Serological Characteristics and DNA Sequence Analysis of Patients with RhD Variant
Objective To investigate the serological characteristics and DNA sequence of patients with RhD variant.Methods The ABO and RhD blood groups of the patients to be transfused were determined using the microcolumn gel method.The specimens showing weakened or negative RhD antigen reactions were further evaluated using the saline test tube method and RhD negative confirmation test.Additionally,DNA sequence detection was performed in the identified D-variant samples.Results A total of 8 cases of D variant were detected in 726 patients with decreased RhD antigen and negative samples by RhD negative confirmation test.A total of 7 genotypes were detected by DNA sequencing in the 8 samples,include RHD*01W.72/RHD*01N.01,RHD*15/RHD*D-CE(2)-D,RHD*01EL.01/RHD*15,RHD*D-CE(3-9)-D/RHD*01N.01,RHD*15/RHD *01N.01,RHD-496G/RHD*01N.01,and RHD*01EL.01/RHD*01W.71.Two cases of RHD*15/RHD*01N.01 were of weak D type 15.1 case of RHD*01W.72/RHD*01N.01 was weak D type 72;Two cases of RhD and RhCE gene recombination were RHD*15/RHD*D-CE(2)-D and RHD*D-CE(3-9)-D/RHD*01N.01,respectively.1 case of RHD-496G/RHD*01N.01 with c.496C＞G mutant was a new RHD mutation site,and the application for confirmation was submitted to GenBank database.Three cases had mutations in both gametic genes,of which two were new combinations:RHD*15/RHD*D-CE(2)-D and RHD*01EL.01/RHD*01W.71.RhCE phenotype was detected in 6 samples,5 samples of which contained C antigen,accounting for 83.3%,The majority of cases were Ccee phenotype(3 cases,50%).Conclusion Serological detection combined with DNA sequencing can help to discover phenotype and genotype characteristics of blood group,and provide reference for understanding RhD variants and clinical transfusion.
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