Molecular genetic analysis for the Ae1 and A3 alleles

Chien Feng Sun; Lung Chih Yu; Ding Ping Chen; Ming Lun Chou; Yuh Ching Twu; Wei Ting Wang; Marie Lin

doi:10.1046/j.1537-2995.2003.00500.x

Molecular genetic analysis for the A^e1 and A³ alleles

Chien Feng Sun, Lung Chih Yu, Ding Ping Chen, Ming Lun Chou, Yuh Ching Twu, Wei Ting Wang, Marie Lin^*

^*Corresponding author for this work

Department of Pathology

Mackay Memorial Hospital Taiwan

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

28 Scopus citations

Abstract

BACKGROUND: In addition to the common ABO phenotypes, numerous phenotypes with a weak expression of the A or B antigens on RBCs have been found. This study describes the molecular genetic analysis of the A_el and the A₃ phenotypes. STUDY DESIGN AND METHODS: The seven-exon regions of the ABO genes of A_el and A₃B individuals were amplified by PCR and cloned, and the sequences of the exons and their adjacent splice sites were analyzed. Samples from 30 randomly selected A₁ individuals were also assessed. RESULTS: The A gene with wild-type coding sequence was demonstrated in the A_el propositus, but all the six unrelated Taiwanese people with the A_el or A_elB phenotype were shown to possess an A allele with the G→A mutation at the +5 position of intron 6 (IVS6+5G→A). RT-PCR analysis showed that the complete A transcript structure was absent in the A_el RNA samples. The A ₃B individual possessed an A gene with an 838C→T missense mutation. CONCLUSION: The results suggest an association of the A ^el*IVS6+5G→A allele with the A_el phenotype in Taiwanese people. The mechanism defining how the A ^el*IVS6+5G→A allele leads to the A_el phenotype awaits elucidation.

Original language	English
Pages (from-to)	1138-1144
Number of pages	7
Journal	Transfusion
Volume	43
Issue number	8
DOIs	https://doi.org/10.1046/j.1537-2995.2003.00500.x
State	Published - 01 08 2003

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@article{748155f01f8b404db1272103015ada48,

title = "Molecular genetic analysis for the Ae1 and A3 alleles",

abstract = "BACKGROUND: In addition to the common ABO phenotypes, numerous phenotypes with a weak expression of the A or B antigens on RBCs have been found. This study describes the molecular genetic analysis of the Ael and the A3 phenotypes. STUDY DESIGN AND METHODS: The seven-exon regions of the ABO genes of Ael and A3B individuals were amplified by PCR and cloned, and the sequences of the exons and their adjacent splice sites were analyzed. Samples from 30 randomly selected A1 individuals were also assessed. RESULTS: The A gene with wild-type coding sequence was demonstrated in the Ael propositus, but all the six unrelated Taiwanese people with the Ael or AelB phenotype were shown to possess an A allele with the G→A mutation at the +5 position of intron 6 (IVS6+5G→A). RT-PCR analysis showed that the complete A transcript structure was absent in the Ael RNA samples. The A 3B individual possessed an A gene with an 838C→T missense mutation. CONCLUSION: The results suggest an association of the A el*IVS6+5G→A allele with the Ael phenotype in Taiwanese people. The mechanism defining how the A el*IVS6+5G→A allele leads to the Ael phenotype awaits elucidation.",

author = "Sun, {Chien Feng} and Yu, {Lung Chih} and Chen, {Ding Ping} and Chou, {Ming Lun} and Twu, {Yuh Ching} and Wang, {Wei Ting} and Marie Lin",

year = "2003",

month = aug,

day = "1",

doi = "10.1046/j.1537-2995.2003.00500.x",

language = "英语",

volume = "43",

pages = "1138--1144",

journal = "Transfusion",

issn = "0041-1132",

publisher = "John Wiley and Sons Inc",

number = "8",

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TY - JOUR

T1 - Molecular genetic analysis for the Ae1 and A3 alleles

AU - Sun, Chien Feng

AU - Yu, Lung Chih

AU - Chen, Ding Ping

AU - Chou, Ming Lun

AU - Twu, Yuh Ching

AU - Wang, Wei Ting

AU - Lin, Marie

PY - 2003/8/1

Y1 - 2003/8/1

N2 - BACKGROUND: In addition to the common ABO phenotypes, numerous phenotypes with a weak expression of the A or B antigens on RBCs have been found. This study describes the molecular genetic analysis of the Ael and the A3 phenotypes. STUDY DESIGN AND METHODS: The seven-exon regions of the ABO genes of Ael and A3B individuals were amplified by PCR and cloned, and the sequences of the exons and their adjacent splice sites were analyzed. Samples from 30 randomly selected A1 individuals were also assessed. RESULTS: The A gene with wild-type coding sequence was demonstrated in the Ael propositus, but all the six unrelated Taiwanese people with the Ael or AelB phenotype were shown to possess an A allele with the G→A mutation at the +5 position of intron 6 (IVS6+5G→A). RT-PCR analysis showed that the complete A transcript structure was absent in the Ael RNA samples. The A 3B individual possessed an A gene with an 838C→T missense mutation. CONCLUSION: The results suggest an association of the A el*IVS6+5G→A allele with the Ael phenotype in Taiwanese people. The mechanism defining how the A el*IVS6+5G→A allele leads to the Ael phenotype awaits elucidation.

AB - BACKGROUND: In addition to the common ABO phenotypes, numerous phenotypes with a weak expression of the A or B antigens on RBCs have been found. This study describes the molecular genetic analysis of the Ael and the A3 phenotypes. STUDY DESIGN AND METHODS: The seven-exon regions of the ABO genes of Ael and A3B individuals were amplified by PCR and cloned, and the sequences of the exons and their adjacent splice sites were analyzed. Samples from 30 randomly selected A1 individuals were also assessed. RESULTS: The A gene with wild-type coding sequence was demonstrated in the Ael propositus, but all the six unrelated Taiwanese people with the Ael or AelB phenotype were shown to possess an A allele with the G→A mutation at the +5 position of intron 6 (IVS6+5G→A). RT-PCR analysis showed that the complete A transcript structure was absent in the Ael RNA samples. The A 3B individual possessed an A gene with an 838C→T missense mutation. CONCLUSION: The results suggest an association of the A el*IVS6+5G→A allele with the Ael phenotype in Taiwanese people. The mechanism defining how the A el*IVS6+5G→A allele leads to the Ael phenotype awaits elucidation.

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DO - 10.1046/j.1537-2995.2003.00500.x

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AN - SCOPUS:0042430578

SN - 0041-1132

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JO - Transfusion

JF - Transfusion

IS - 8

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Molecular genetic analysis for the A^e1 and A³ alleles

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