The genetic diversity in the full coding region of human FUT5 gene in a Chinese Han population / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To reveal the sequence variations of the full coding region of the human alpha (1,beta/1,4) fucosyltransferase 5 gene (FUT5) in a Chinese Han population.</p><p><b>METHODS</b>The whole coding region of the FUT5 gene was amplified and sequenced in a total of 30 unrelated Chinese Han individuals. The PCR products containing the nucleotide variants observed in the study were subcloned into plasmid pcDNA to determine all potential haplotypes in the investigated population. Genetic polymorphisms of C560T (rs778970) and C484A loci were further analyzed by polymerase chain reaction-restriction fragment length polymorphism(PCR-RLFP) method.</p><p><b>RESULTS</b>In addition to seven previously reported base substitutions, two novel polymorphisms, namely C484A (Leu162Met) and T684C, were found in the coding region of the FUT5 gene in the 30 individuals. Seven haplotypes were identified by subcloning the variants into plasmid and subsequent DNA sequencing. The allele frequencies in the rs778970 locus in 160 Chinese Han individuals was 0.3031 for 560C and 0.6969 for 560T, while no polymorphism was detected in the C484A locus.</p><p><b>CONCLUSION</b>The sequence of the coding region in the human FUT5 gene demonstrated high genetic diversity, and the allelic distribution of the rs778970 locus in the Chinese populations is polymorphic.</p>