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Two hybrid alleles between the secretor type α(1,2)fucosyltransferase gene (FUT2) and a pseudogene of FUT2 (SEC1) have been reported so far; parts of the SEC1 and FUT2 sequences are suggested to be susceptible to recombination. The se(fus), one of the two hybrid alleles, is found in Japanese populations at relative high frequencies. A TaqMan assay to distinguish SEC1 and SEC1-FUT2 hybrid alleles was designed for the purpose of dealing with large number of samples. The results of the present method were fully consistent with those of the previous method for detection of se(fus) in the Japanese population. In addition, a novel SEC1-FUT2-SEC1 hybrid allele, which contains a 35-bp sequence (between positions 418 and 452) that is identical to the FUT2 sequence including a 13-bp FUT2-specific region (between positions 436 and 448), was encountered in an individual of European descent. The present TaqMan assay is a reliable and powerful method for the large scale association study between disease susceptibility and FUT2 genotypes especially in the Japanese populations because of relative high frequency of se(fus). In addition, this method is a useful tool to find novel SEC1-FUT2 hybrid alleles. Copyright © 2012 Elsevier B.V. All rights reserved.

Citation

Mikiko Soejima, Yoshiro Koda. TaqMan real-time polymerase chain reaction for detection of SEC1-FUT2 hybrid alleles: identification of novel hybrid allele. Clinica chimica acta; international journal of clinical chemistry. 2013 Jan 16;415:59-62

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PMID: 22959923

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