Study on the gene polymorphism of Auberger antigens in Chinese population / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To 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.</p><p><b>METHODS</b>Peripheral 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.</p><p><b>RESULTS</b>Auberger 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.</p><p><b>CONCLUSION</b>The 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).</p>