RESUMO
Objective:To investigate the association between gene polymorphisms in vitamin D receptor(VDR) and Tourette syndrome (TS).Methods:The genetic contributions of VDR FokI (rs2228570), BsmI (rs1544410), and Cdx2 (rs11568820) polymorphisms were genotyped by TaqMan allelic discrimination real-time (RT)-PCR, which evaluated by a case-control analysis in 417 TS patients and 442 healthy controls, and followed by a family-based study in 417 TS trios.Chi-square test and relative risk analysis were conducted by IBM SPSS 23.0 software.Results:FokI (rs2228570) had three genotypes(CC=109, CT=235, TT=73); BsmI (rs1544410) had three genotypes(AA=2, AG=45, GG=370); Cdx2 (rs11568820) had three genotypes(AA=71, AG=200, GG=146). No significant difference in genotype ( χ2=5.516, P=0.063; χ2=3.466, P=0.177; χ2=0.561, P=0.755, respectively) or allele frequencies( χ2=0.840, P=0.359; χ2=3.376, P=0.066; χ2=0.051, P=0.822, respectively)of FokI, BsmI and Cdx2 were identified between TS patients and control groups.No significant over-transmission was identified for these three polymorphisms among 417 TS trios in the family-based study (TDT for FokI: χ2=0.009, P=0.962; for BsmI: χ2=1.220, P=0.320; and for Cdx2: χ2=0.260, P=0.646). Haplotype relative risk (HRR) analysis and haplotype-based haplotype relative risk (HHRR) analysis showed no significant difference in allele frequencies distribution of FokI, BsmI and Cdx2 (all P>0.05). Conclusion:VDR receptor gene polymorphism has no effect on TS susceptibility in the Chinese Han population. However, a potential role of VDR should be explored in more polymorphisms, different populations and larger samples.
RESUMO
【Objective】 To study the application of electronic crossmatching(E-XM) based on Rh typing aimed at reducing the production of alloantibodies in blood recipients. 【Methods】 A total of 22 528 RhD positive patients, admitted to our hospital from Jan 1, 2018 to Mar 31, 2020, required the specific transfusion of leukocyte-depleted suspension red blood cells. Among which, 21 334 reached the priority level Ⅰ and Ⅱ by E-XM and were set as the control group, and 1 194 reached the priority level Ⅲ and were set as the experimental group. ABO and Rh (D, C, c, E and e antigens) blood group systems were serologically tested both in blood recipients and donors, and Rh phenotype database was established based on the blood transfusion management system. The incidence of irregular antibodies against the exposure of new antigens involved with RBC transfusions in the control group and the experimental group was compared. 【Results】 The proportion of antigen C and e was significantly higher than that of c and E. The frequency of DCCee and DCcEe were the highest, while that of Dccee and DCCEE were extremely low. 85.2% and 9.5% of the patients reached priority level Ⅰ and Ⅱ, respectively, and only 5.3% reached priority level Ⅲ. 6 patients(less than 0.001%) in the control group (n=21 334), developed Rh system alloantibodies after blood transfusion, and 24 patients(2.01%) in the experimental group (n=1194) developed Rh alloantibodies against the exposure of antigens after blood transfusion. There were significant differences between the experimental group and the control group (P<0.01). 【Conclusion】 The application of E-XM could minimize the incidence of Rh irregular antibodies after RBC transfusion in patients, which contributes to the safety in clinical blood transfusion.