ABSTRACT
OBJECTIVE@#To explore the molecular mechanism of a case where RhD genotyping did not match serological results.@*METHODS@#The serological results of 8 members from two generations of this family were analyzed. And according to Mendelian law of inheritance, RhD genotyping, zygotic type determination and gene sequencing were performed for the family members.@*RESULTS@#The proband and one of her cousins have the same RhD alleles, both of them have a 336-1G>A intron variant RhD allele and a complete RhD deletion allele. The variant alleles are inherited from two of their parents with blood relationship, while the complete-deleted alleles come from the other. 336-1G>A means that the last base G of the second intron of the RhD gene is mutated to A, which leads to a negative RhD serology and a positive genotype in the proband.@*CONCLUSION@#There was a rare 336-1G> A intron variant gene (RhD * 01N.25) in this family, which was a recessive gene relative to the RhD gene and resulted in RhD phenotype negative.
Subject(s)
Female , Humans , Alleles , Genotype , Introns/genetics , Pedigree , Phenotype , Rh-Hr Blood-Group System/geneticsABSTRACT
Objective Radiation can cause multiple damages to tissues and organs.This study aimed to explore the protec-tive effect of Ganoderma lucidum polysaccharides ( GLPs) against the 60 Co-γray radiation injury in mice and provide an experimental basis for the clinical use of GLPs. Methods One hundred mice were randomly divided into five groups of equal number: normal control, gavage control, radiation control, high-dose GLPs, and low-dose GLPs.Models of radiation injury were made in the mice by whole-body exposure to 60 Co-γrays.Three days before and after mod-eling, the animals in the high-dose and low-dose GLPs groups were given GLPs intragastrically at the dose of 100 and 50 mg/kg respec-tively, once daily for 14 days.Then the 30 day survival rate and sur-vival time of the model mice were recorded and the changes in the pe-ripheral blood index, spleen index, and serum superoxide dismutase( SOD) activity were observed. Results GLPs significantly increased the 30-day survival rate and the mean survival time of the mouse models (P<0.05), decreased the reduction of WBC count in the peripheral blood, and shortened the time of WBC restoration ( P<0.05 ) .Furthermore, GLPs obviously improved the spleen index and SOD activity of the Co-γray irradiated animals. Conclusion GLPs, with a significant anti-radiation effect, can effectively raise the survival rate of the mice exposed to a lethal dose of 60 Co-γrays, reduce radiation injury to WBC and platelets, and increase the activity of SOD in irradiated mice.