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Gene. 2019 Feb 15;685:21-23. doi: 10.1016/j.gene.2018.09.017. Epub 2018 Sep 12.

Sequence analysis of α-(1, 2)-fucosyltransferase gene in nine Chinese individuals with Para-Bombay phenotype.

Author information

1
Blood Transfusion Department, The Second Affiliated Hospital and Yu Ying Children's Hospital of Wenzhou Medical University, 325027 Zhejiang, China.
2
Central Blood Station of Wenzhou, No.41 Xincheng Dadao, 325000 Zhejiang, China.
3
Scientific Research Center, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, No.109 Xueyuan Road, 325027 Wenzhou, China. Electronic address: wxd@wzhealth.com.

Abstract

BACKGROUND:

To analyze the sequence of α-(1, 2)-fucosyltransferase gene (FUT1) in nine individuals with Para-Bombay phenotype.

METHODS:

Para-Bombay phenotype was defined according to the serologic characteristics and ABO genotypes. The full coding region of FUT1 was amplified, genotype and haplotype were analyzed by direct and TOPO cloning sequencing which was used to discriminate heterozygous mutations of FUT1.

RESULTS:

These nine individuals were identified as three Para-Bombay A (Ah), six Para-Bombay B (Bh) according to serologic characteristics and ABO genotypes. According to the direct and cloning sequencing results of the full coding region of FUT1, five genotypes and five haplotypes were found in these nine individuals.

CONCLUSION:

Two complex mutations of FUT1 were discovered, which were h1h547 - 552delAG + 814A > G (c.547 - 552delAG, p.Arg183Argfs ∗ 86; c.547 - 552delAG, p.Arg183Argfs ∗ 86 + c.814A > G, p.lle272Val) and h755G > Ch547 - 552delAG + 755G > C (c.755G > C, p.Arg183Argfs ∗ 86; c.547 - 548delAG, p.Arg183Argfs ∗ 86 + c.755G > C, p.Arg253Pro), the genotype of h755G > Ch547 - 552delAG + 755G > C was reported for the first time, and three kinds of known genotype (h1h1, h3h3, h1h3) were found also in these nine Chinese individuals with Para-Bombay phenotype in the present study. In this way, the FUT1 mutation showed a distinct geographic and ethnic range.

KEYWORDS:

FUT1 gene; Para-Bombay phenotype; α-(1, 2)-Fucosyltransferase

PMID:
30217757
DOI:
10.1016/j.gene.2018.09.017
[Indexed for MEDLINE]

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