A familial case of ABO phenotype-genotype discrepancy.

Akiko Tsuji, Masayuki Seitoku, Naomi Sameshima, Yosuke Usumoto, Keiko Kudo, Noriaki Ikeda

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

In the present study, we detected a familial case of ABO phenotype-genotype discrepancy. Although the observed phenotypes were B and O, the corresponding ABO genotypes were AB and AOG, respectively, by routine examination. Exons 6 and 7 of the ABO gene were sequenced and subsequently, the sequence of the allele responsible for ABO phenotype-genotype discrepancy was examined. Our results indicated that the Ax allele was present in 3 family members. By employing traditional serological methods, we further identified and confirmed that the allele Ax and the resulting Ax phenotype are responsible for ABO phenotype-genotype discrepancy.

Original languageEnglish
Pages (from-to)40-45
Number of pages6
JournalUnknown Journal
Volume104
Issue number2
Publication statusPublished - Jan 1 2013

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Genotype
Phenotype
Alleles
Exons
Genes

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Tsuji, A., Seitoku, M., Sameshima, N., Usumoto, Y., Kudo, K., & Ikeda, N. (2013). A familial case of ABO phenotype-genotype discrepancy. Unknown Journal, 104(2), 40-45.

A familial case of ABO phenotype-genotype discrepancy. / Tsuji, Akiko; Seitoku, Masayuki; Sameshima, Naomi; Usumoto, Yosuke; Kudo, Keiko; Ikeda, Noriaki.

In: Unknown Journal, Vol. 104, No. 2, 01.01.2013, p. 40-45.

Research output: Contribution to journalArticle

Tsuji, A, Seitoku, M, Sameshima, N, Usumoto, Y, Kudo, K & Ikeda, N 2013, 'A familial case of ABO phenotype-genotype discrepancy.', Unknown Journal, vol. 104, no. 2, pp. 40-45.
Tsuji A, Seitoku M, Sameshima N, Usumoto Y, Kudo K, Ikeda N. A familial case of ABO phenotype-genotype discrepancy. Unknown Journal. 2013 Jan 1;104(2):40-45.
Tsuji, Akiko ; Seitoku, Masayuki ; Sameshima, Naomi ; Usumoto, Yosuke ; Kudo, Keiko ; Ikeda, Noriaki. / A familial case of ABO phenotype-genotype discrepancy. In: Unknown Journal. 2013 ; Vol. 104, No. 2. pp. 40-45.
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