Study On Characters Of Genetic Structure And Inheritance Of Rh Blood Group

Objective:To investigate the exon,intron,insert and Rh Box of RhC/E,D gene in unrelated Han nationality individuals and pedigrees whose proband were Rh D-negative of Han and Wei nationality in China. To study on structure and inheritance of Rh D gene interaction between gene expression of Rh D and Rh C/E and influences on Rh D gene expression of inserts and Rh Box-Methods:20 pairs of oligonucleotide specific primers for exon,intron 2 4,insert and Rh Box of Rh D,RhC/E gene were designed and composed The polymerase chain reaction-sequence specific oligonucleotide primer (PCR-SSP) was used to amplify the Rh C/E gene,Rh D gene,exon,intron,insert and Rh Box in 106 samples of unrelated individuals and 7 Han nationality ancestries and 5 Wei nationality ancestries whose proband were Rh D-negative.Results:Phenotype frequency of Rh C and Rh E in individuals with Rh D negative were 25% and 3% respectively. (2)Rh D genes of Rh D-negative individuals with C antigens have polymorphism. In 82 cases of Rh D serology negative individuals with Rh C/E typing for CC or Cc was 20,of which 9 carried intact exons,6 carried partial deletion exons,and 5 was total deletion.(3)Inseit fragments and Rh Box were detected in most of cases in 7 Han nationality pedigrees which proband were Rh D-negative,and intheritance accorded with the Mendel's law. The individuals of RhD-positive phenotype with intact exons carried generally insert fragments and Boxl Box2 and Box3 and this proved that inserts or Rh Box couldn't affect the express of Rh D gene.In 2 of the 5 Wei nationality pedigrees whose proband were Rh D-negative,RhC/E phenotype of all the Rh negative individuals was ccee. RhD exon 4nsert and Rh Box did not be found in all individuals. The other pedigrees were similar to Han nationality pedigrees. (5) "Normal" Rh D exon #4 amplifying product did not be found in all the samples,instead of 37bp insert. Conclusion:Most of C/E phenotype in Rh D-negative individuals of Chinesewere ccee (72%). (2) Gene structure of the Rh D-negative in Chinese havepolymorphism,especially in the individuals with C antigen,which accorded with the oriental character. D gene exon of Chinese polymorphism expressed for intact,partial deletion and total deletion,and probably existed specific D(nf)Ce haplotype. The polymorphism of Rh D gene structure of Han nationality of Chinese was significantly different from Caucasian and Wei nationality characteristic. The relation of insert and segment and Rh Box with the expression of Rh D gene was uncertain in our research. This inherited characteristic was different from Caucasian. All Dv amplifying products were 37bp type insert,which meanings was uncertain. Biological rule of inserts and Rh Box needs farther research.Our research showed that gene sequences of the Oriental were different from that of Caucasian. Designing primers according to Rh DNA sequence derived from Caucasian could not discover the influence factors of Rh D gene expression and inheritance characteristics. It's imperative to establish the Rh gene library based on Han nationality corresponding primer designing and gene typing method suitable for Chinese.