Relationship of MyD88 rs7744 Polymorphism with the Risk and Severity of Coronary Artery Disease / 中国医科大学学报

Objective To investigate the association between rs7744 polymorphism in the 3'?untranslated region(3'?UTR)of myeloid differen?tiation factor 88(MyD88)gene and the risk and severity of coronary artery disease(CAD)in a North Chinese Han population. Methods The CAD and control groups consisted of 540 patients and 270 subjects,respectively. The genotypes of rs7744 were detected by polymerase chain reac?tion?restriction fragment length polymorphism(PCR?RFLP),and clinical data were collected. Results The distributions of MyD88 rs7744 were in HWE(P>0.1). In the<50?year?old age group,a lower risk of CAD was observed for subjects carrying the variant AG genotype in comparison to subjects carrying the wild AA genotype(OR=0.38,95%CI:0.17-0.93,P=0.029). The MyD88 rs7744 polymorphism was also related to the modified Gensini score(P=0.011),which was lower in subjects carrying the variant GG genotype than the wild AA genotype(5.23±3.85 vs 7.49± 4.96). Conclusion Our results revealed that MyD88 rs7744 polymorphism in the 3'?UTR is correlated with the risk and severity of CAD.

The correlation between 5-serotonin transporter gene polymorphism and the first episode major de-pressive disorder and cognitive function in adolescents / 中华行为医学与脑科学杂志

Objective To study the correlation between 5-serotonin transporter ( 5-HTT) gene pol-ymorphism and the first episode major depressive disorder ( MDD ) and cognitive function in adolescent. Methods 5-HTT genotype and allele were detected by polymerase chain reaction ( PCR) amplification of 76 patients with first episode of MDD and 73 normal controls. Case control method was used to analyze the correlation between different genotypes and the onset, the clinical features, and cognitive function. Result-s There was no significant difference between 5-HTTLPR genotype frequencies for the 41 cases of type S/S (53.9%),27 cases of type L/S(35.5%),8 cases of type L/L(10.5%)of case group and 5-HTTLPR geno-type frequencies for the 38 cases of type S/S(52.1%),18 cases of type L/S(24.7%),17 cases of type L/L (23.3%) of control group(P>0.05).Patients with S/S type,L/S type had significantly higher sleep scores than those of patients with type L/L(P=0.005,P=0.001). Agitation score in patients with S/S type group was significantly higher than that in patients with S/L,L/L(P=0.000,P=0.001);patients with S/S inferior-ity scores were significantly lower than those of patients with S/L,L/L(P=0.002,P=0.006). There was no significant difference in cognitive function among three groups. Conclusions In Chinese Han population, there may be no direct association between 5-HTTLPR gene polymorphism and susceptibility to MDD and its cognitive function in adolescents. S/S and L/S patients may be prone to sleep problems,type S/S patients may be prone to irritability and type L/L patients may be prone to inferiority.

Analysis of polymorphism of Pfhrp2 gene in Plasmodium falciparum from falciparum malaria patients in Yunnan Province / 中国血吸虫病防治杂志

Objective To analyze the polymorphism of histidine rich protein 2(HRP II)gene in Plasmodium falciparum (Pfhrp2)from falciparum malaria patients in Yunnan Province,so as to lay the foundation for studying the defection of antigen genes of Plasmodium. Methods The filter paper blood samples and related information of falciparum malaria cases reported were obtained in Yunnan Province from August 2012 to September 2015. Under the guidance of the specific primers,the exon2 regions in Pfhrp2 gene in P. falciparum from DNA samples were amplified by PCR,and the PCR products were sequenced. The sequences of exon2 region in Pfhrp2 gene were blasted by comparing with the reference sequences AY816237,AY816240,and AY816301. Next,the polymorphism of the sequence in exon2 region of Pfhrp2 gene was analyzed by MEGA 5.04 software. The conserved sites and genetic distances between sequences were calculated by using the software as well,and the clustering tree was drawn according to the genetic distances between the amino acid sequences. Results A total of 218 bloods samples from the falciparum malaria cases in 15 prefectures of Yunnan Province were collected,and the sources of infection included Yun?nan,Africa and Myanmar. The PCR results showed that the exon2 regions in Pfhrp2 genes of 155 samples were positive by am?plification and their products were sequenced successfully. The sequence analysis showed that the length range of the amino acid residues of exon2 region in Pfhrp2 gene was from 115 aa to 298 aa,the average length was 239.7 aa. There was no statistically significance among the means of the amino acid residues of the isolates from Africa( 239.9 aa),Myanmar(239.5 aa)and Yun?nan(241.6 aa)(F=0.025,P>0.05). All the 155 amino acid sequences ended with type 12 repeat,98.1%(152/155)of them started with type 1 repeat and 1.9%(3/155)of them started with type 2. Type 2 presented most frequently repeat in all the se?quences and the average repeat times were 12.9. The homologous locus of the DNA sequences in exon2 regions of the 155 Pfhrp2 genes was 894 bp,among which the conservative sites accounted for 20.6%(186/894),and the variable sites for 78.2%(699/894). The genetic distances between the sequences of Africa isolates ranged from 0 to 0.741,and those of the Myanmar and Yun?nan isolates were 0-0.948 and 0-0.750,respectively. The cluster analysis showed that all the 155 sequences clustered into 3 cat?egories on genetic distances between amino acid sequences according to the size of the amino acid sequence length. At the same level,the sequences had approximate lengths and amino acid repeat types. Conclusion The sequence of exon2 region in Pfhrp2 gene of P. falciparum from falciparum malaria cases in Yunnan Province is highly polymorphic,the P. falciparum iso?lates are clustered mainly according to the size of the amino acid sequence of exon2 region in Pfhrp2 gene.

Phenotype and genotype analysis of in herited dysplasminogenemia caused by plasminogen Ala601Thr mutation / 中华检验医学杂志

Objective To detectthe phenotype and gene mutations underlying aninherited dysplasminogenemia pedigree and search the virulence gene.Methods The peripheral venous blood samples of the proband and his family members (fourteen subjects of three generations in total) were collected,and their prothrombin time(PT),activated partial thromboplastin time(APTF),thrombin time(TT),fibrinogen (FIB),fibrinogen degradation products (FDP),D-dimmer (D-D)weretested on a STAGO analyzer,the plasminogen activity (PLG:A) and plasminogen antigen (PLG:Ag) were analyzedby thechromogenic substrate assay and rocket immunoelectrophoresis,respectively.All 19 exons,5' and 3' untranslated regions of PLGwere amplified with PCR.Direct DNA sequencing was used to analyze the amplified products,which wereconfirmed by backward sequencing.Three bioinformatics online softwares (SIFT,PolyPhen-2 andMutationTaster) were used to forecast the possible impact of the mutations on the protein function.At last,themodel analysis of mutate site was taken on a Swiss-Pdb Viewer software.Results The PLG:Avalue of theproband and other 6 family members were decreased to the half,while the PLG:Ag was normal.The D-Dand FDP value of the proband,his grandma and father were slightly higher.DNA sequencing has revealedthat the proband and the other 6 members of this family had the same mutation of g.38829G ＞ A in exon 15,leading to the missense mutationp.Ala601Thr.The results of bioinformatics softwares showed that themutation could affect the thePLGfunction.Protein model analysis indicated that the hydrophobic interaction force and hydrogen bond between the amino acids were changed,which might affect the stability of the PLG.In addition,all the members of this family take the heterozygous SNP of g.2501C ＞ A in the 5 ＇UTR.Conclusions The p.Ala601Thr found in the inherited dysplasminogenemia pedigree in the exon 15 was responsible for the reduced PLG:A of the family,the dysplasminogenemia and this mutation were both reported for the first time in China.

Relationship between folic acid metabolism-related enzyme gene polymorphism and susceptibility of abnormal pregnancy / 重庆医学

Objective To analyze the relationship between methylenetetrahydrofolate reductase (MTHFR)C677T,A1298C and methionine synthase reductase(MTRR)gene polymorphism with abnormal pregnancy history.Methods 549 normal women (control group)and 300 women with the abnormal pregnancy history(observation group)were taken as the subjects by adopting the case control research method.The oral mucosa epithelial cells were collected for extracting genomic DNA.The MTHFR and MTRR gene polymorphisms were detected by the gene sequencing method.Results The distribution frequency of MTHFR 677TT genotype in the abnormal pregnancy group was significantly increased compared with the control group (10.00% vs.3.46%,χ2 =15.25,P <0.01);the distribution frequency of MTHFR-1298CC genotype in the abnormal pregnancy group was significantly in-creased compared with the control group (11.00 vs.4.01%,χ2 =15.66,P <0.01);the distribution frequency of MTRR A66G gen-otype had no statistical difference between the two groups(χ2 =3.02,P =0.082).The interactive analysis of 2 genes indicated that simultaneous carrying the MTHFR A1298C mutation site and MTRR A66G mutation site increased the possibility of abnormal pregnancy occurrence (OR=1.52,P =0.011).Conclusion MTHFR C677T and A1298C have a certain correlation with female ab-normal pregnancy occurrence.

The association between the Uygur patients with schizophrenia and CMYA5 polymorphism / 中国神经精神疾病杂志

Objective To investigate the association between Cardiomyopathy associated 5 (CMYA5) polymor?phisms and schizophrenia in the Uygur Chinese population. Methods Taq-man assay was used to detect CMYA5 gene rs3828611 in 684 schizophrenia patients and 678 healthy controls from Chinese population. The positive and negative symptoms scale (PANSS) was used to evaluate patients’symptoms. Results Neither the genotype nor the allele frequen?cies of rs3828611 was significantly different between the patients and the controls (P>0.05). The differences were not sig?nificant in either each gender subgroup or in each age (teenager and adult) subgroup (P>0.05). The total score and the sub scores of PANSS were not significantly different among patients with different genotype groups (P>0.05). Conclu?sions There is no association between CMYA5 rs3828611and schizophrenia in the Uygur Chinese population.

Relationship between Genetic Polymorphism of Dopamine Receptor and Schizophrenia and Its Forensic Significance / 法医学杂志

Schizophrenia is a common but complex mental disorder affected by multiple factors. Forensic psychiatric assessment of schizophrenia involves evaluations on many aspects, but there is no effective biological identification index for schizophrenia. Researches indicate that dysfunction of dopaminergic neurotransmission plays an important role in the pathogenesis of schizophrenia. Our study reviews the classification, genetic structure of dopamine receptors and the recent pertinent studies between the dopamine receptors and schizophrenia and its forensic significance.

Correlation between Polymorphisms of GSTM1, GSTT1 and GSTP1 (rs1695) on Hematologic Toxicities with Anthracycline/Paclitaxel-Based Chemotherapy in Breast Cancer / 天津医药

Objective To examine the effects of genetic polymorphisms in GSTM1, GSTT1 and GSTP1 (rs1695) genes on hematologic toxicities of breast cancer patients receiving Anthracycline/Paclitaxel- based chemotherapy. Methods Multiply PCR technique and High Resolution Melting method were used to examine these 3 genes polymorphsim in female breast cancers (n=252). Results The GSTP1(rs1695) AG/GG genotype was a risk factor forⅢ-Ⅳdegree of neu-trophil toxicity when patients received Paclitaxel-based chemotherapy and Anthracycline-Paclitaxel-based chemotherapy (OR=6.111, 95%CI 1.526-24.469, P0.05);There was no statistic difference onⅢ-Ⅳdegree hematologic toxicities rates between GSTM1(+) and GSTM1(-), GSTT1(+) and GSTT1(-), GSTP1AA and GSTP1AG/GG patients after they receiced Anthracycline-based chemotherapy (P>0.05). Conclusion The genetic polymorphisms in GSTP1(rs1695) can be used as a gene marker for forecasting the chemotherapy, inducing neutrope-nia toxicities in breast cancer patients receiving Paclitaxel-based chemotherapy.

Expression levels of ICAM-1 and LFA-1 mRNA on PBMC 0f children with febrile seizures / 中国医师杂志

Objective To explore the neuroimmunomedulation mechanism of ICAM-1 and LFA-1 in children with febrile seizures (FS).Methods 40 children with FS were dividedinto simple FS(SFs)groupin20 cases and complex FS(CFS)groupin20 cases,and 30 health children matched with regard to age and sex were enrolled into control group.The real-time fluorescence quantitative PCR wag used to detect the expression of PBMC ICAM-1 mRNA.At the same time,the PBMC LFA-1 mRNA expression wfs studied with Send-QuantitativeRT-PCR analysis.Results The levels of PBMC ICAM-1 mRNA in SFS group were significantly higher than those in control group and CF$group(P<0.05).The levels ofPBMC ICAM-1 mRNA showed downtrend between CFS group and control group.but there was no statistical difference between the two groups(P>0.05).The levels of PBMC LFA-1 mRNA grey-scales in SFS group were significantly higher than those in control group and CFS group(P<0.05).In addition,the levels of PBMC LFA-1 mRNA in CFS group showed downtrend than those in control group,but there wti8 no statistical difference between the two groups(P>0.05).Conclusions The gene expression levels of PBMC ICAM-I/LFA-I in SFS group were different from those in CFS group.Inflammable immunopathology damage induced by ICAM-1/LFA-1 may play an important role in the pathogenesis of SFS.On the contrary,ICAM-1/LFA-1 may have seme neuroprotective effects on the pathogenesis of CFS.

Correlation between the 95th nucleotide polymorphism of aldose reductase (AR) gene intron 8 and type 2 diabetic nephropathy / 中国糖尿病杂志

The study on aldose reductase gene intron 8 A95 C polymorphismin 209 type 2 dia-betic patients and 84 healthy controls showed that the frequency of genotype AAis 7 %in DN,higherthan that in non-nephropathy (1 %) and control (1 %) ,suggsting that intron 8 genotype AA may be arisk factor for diabetic nephropathy .

A Family-Based and Case-Control Association Study of the Serotonin 1B Receptor Gene Polymorphism in Korean Attention Deficit Hyperactivity Disorder

OBJECTIVE: Attention deficit hyperactivity disorder(ADHD) is the most common childhood psychiatric disorder, affecting 3-5% of school-aged children. Although the biological basis of ADHD is unknown, family studies provide strong evidence that ADHD has a genetic basis. Recent genetic studies have suggested associations between ADHD and serotonin 1B(5HT1B) receptor gene G861C polymorphism. The aim of this study is to test for the association between ADHD and 5HT1B receptor gene G861C polymorphism in Korean population. METHOD: We processed DNA extraction and genotyping. 106 Korean children with ADHD and their parents were analyzed using the transmission disequilibrium test(TDT) and haplotype-based haplotype relative risk (HHRR). And the ADHD children were compared with 212 age and gender matched normal controls. RESULTS: There was no statistical difference of distributions between ADHD cases and controls. We did not observe any preferential transmission of alleles of 5HT1B receptor gene G861C polymorphism in ADHD. CONCLUSIONS: Though there is the possibility of failing to detect small genetic effects, our results show no evidence of an association between ADHD and 5HT1B receptor gene G861C polymorphism in the Korean population and indicate that it is unlikely that the 5HT1B receptor is implicated in the susceptibility to ADHD.