A unique 502C>T mutation in exon 7 of ABO gene associated with the B

P.-H. Lin; L. Li; S.-J. Lin-Tsai; K.-T. Lin; J.-M. Chen; Da-Chang Chu

doi:10.1046/j.1537-2995.2003.00494.x

A unique 502C>T mutation in exon 7 of ABO gene associated with the B

P.-H. Lin, L. Li, S.-J. Lin-Tsai, K.-T. Lin, J.-M. Chen, Da-Chang Chu

Department of Medical Biotechnology and Laboratory Science

Research output: Contribution to journal › Journal Article › peer-review

15 Citations (SciVal)

Abstract

BACKGROUND: The ABO system includes many variant subgroups. Some of them are difficult to identify serologically, leading to mistyping of blood groups. For example, B<inf>el</inf> is often typed as O blood group. STUDY DESIGN AND METHODS: DNA sequencing and a molecular approach were explored to accurately determine the genotypes of B<inf>el</inf> subgroups. Seven B<inf>el</inf> blood donors and 106 individuals with other blood groups were analyzed serologically and molecularly. RESULTS: The serologic results of these seven B<inf>el</inf> blood donors showed that their RBCs do not react with anti-B or anti-A,B, and their B antigen was detected by adsorption and elution methods. Sequencing results for exons 6 and 7 of ABO genes showed a new B<inf>el</inf> allele with a C>T substitution at nucleotide position 502 in exon 7 of the ABO gene in all seven cases but not in other blood groups. Consequently, an amplification-created restriction site protocol was designed to detect the 502C>T genotype in B<inf>el</inf> subgroup cases. CONCLUSION: A novel 502C>T mutation was found in the B<inf>el</inf> subgroup in Taiwan and successfully developed a rapid and accurate molecular protocol to detect this mutation. To our knowledge, the new B<inf>el</inf> allele that was found is unique in Taiwanese residents.

Original language	American English
Pages (from-to)	1254-1259
Journal	Transfusion
Volume	43
Issue number	9
DOIs	https://doi.org/10.1046/j.1537-2995.2003.00494.x
State	Published - 2003

Keywords

Immunology and Microbiology
Medicine

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10.1046/j.1537-2995.2003.00494.x

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@article{a18ff1a1d83f475eb0eb3de15cffa0c0,

title = "A unique 502C>T mutation in exon 7 of ABO gene associated with the B",

abstract = "BACKGROUND: The ABO system includes many variant subgroups. Some of them are difficult to identify serologically, leading to mistyping of blood groups. For example, Bel is often typed as O blood group. STUDY DESIGN AND METHODS: DNA sequencing and a molecular approach were explored to accurately determine the genotypes of Bel subgroups. Seven Bel blood donors and 106 individuals with other blood groups were analyzed serologically and molecularly. RESULTS: The serologic results of these seven Bel blood donors showed that their RBCs do not react with anti-B or anti-A,B, and their B antigen was detected by adsorption and elution methods. Sequencing results for exons 6 and 7 of ABO genes showed a new Bel allele with a C>T substitution at nucleotide position 502 in exon 7 of the ABO gene in all seven cases but not in other blood groups. Consequently, an amplification-created restriction site protocol was designed to detect the 502C>T genotype in Bel subgroup cases. CONCLUSION: A novel 502C>T mutation was found in the Bel subgroup in Taiwan and successfully developed a rapid and accurate molecular protocol to detect this mutation. To our knowledge, the new Bel allele that was found is unique in Taiwanese residents.",

keywords = "Immunology and Microbiology, Medicine",

author = "P.-H. Lin and L. Li and S.-J. Lin-Tsai and K.-T. Lin and J.-M. Chen and Da-Chang Chu",

year = "2003",

doi = "10.1046/j.1537-2995.2003.00494.x",

language = "American English",

volume = "43",

pages = "1254--1259",

journal = "Transfusion",

issn = "0041-1132",

publisher = "John Wiley and Sons Inc",

number = "9",

}

TY - JOUR

T1 - A unique 502C>T mutation in exon 7 of ABO gene associated with the B

AU - Lin, P.-H.

AU - Li, L.

AU - Lin-Tsai, S.-J.

AU - Lin, K.-T.

AU - Chen, J.-M.

AU - Chu, Da-Chang

PY - 2003

Y1 - 2003

N2 - BACKGROUND: The ABO system includes many variant subgroups. Some of them are difficult to identify serologically, leading to mistyping of blood groups. For example, Bel is often typed as O blood group. STUDY DESIGN AND METHODS: DNA sequencing and a molecular approach were explored to accurately determine the genotypes of Bel subgroups. Seven Bel blood donors and 106 individuals with other blood groups were analyzed serologically and molecularly. RESULTS: The serologic results of these seven Bel blood donors showed that their RBCs do not react with anti-B or anti-A,B, and their B antigen was detected by adsorption and elution methods. Sequencing results for exons 6 and 7 of ABO genes showed a new Bel allele with a C>T substitution at nucleotide position 502 in exon 7 of the ABO gene in all seven cases but not in other blood groups. Consequently, an amplification-created restriction site protocol was designed to detect the 502C>T genotype in Bel subgroup cases. CONCLUSION: A novel 502C>T mutation was found in the Bel subgroup in Taiwan and successfully developed a rapid and accurate molecular protocol to detect this mutation. To our knowledge, the new Bel allele that was found is unique in Taiwanese residents.

AB - BACKGROUND: The ABO system includes many variant subgroups. Some of them are difficult to identify serologically, leading to mistyping of blood groups. For example, Bel is often typed as O blood group. STUDY DESIGN AND METHODS: DNA sequencing and a molecular approach were explored to accurately determine the genotypes of Bel subgroups. Seven Bel blood donors and 106 individuals with other blood groups were analyzed serologically and molecularly. RESULTS: The serologic results of these seven Bel blood donors showed that their RBCs do not react with anti-B or anti-A,B, and their B antigen was detected by adsorption and elution methods. Sequencing results for exons 6 and 7 of ABO genes showed a new Bel allele with a C>T substitution at nucleotide position 502 in exon 7 of the ABO gene in all seven cases but not in other blood groups. Consequently, an amplification-created restriction site protocol was designed to detect the 502C>T genotype in Bel subgroup cases. CONCLUSION: A novel 502C>T mutation was found in the Bel subgroup in Taiwan and successfully developed a rapid and accurate molecular protocol to detect this mutation. To our knowledge, the new Bel allele that was found is unique in Taiwanese residents.

KW - Immunology and Microbiology

KW - Medicine

U2 - 10.1046/j.1537-2995.2003.00494.x

DO - 10.1046/j.1537-2995.2003.00494.x

M3 - Journal Article

SN - 0041-1132

VL - 43

SP - 1254

EP - 1259

JO - Transfusion

JF - Transfusion

IS - 9

ER -

A unique 502C>T mutation in exon 7 of ABO gene associated with the B

Abstract

Keywords

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