GenBank (accession number EU260043).

Amino Acid Sequence ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; DNA Mutational Analysis ; Female ; Gene Frequency ; Haplotypes ; Humans ; Lutheran Blood-Group System ; chemistry ; genetics ; Male ; Molecular Sequence Data ; Polymorphism, Genetic