[Gene Sequencing Analysis of 5 Patients with D Variant in Guangxi -Attached 1 Case of D Variant with New Allele].

OBJECTIVE

To assist the identification of clinical D variants using genetic testing technology.

METHODS

Five blood samples of patients with Rh D blood group with weakly positive/negative serological manifestations received by the Blood Transfusion Department of the Guangxi Zhuang Autonomous Region People's Hospital from January 2022 to December 2023 were randomly collected, and all of them were subjected to genotyping by fluorescence PCR method and Sanger sequencing.

RESULTS

Genotyping by fluorescent PCR showed that 4 cases were RHD*01/RHD*01 and 1 case was RHD*01EL.01/RHD*01N.01. Further sequencing showed that all five samples were of the D variant, and a total of 7 genotypes of the D variant were detected in the 5 samples, namely RHD*01W.72， RHD*01EL.01， RHD*D-CE(2)-D， RHD*DV.5， RHD*DBS1， RHD*DFR2 and RHD-0502-new, among which RHD-0502-new detected a total of 14 mutation sites in exons 4 and 5, which is the first new combination of RHD mutation sites in China and abroad， a confirmation application has been submitted to the GenBank database.

CONCLUSION

The use of genetic testing technology combined with serological methods can accurately identify the patient's D variant, which is important for precise clinical transfusion and individualised perinatal management.