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Vox Sanguinis
Article . 2002 . Peer-reviewed
License: Wiley Online Library User Agreement
Data sources: Crossref
Vox Sanguinis
Article . 2003
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Molecular genetic analysis of para‐Bombay phenotypes in Chinese: a novel non‐functional FUT1 allele is identified

Authors: Py Y. Chan; Ky Y. Chee; Ky Y. Chee; Sp P. Yip; Hf F. Wong; Eyd Y. D. Chow;

Molecular genetic analysis of para‐Bombay phenotypes in Chinese: a novel non‐functional FUT1 allele is identified

Abstract

Background and Objectives The para‐Bombay phenotype (also known as H‐deficient secretor) is characterized by a lack of ABH antigens on red cells, but ABH substances are found in saliva. Molecular genetic analysis was performed for five Chinese individuals serologically typed as para‐Bombay.Materials and Methods ABO genotyping and mutational analysis of both FUT1 (or H) and FUT2 (or Se) loci were performed for these individuals using the polymerase chain reaction, single‐strand conformation polymorphism analysis and direct DNA sequencing.Results The ABO genotypes of these para‐Bombay individuals correlated with the types of ABH substances found in the saliva. Their FUT1 genotypes were h1h2 (three individuals), h2h2 (one individual) and h2h6 (one individual). Alleles h1 (547–552delAG) and h2 (880–882delTT) were known frameshift mutations, while h6 (522C > A) was a missense mutation (Phe174Leu) not previously reported. These three mutations were rare sequence variations, each with an allele frequency of less than 0·005. Phe174 might be functionally important because this residue is conserved from mouse to human. Their FUT2 genotypes were Se357se357,385 for the h2h6 individual and Se357Se357 for the others. Both FUT2 alleles were known: one functional (Se357) and one weakly functional (se357,385). That they carried at least one copy of a functional FUT2 allele was consistent with their secretor status. As FUT1 and FUT2 are adjacent on 19q13·3, there are three possible haplotypes in these para‐Bombay individuals: h1‐Se357; h2‐Se357; and h6‐se357,385.Conclusions A novel non‐functional FUT1 allele (522C > A, or Phe174Leu) was identified in a para‐Bombay individual and on a se357,385 haplotype background.

Related Organizations
Keywords

China, Genotype, Galactoside 2-alpha-L-fucosyltransferase, DNA Mutational Analysis, Mutation, Missense, Fucosyltransferases, ABO Blood-Group System, Phenotype, Haplotypes, Humans, Female, Frameshift Mutation, Alleles

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
23
Average
Top 10%
Average