Systematic sequence analysis of the human fucosyltransferase 2 (FUT2) gene identifies novel sequence variations and alleles.
BACKGROUND
The FUT2 gene regulates the expression of ABH antigens in body secretions and hence controls the secretor status. It is highly polymorphic.


METHODS
Healthy Chinese (n = 79) and Caucasian (n = 20) subjects were recruited for this study. Lewis blood group and secretor status were determined. The entire FUT2 coding region was amplified and screened for sequence variations by single-strand conformation polymorphism analysis under four different conditions to ensure comprehensive detection, and representative samples with distinct banding patterns were characterized by DNA sequencing. The haplotypes of novel alleles were determined by sequencing of cloned inserts.


RESULTS
Seventeen single-nucleotide polymorphisms and one 3-base duplicating insertion were identified. Six novel FUT2 alleles each found in a heterozygous individual were defined by six novel sequence variations: 210A>G (T70T), 380G>A (R127H), 572G>A (R191Q), 748_750dupGTG (V250dup), 853G>A (A285T), and 855A>C (A285A). The three most common alleles were Se, Se(357), and Se(357,385) in Chinese persons (total frequency, 94%) and se(428), Se(357), and Se in Caucasian persons (total frequency, 85%). The FUT2 genotypes correlated with Lewis phenotypes and secretor status.


CONCLUSIONS
This study identified 18 sequence variations in the FUT2 gene, and 6 were novel. The frequencies of alleles and genotypes were also determined in Chinese and Caucasian persons.
Yip
Shea Ping
SP
Department of Health Technology and Informatics and School of Nursing, Faculty of Health and Social Sciences, The Hong Kong Polytechnic University, Hung Hom, Kowloon, Hong Kong SAR, China. shea.ping.yip@polyu.edu.hk
Lai
Siu Kin
SK
Wong
Maria L
ML
D000483:Alleles; D000595:Amino Acid Sequence; D044466:Asian People; D001483:Base Sequence; D005647:Fucosyltransferases / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D007983:Lewis Blood Group Antigens; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA; D044465:White People; D000097631:Galactoside 2-alpha-L-fucosyltransferase
D005647:Fucosyltransferases; D007983:Lewis Blood Group Antigens; D000097631:Galactoside 2-alpha-L-fucosyltransferase