Correlation of a missense mutation at nucleotide 385 in Chinese Han population FUT2 gene with the Lewis phenotype

Objective To analyse the correlation between Lewis phenotype and FUT2 385 mutation in Chinese Han population. Methods 73 Chinese were phenotyped for Le aand Le b,DNA samples were studied by PCR-SSP to distinguish wild type and 385 mutations of FUT2 gene.Direct sequencing was done for controls. Results The frequencies of 385 mutation alleles among 73 Chinese Han individuals were 54.79%,the phenotypes Lewis-positive and homozygous for the mutation were Le(a+b+) and Le(a+b-), 13 of 73(17.8%) was Le(a+b-),6 of 73(8.2%) was Le(a+b+) .Conclusion Both Le(a+b+) and Le(a+b-) have the same genetic basis,A385T mutation in Chinese.