Abstract:

Objective   To elucidate the molecular background of RHD gene among RhD negative voluntary blood donors in Linyi district of Shandong province. Methods   A total of 24875 blood samples were collected in 2011. Genomic DNA from 111 RhD negative samples were analyzed by Sequence specific primer -polymerase chain reaction (SSPPCR) for three steps: ① to detect RHD-deleted RhD negative samples, DEL1227G＞A mutations and other variants; ② to identify the gene type of other variants; and ③ to perform sequencing procedure for the variants which had mutation sites but the gene type was unable to be identified. Results   The proportion of RhD negative blood donors was 0.45% among voluntary blood donation population in Linyi district. In 111 RhD negative samples, there were 76 with deletion of 1-10 exons, 9 with deletion of 2-9 exons, 3 with 845G>A mutation, 3 with deletion of 3-6 exons, 18 with 1227G>A mutation, and 1 with RHD(711DELC), 1 sample with DVa (Hus). Conclusion   There are RHD polymorphisms among RhD negative voluntary blood donors in Linyi district.

Key words: RhD negative； RHD gene； Mutation； Gene polymorphism； Sequence analysisRh