对 9 例具有 Para-Bombay 表型的中国人的α-(1, 2)-岩藻糖基转移酶基因进行序列分析。

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

机构信息

Blood Transfusion Department, The Second Affiliated Hospital and Yu Ying Children's Hospital of Wenzhou Medical University, 325027 Zhejiang, China.

Central Blood Station of Wenzhou, No.41 Xincheng Dadao, 325000 Zhejiang, China.

出版信息

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

DOI:10.1016/j.gene.2018.09.017

PMID:30217757

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.

摘要

背景

分析 9 例 Para-Bombay 表型个体的 α-(1,2)-岩藻糖基转移酶基因（FUT1）序列。

方法

根据血清学特征和 ABO 基因型定义 Para-Bombay 表型。扩增 FUT1 的全长编码区，直接和 TOPO 克隆测序分析基因型和单倍型，用于区分 FUT1 的杂合突变。

结果

根据血清学特征和 ABO 基因型，这 9 例个体被鉴定为 3 例 Para-Bombay A（Ah）和 6 例 Para-Bombay B（Bh）。根据 FUT1 全长编码区的直接和克隆测序结果，在这 9 例个体中发现了 5 种基因型和 5 种单倍型。

结论

发现了两种复杂的 FUT1 突变，分别为 h1h547⁻552delAG⁺814A⁾G（c.547⁻552delAG，p.Arg183Argfs⁻⁸⁶；c.547⁻552delAG，p.Arg183Argfs⁻⁸⁶⁺c.814A⁾G，p.lle272Val）和 h755G⁾Ch547⁻552delAG⁺755G⁾C（c.755G⁾C，p.Arg183Argfs⁻⁸⁶；c.547⁻548delAG，p.Arg183Argfs⁻⁸⁶⁺c.755G⁾C，p.Arg253Pro），h755G⁾Ch547⁻552delAG⁺755G⁾C 基因型为首次报道，本研究还在 9 例中国 Para-Bombay 表型个体中发现了 3 种已知基因型（h1h1、h3h3、h1h3）。这样，FUT1 突变表现出明显的地理和种族范围。