Systematic sequence analysis of the human fucosyltransferase 2 (FUT2) gene identifies novel sequence variations and alleles.

Abstract:

BACKGROUND:The FUT2 gene regulates the expression of ABH antigens in body secretions and hence controls the secretor status. It is highly polymorphic. STUDY DESIGN AND 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. CONCLUSION: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.

journal_name

Transfusion

journal_title

Transfusion

authors

Yip SP,Lai SK,Wong ML

doi

10.1111/j.1537-2995.2007.01280.x

subject

Has Abstract

pub_date

2007-08-01 00:00:00

pages

1369-80

issue

8

eissn

0041-1132

issn

1537-2995

pii

TRF01280

journal_volume

47

pub_type

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