[副孟买血型新型FUT1等位基因的鉴定]

[Identification of a novel FUT1 allele of para-Bombay phenotype].

作者信息

Yu Lu, He Yunlei, Xu Deyi, Guo Wenyu, Deng Gang

机构信息

Central Blood Station of Ningbo, Zhejiang 315010, China. Email:

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):636-638. doi: 10.3760/cma.j.issn.1003-9406.2019.06.027.

DOI:10.3760/cma.j.issn.1003-9406.2019.06.027

PMID:31055825

Abstract

OBJECTIVE

To explore the molecular basis for an individual with para-Bombay phenotype of the H blood group.

METHODS

Intron 5 to 3'-UTR of the ABO gene and exon 4 of the FUT1 gene were amplified with PCR and subjected to direct sequencing. Mutations of the FUT1 gene were identified by TOPO cloning sequencing.

RESULTS

Direct sequencing showed that her ABO genotype was B101/O01. TOPO cloning sequencing found that this individual had three mutations of the FUT1 gene, including an heterozygous AG deletion (CAGAGAG→CAGAG) at position 547 to 552, and two C→T mutations at positions 35 (C35T) and 293 (C293T) on the other homologous chromosome. The two alleles comprised a new recombination of mutations c.35T>C and c.293C>T, and the sequence has been submitted to NCBI (No. MG597611).

CONCLUSION

A novel combination of FUT1 alleles with c.35 C>T and c.293C>T has been identified in an individual with para-Bombay phenotype.

摘要

目的

探究一例具有H血型类孟买表型个体的分子基础。

方法

采用聚合酶链反应（PCR）扩增ABO基因的第5内含子至3'-非翻译区（UTR）以及FUT1基因的第4外显子，并进行直接测序。通过TOPO克隆测序鉴定FUT1基因的突变。

结果

直接测序显示其ABO基因型为B101/O01。TOPO克隆测序发现该个体的FUT1基因存在三个突变，包括在547至552位的杂合AG缺失（CAGAGAG→CAGAG），以及在另一条同源染色体上35位（C35T）和293位（C293T）的两个C→T突变。这两个等位基因构成了新的c.35T>C和c.293C>T突变重组，该序列已提交至美国国立生物技术信息中心（NCBI，编号：MG597611）。