OBJECTIVE：To introduce pharmacogenomics and its applications in establishing clinical pharmacotherapeutic schemes.METHODS：Based on the analysis of the related literatures,the development and contents of pharmacogenomics and their relationship with individualized medication were summarized.RESULTS：Pharmacogenomics studies the association between gene polymorphisms and the variance of drug effects.CONCLUSION：Pharmacogenomics provides a theoretical basis for medication with safety,effectiveness and rationality.

By analyzing the traditional educational mode and subject of the higher medical education, the basic method and emphasis of the experimental class of the clinical medicine educational innovation have been established, and the general frame of the educational innovation content has been constructed, the executive essential point and point in the content of the educational innovation have been made. After several years of the practice and positive exploration, the class has achieved success.

cholesterol 7α-hydroxylase gene ( CYP7A 1 ) plays a key role in the catabolism of cholesterol into bile acids. To investigate whether the A-204C polymorphism in CYP7A1 gene affects the gene expression,using luciferase as the reporter gene, four recombinants were constructed by inserting forward or reverse sequence with A or C allele at the polymorphism site into the promoter-less vector pGL3-basic. The constructs were then transfected into four cell lines and the luciferase activity of each expression vector was examined by dual luciferase reporter gene assay system. The results showed that activities of the forward sequence of both genotypes were higher than that of reverse sequence. Promoter activity of the recombinants with A allele was about one third lower than that with C allele. According to the analysis with TRANSFAC database, there may exist a Zic3 binding site when there is the C allele at -204. Our study indicates that the A-204 C polymorphism in CYP7A1 promoter region decreases its promoter activity and thus represses the gene expression, possibly due to the lack of a potential Zic3 binding site.

A 77-year-old man was admitted to our hospital at July 5th,2010 with an unexplained massive pericardial effusion for 10 years.With dyspnea for one month and normal vital signs without pulsus paradoxus,other physical examination included a small amount of moist rale,normal heart sounds,jugular vein engorgement,positive hepatojugular reflux,hepatosplenomegaly and pitting edema of the extremities.The patient had a complex past history with lymph node tuberculosis,primary artertial hypertension,polycythernia vera,chronic renal insufficiency and hypothyroidism (Hashimoto's thyroiditis),and moreover,received a high dose radiation of 31p in 1967. Family history is negative.The patient had no cardiac tamponade or pericardial constriction during 10 years,he received pericardiocentesis twice,and pericardial effusion was exudative with a high proportion of monocyte.There was no evidences of tuberculosis infection,hypothyroidism,malignant tumor,severe heart failure,uremia,trauma,severe bacterial or fungus infection,chronic myeloid leukemia or bone marrow fibrosis during the admission. The patient refused anti tuberculosis,indwelling catheter drainage or surgical therapy.In this rare case,the aetiology of chronic massive pericardial effusion is most probably chronic idiopathic recurrent pericarditis.

Objective:To investigate the relationship between fester capacity and clinical efficacy on allergic asthma treated by scarring moxibustion.Methods:The patients were randomly divided into scarring moxibustion 9-cone group,3-cone group and 6-cone group.The biggest area,scab-lost time,first-festering time and scarring time of moxibustion sore,and the clinical efficacy in each group was observed.Results:The biggest post-moxibustion sore area in 9-cone group was larger than that in 3-cone group,but had no difference in comparison with 6-cone group;the scab-lost time,first-festering time and scarring time of post-moxibustion sore in each group were of no difference.The clinical efficacy was better in 9-cone group than in 3-cone group,but had no difference in comparison with the 6-cone group.Conclusion:Fester capacity in treating allergic asthma by scarring moxibustion is related to the clinical efficacy and definite fester capacity is the key to good results on allergic asthma.

Objective. To study the associations of IDDM3, IDDM4, IDDM5 and IDDM8 with insulin-dependent diabetes mellitus (IDDM). Methods. The polymorphisms of short tandem repeat (STR) loci D15S657, D11S1369, D6S2420 and D6S503, linked to IDDM3, IDDM4, IDDM5 and IDDM8 respectively, were studied by polymerase chain reaction and polyacrylamide gel electrophoresis (PCR-PAGE) followed by direct sequencing of PCR products in 105 normal Chinese Han nationality subjects and 48 patients with IDDM. Results. The allele frequencies of allele A5 at D15S657 locus, allele A5 at D11S1369 locus and allele A4 at D6S2420 locus were increased significantly in patients with IDDM compared to those in the control group. No difference in the allele frequencies at D6S503 locus was observed between IDDM and control group. Conclusion. IDDM3, IDDM4 , IDDM5 but not IDDM8 may be associated with IDDM in Chinese Han nationality population.

OBJECTIVETo analyze the pattern and prevalence of partial copy deletion of deleted-in-azoospermia (DAZ) gene in the azoospermia factor C(AZFc) region of patients with idiopathic azoospermia or severe oligozoospermia.

METHODSsY581 and sY587 in DAZ gene region were analyzed by polymerase chain reaction-restriction length polymorphism(PCR-RFLP) for its deletion in 197 patients with azoospermia, 166 patients with severe oligozoospermia, and 210 fertile men as controls.

RESULTSDeletion of both DAZ1 and DAZ2 was detected in 18 patients with azoospermia and 10 with severe oligozoospermia, and the prevalence was 9.1% and 6.0% respectively. There was significant difference in deletion rate between the cases and controls.

CONCLUSIONThe frequency of partial copy deletion of DAZ gene in Chinese idiopathic azoospermia or severe oligozoospermia patients is much higher than that of fertile controls, suggesting that the deletion of DAZ1/DAZ2 may be one of the important genetic etiological factors of spermatogenesis damage. The pattern and prevalence of DAZ partial copy deletion are similar to those of Caucasians populations, and detection of DAZ gene partial copy deletion by PCR-RFLP may be adopted as an additional clinical gene diagnostic measure after AZF microdeletion detection.

Azoospermia ; complications ; genetics ; Chromosomes, Human, Y ; genetics ; Deleted in Azoospermia 1 Protein ; Gene Deletion ; Humans ; Infertility, Male ; etiology ; genetics ; Male ; Models, Genetic ; Polymerase Chain Reaction ; RNA-Binding Proteins ; genetics

OBJECTIVETo investigate polymorphisms in the gene for lipoprotein lipase (LPL) in Chinese populations with coronary heart disease (CHD) and to inquire into the relationship between these polymorphisms in LPL gene and CHD.

METHODSGenomic DNA was extracted from patients with CHD and normal control subjects using a salting out method. The entire coding region and flanking sequences of all coding exons of the LPL gene were amplified by PCR technique and PCR products were detected by denaturing high-performance liquid chromatography (DHPLC) and sequenced with a dideoxy terminal termination method.

RESULTSA novel polymorphic site, G830A, that is within the fifth exon of the LPL gene was found. The 192 codon CGA was changed into CAA and resulted in the substitution of glutamine for arginine. Between the control and CHD groups, chi-square test showed no significant difference in the frequencies of the A/A genotype and A allele (P > 0.05). However, the frequencies of A/A genotype and A allele (0.653 and 0.786) in CHD patients with high plasma triglyceride/lowed plasma high density lipoprotein cholesterol were higher than those (0.415 and 0.642) in CHD patients without hyperlipidemia (P < 0.05).

CONCLUSIONNo direct association was found between the LPL Arg192-->Gln substitution polymorphism and CHD, but there is a significant positive correlation between the A/A genotype of the LPL gene and CHD associated with high triglyceride/lowed high density lipoprotein cholesterol. This study may provide new data for exploring the molecular mechanism of CHD.

Alleles ; Apolipoproteins ; blood ; Cholesterol, HDL ; blood ; Chromatography, High Pressure Liquid ; methods ; Coronary Disease ; blood ; enzymology ; genetics ; DNA ; chemistry ; genetics ; DNA Mutational Analysis ; Gene Frequency ; Humans ; Hypertriglyceridemia ; blood ; genetics ; Lipoprotein Lipase ; genetics ; Lipoproteins ; blood ; Polymorphism, Genetic

Objective To understand with greater clearness the genetic polymorphism of (GCT)n repeat of MHC class I chain-related gene A (MICA)in some Chinese populations and provide preliminary genetic evidence for the independent origin of Chinese Baima Tibetan (BMT). Methods ACD-blood or saliva specimens of 411 unrelated individuals from four Chinese populations were collected. A primer pair spanning exon 5 of MICA gene was used to amplify the GCT region. Alleles were detected by PCR and denaturing PAGE. Comparison of the allelic distributions among the four populations was carried out. Results Five previously reported alleles have been observed in all the four populations, but the allelic distributions are different from one another. The most frequent allele is the A5 in all the four populations (0.325 in BMT, 0.345 in Tibetans, 0.390 in Chengdu Hans and 0.319 in Qiangs). A5.1 allele is the second most frequent allele in Chengdu Hans (0.230) and in Qiangs (0.293), while the second most frequent alleles for BMT and Tibetans are A4 (0.254) and A9 (0.272) respectively. The distribution of alleles in BMT is significantly different from that in the other three populations. Conclusion Alleles of MICA gene exon 5 are conservative in all populations studied so far. The results suggest that genetically BMT might be an independent ethnic population.

ObjectiveTo investigate the potential mechanism of serum N-glycan alterations in patients with hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC) by measuring serum N-glycan profile and comparing glycosyltransferase gene expression between HCC tissue and adjacent tissue. MethodsThe samples of HCC tissue, adjacent tissue, and normal liver tissue were collected from 34 patients with HBV-related HCC who were admitted to Chinese PLA General Hospital, and serum samples were also collected. Among these 34 patients, 8 were randomly selected and their serum samples were established as HCC experimental group, and the serum samples of 20 healthy adults were established as control group. DNA sequencer-aided fluorophore-assisted carbohydrate electrophoresis was used to analyze serum N-glycan profile in the HCC experimental group and the control group. Quantitative real-time PCR was used to measure the mRNA expression of 8 glycosyltransferase genes (FUT3, FUT4, FUT6, FUT7, FUT8, Gn-TIII, Gn-TIVa, and Gn-TV) in the HCC tissue and adjacent tissue of 34 patients with HBV-related HCC, and Western blot was used to measure the expression of corresponding proteins. The independent samples t-test was used for comparison of continuous data between two groups. ResultsCompared with the control group, the HCC experimental group had a significant increase in the abundance of N-glycan peak9 (NA3Fb) in serum(t=-2.514,P＜0.05). There were significant differences in the mRNA expression of FUT8, Gn-TIVa, and Gn-TV between HCC tissue and adjacent tissue, and the mRNA and protein expression levels of FUT8 and Gn-TV in HCC tissue were significantly higher than those in adjacent tissue (FUT8 mRNA: 1.50±0.34 vs 0.65±0.11, t=-2.354，P=0.022; Gn-TV mRNA: 3.57±0.64 vs 1.33±016, t=-3.384,P=0001; FUT8 protein: 0.70±0.11 vs 0.083±0.017, t=9.555,P=0.001; Gn-TV protein: 1.33±0.19 vs 0.60±0.15, t=5.097,P=0.007). The mRNA expression level of Gn-TIVa in HCC tissue was significantly higher than that in adjacent tissue (2.90±0.47 vs 1.68±0.19, t=-2.403,P=0.019), but there was no significant difference in the protein expression level of Gn-TIVa between HCC tissue and adjacent tissue (052±0.24 vs 0.24±0.11,t=1.833, P=0.141). The changes of glycosyltransferase gene expression in HCC tissue were consistent with the alteration of serum N-glycan profile. ConclusionSerum N-glycan alterations in patients with HBV-related HCC may be closely associated with the upregulated expression of the glycosyltransferase genes FUT8, Gn-TIVa, and Gn-TV in HCC tissue.