RHC genotyping in Chinese Han population.

Area of Science:

• Genetics
• Immunology
• Molecular Biology

Background:

• The Rh blood group system is complex, with 56 antigens, making Rh C antigen prediction challenging.
• Accurate Rh C genotyping is crucial for transfusion medicine and understanding blood group polymorphism.

Purpose of the Study:

• Evaluate the accuracy of various genotyping methods for Rh C antigen prediction.
• Identify the most suitable Rh C genotyping method for the Chinese Han population.

Main Methods:

• Real-time PCR was used to detect 48C and 109bp insertion for Rh C genotyping.
• Restriction fragment length polymorphism (RFLP) analyzed the -292 substitution.
• Sequencing of the RHCE gene promoter identified other nucleotide substitutions.
• Kappa statistic and chi-squared tests evaluated method agreement and comparisons.

Main Results:

• The 109bp insertion method achieved 99.4% accuracy in predicting Rh C, outperforming other tested methods.
• Alleles 48C, RFLP patterns, and seven single nucleotide polymorphisms (SNPs) showed strong agreement (Kappa > 0.8) but lower accuracy.
• The 109bp insertion had a low false negative rate (0.6%), while other methods had higher false positive rates (5.4-8.2%).

Conclusions:

• No single method can independently and accurately predict the Rh C antigen.
• The 109bp insertion test is the most accurate method for Rh C prediction in the Chinese Han population.
• Combining the 109bp insertion test with other methods could enhance overall Rh C prediction accuracy.