Identification of A Case of DEL Blood Group with DAT Positive Phenotype and Pedigree Analysis / 中国实验血液学杂志

OBJECTIVE@#To identify the blood group of a patient with DEL phenotype combined with positive direct anti-human globulin test and to analyze the pedigree.@*METHODS@#Routine serological reagents were used for serological analysis of RhD blood group in the pedigree members. Exons and flanking sequences of RHD gene were amplified, sequenced and analyzed for heterozygosity. The familial genetic state of DEL phenotype was further analyze in the family members.@*RESULTS@#The DAT was strongly positive in the proband. The 1227G>A allele (RHD*DEL1) was present in the exon 9 of RHD gene, and the mother was the carrier of RHD*DEL1. The proband was identified as RHD+/RHD-, suggesting the CDe/Cde haplotype.@*CONCLUSION@#The proband is DEL phenotype (RHD*DEL1).

Identification of Phenotype and Genotype in One Case with Weak D blood group / 中国实验血液学杂志

OBJECTIVE@#To investigate the phenotype and genotype of the weak D blood group in one case of Chinese Han people.@*METHODS@#Phenotype of blood sample was identified with serologic tests; PCR-SBT was applied for the analysis of genotype and RhD zygosity.@*RESULTS@#Both saline and gel card tests demonstrated this case to be dCcee, which was contrary to glass bead card result. Some of the RBC D epitopes were negative.c.1022T>A allele was identified with PCR-SBT and the zygosity analysis showed this case to be D/d.@*CONCLUSION@#RHD*1022 A is more suitable to be categorized as weak partial D other than weak D in a Chinese Han people.

Association between polymorphisms of inflammatory factor genes and coronary heart disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the association between genetic polymorphisms of inflammatory factors and susceptibility to coronary heart disease(CHD) in southern Chinese Han population.</p><p><b>METHODS</b>Using matrix-assisted laser desorption/ionization-time-of-flight mass spectrometry (MALDI-TOF-MS) method, the genotypes of five inflammatory factors (BRCA1-associated protein, a disintegrin and metalloproteinase 8, inter-alpha-trypsin inhibitor H3, interleukin-15, cyclooxygenase-2) were anaylzed in 283 CHD patients diagnosed by angiography and 176 controls.</p><p><b>RESULTS</b>In these inflammatory factors, the 270T/C and 90A/G polymorphisms of the BRAP gene showed a significant association with CHD. The allele and genotype frequencies of BRAP gene were consistent with those predicted by Hardy-Weinberg equilibrium (chi-square=0.878, P> 0.05; chi-square=0.776, P> 0.05, respectively). The frequencecies of 270C and 90G alleles in CHD patients was significantly higher than those of the control group (29.51% vs. 21.31%, P=0.006; 30.04% vs. 21.31%, P=0.004, respectively). Compared with 270TT and 90AA, 270CC and 90GG genotypes had a significantly increased CHD risk by Logistic regression analysis (OR=4.51, 95%CI: 1.41-14.45, P=0.011; OR=5.09, 95%CI: 1.60-16.26, P=0.006, respectively). This association was still signifcant after adjustment for the sex, age, smoke, hypertension, diabetes, plasma total cholesterol and low density lipoprotein levels. No evidence of association was found for other single nucleotide polymorphisms.</p><p><b>CONCLUSION</b>The 270T/C and 90A/G polymorphisms in the BRAP gene may contribute to an increased risk of CHD among southern Chinese Han population.</p>

Study on the correlation between CETP TaqIB,KCNE1 S38G and eNOS T-786C gene polymorphisms for predisposition and non-valvular atrial fibrillation / 中华流行病学杂志

Objective To study whether CETP TaqIB,KCNE1 S38G and eNOS T-786C genetic polymorphisms are associated with non-valvular atrial fibrillation in the Han population from Zhejiang province.Methods Polymerase chain reaction restriction fragment length polymorphism assay was used to detect the distribution of alleles and genotypes of CETP TaqIB,KCNE1 S38G and eNOS T-786C in 147 patients with non-valvular atrial fibrillation and in 147 subjects as controls in Han population of Zhejiang province.Results (1)The frequency of CETP B1 allele in NVAF patients was higher than that of the control group and showing a statistically significant difference(OR=1.763,95%CI:1.247-2.492.P=0.002). (2) Results from logistic regression analysis revealed that: after adjustment of confounding variables such as sex,age,smoking,hypertension and body mass index,data from the binary logistic analysis showed a statistically significant difference in CETP TaqIB genetic polymorphism between Patients and controls.(3)From multifactor dimensionality reduction analysis,results showed an interaction of CETP TaqIB,KCNE1 S38G and eNOS T-786C genetic polymorphisms.Odds ratio of the three simultaneously existing genetic polymorphisms was 1.849 times more than CETP TaqIB alone.Conclusion CETP BI allele was an independent risk factor for predisposition to non- valvular atrial fibrillation.These findings suggested that the simultaneous existence of CETP B1,KCNE1 S38G and eNOS T-786C allele might be elevated with the predisposition to non-valvular atrial fibrillation in the Han population of Zhejiang province.

Changes of platelet aggregation function of apheresis collected platelets and soluble P-selectin during storage / 中国实验血液学杂志

The objective of this study was to explore the changes of aggregation function of apheresis platelets and soluble P-selectin (sP-selectin) during storage. 20 samples of apheresis platelets were collected, and the aggregation function were examined by function test and the level of sP-selectin every day in storage of 5 days. The results showed that the aggregation function of platelets declined obviously during storage, there were significant differences between the first-day group and any of the other groups (p < 0.01). The max platelet aggregation rate was < or = 3% in the fourth-day group; sP-selectin level in plasma increased with prolong of storage time; there were significant differences between the first-day group and any of the other groups (p < 0.05). In conclusion, platelets were activated continuously during storage, while its aggregation function declines significantly. The ability of platelet aggregation to response to ADP loses almost completely since the fourth day during platelet storage. It should be paid more attention to the damage of apheresis collected platelets during storage.

Quantitative detection of DD3 mRNA in prostate cancer tissues by real-time fluorescent quantitative reverse transcription polymerase chain reaction / 中华男科学杂志

<p><b>OBJECTIVE</b>To analyze the expression of DD3 mRNA in the prostate tissues.</p><p><b>METHODS</b>DD3 mRNA was detected by realtime fluorescent quantitative reverse transcription polymerase chain reaction (FQ-RT-PCR) based on the Taqman technique in the tissues of 27 patients with non-prostate cancer( NPCa), 21 prostate cancer( PCa), 39 benign prostatic hyperplasia (BPH) and 15 normal prostate (NP). The ROC curve was used to evaluate the diagnostic value of DD3 mRNA.</p><p><b>RESULTS</b>DD3 mRNA expression was not detected in the NPCa tissues. The median expressions of DD3 mRNA in PCa, BPH and NP tissues were 7. 2 x 10(6), 2. 5 x 10(4) and 1.5 x 10(4) copies/mg tissue, respectively. The DD3 mRNA expression levels were significantly different between nonmalignant and malignant tissues (P < 0.01). No significant differences in DD3 mRNA expression were detected between the NP and BPH tissues and no significant correlation was found between the DD3 mRNA expression and clinical pathological parameters. The AUC-ROC was 0.937 (95% CI: 0.879 - 0.995) at cutoff value 1.4 x 10(5) copies/mg tissue. The sensitivity, specificity, accuracy, positive predictive value, negative predictive value, positive likelihood ratio and negative likelihood ratio for DD3 were 90.5%, 85.0%, 86.7%, 76.0%, 94.3%, 6.03 and 0.11 respectively.</p><p><b>CONCLUSION</b>The DD3 mRNA expression is confined to prostate tissues and highly upregulated in PCa tissues. It has a potential application value in the early diagnosis of prostate cancer and the follow-up of the patient.</p>