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KMID : 0387720070180030138
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Korean Journal of Blood Transfusion
2007 Volume.18 No. 3 p.138 ~ p.144
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Determination of the RhC/c Blood Group by Polymerase Chain Reaction with Sequence-specific Primers of the Intron 2 Insert of the RHCE Gene.
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Park Chul-Min
Park Kyoung-Un
Song Jung-Han
Heo Se-Ran
Han Kyou-Sup
Jin Sun-Kyung
Chang Ho-Eun
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Abstract
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Background: RhC/c blood group antigens are of clinical importance and molecular genotyping for them can be useful when serological typing is difficult. A method to determine the RhC/c genotype, by targeting exon 1 nt48 and exon 2 nt307, has been used. However, this approach is not accurate for the RHc(cyt48) variant allele. We applied a more accurate genotyping method, using the intron 2 109 bp insert of the RHCE gene, and evaluated its performance in comparison with the standard method.
Methods: RhD and RhC/c serotypes of 236 subjects were determined. We compared two genotype results with the serological phenotype. One method examined the allele-specific exon 1 nt48 and exon 2 nt307 polymorphism area (Method 1), while the other method detected the intron 2 insert instead of the exon 1 nt48 (Method 2) by polymerase chain reaction with sequence-specific primers (PCR-SSP).
Results: The predicted phenotypes by Method 1 were not matched with the true phenotypes in 24 cases (24/236, 10.2%). By contrast, the predicted results by Method 2 matched with true phenotypes in all cases except one. The RHc(cyt48) variant was suspected in 22 cases (23.7%) of the 93 Rhc cases.
Conclusion: For the determination of the RhC/c genotype in Koreans, the method that analyzes exon 1 nt48 is inaccurate. Instead, intron 2 insert analysis with exon 2 nt307 by PCR-SSP appears to be a more accurate alternative.
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KEYWORD
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RHCE, Genotype, RhC/c, PCR-SSP
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