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Six Years' Experience Performing ABO Genotyping by PCR-direct Sequencing
PCRㆍ직접염기서열분석법에 의한 ABO 유전형검사 6년 경험
The Korean Society of Blood Transfusion 2012;23:236−247
Published online December 30, 2012
© 2012 The Korean Society of Blood Transfusion.

Eun Jeong Won, Duck Cho, Min Seok Heo, Hye Ryoen Park, Myung Geun Shin, Dong Wook Ryang
원은정ㆍ조덕ㆍ허민석ㆍ박혜련ㆍ신명근ㆍ양동욱
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Background:ABO genotyping is essential for resolving ABO grouping discrepancy and for determinating ABO subgroups. Most clinical samples, including suspected inherited subgroups and acquired variant phenotypes, can be determined by PCR-sequencing of exons 6 and 7 in the ABO gene. Here, we describe our six years' experience performing ABO genotyping by PCR-direct sequencing.
Methods:We conducted a retrospective investigation of serological and genotypical data from 205 samples (158 patients and 47 of their family members) of patients who were referred to the Molecular Genetics Laboratory at Chonnam National University Hwasun Hospital for ABO genotyping between January 2007 and July 2012. ABO genotyping was performed on all samples with PCR-direct sequencing of exons 6 and 7 in the ABO gene; the standard serologic tests were also performed.
Results:The frequency of phenotypes consistent with their genotypes was 70.8% (112/158 cases) and the A2B3 phenotype with the cis-AB01 allele was the most common (31.0%, 49 cases) among them. The frequency of phenotypes inconsistent with their genotypes was 29.1% (46/158 cases) and the A1B3 phenotype was the most frequently recovered case (5.1%, 8 cases). Family study showed differential phenotype expression depending on the co-inherited ABO allele in five families with the B306, cis-AB01, Ael02, Aw14, or B305 allele and also showed a typical inheritance of a chimera with A102/B101/O04.
Conclusion:We propose that ABO genotyping using PCR-direct sequencing is useful for the resolution of ABO discrepancies and for the investigation of ABO subgroups based on six years' experience. In addition, family study for analysis of phenotypic patterns of ABO subgroups is also crucial to ABO genotyping. (Korean J Blood Transfus 2012;23: 0-247)
Keywords : ABO genotyping, PCR-direct sequencing, ABO discrepancies, ABO subgroups, Family study

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