Objective The frequency of G6PD deficiency in the Tujia nationality in Jiangkou,Guizhou was investigated.Methods In Oct.2002,227 male subjects were selected randomly from the local people,and NBT qualitative and G6PD/6PGD quantitative methods were used to detect G6PD deficiency in them.Results Among the 227 subjects,17 cases of G6PD deficiency were found.The gene frequency of G6PD deficiency was 0.0749.Conclusion There is a high incidence of G6PD deficiency in Tujia nationality in Jiangkou,Guizhou.The investigation will illustrate the distribution of G6PD deficiency in Guizhou,and provide some useful data for the preventing G6PD deficiency,directing clinical management,improving minority population diathesis and studying the origin of Tujia nationality.

Objective To investigate the association between genetic polymorphisms of exon3 of nicotinic acetylcholine receptor ?4 subunit (CHRNA4) and sporadic Alzheimer's disease(SAD).Methods In 23 SAD patients and 30 people of normal control, exon3 of CHRNA4 was screened by PCR-DGGE and DNA sequencing.Results Three new genetic polymorphisms were found in the exon3 of CHRNA4: C104T, A136G, G169A.The frequnces of these three genes in SAD group were 35%,46%,61% respectively and in control group were 13%,13%,33% respectively. There were significant difference between two groups (all P

0.05). Conclusion Two new polymorphic sites were found in CHRNA7 gene.There were not associated in pathsgenesis of SAD.

Objective Study on methylenetetrahydrofolate reductase(MTHFR)gene polymorphism in coronary heart disease.Methods Detect the MTHFR C677T gene polymorphism by PCR-RFLP in 73 cases of healthy individuals and 87 cases of coronary heart diseas(CHD).Results At the site of 677,the T allele frequencies are 18.5%,36.1%,respectively,for healthy individuals and 87 cases of coronary heart disease.The frequecies of MTHFR CT genotype and T allel were significantly higher in disease groups.There are significant differences between disease group and control group(P

control group,and showed statistically significant difference among three groups(P0.05).Conclusion Excessive fluorine intake may cause unbalanced free radical metabolism.It suggests that the intervention on fluorine intake will contribute to resume the balance of oxidation.

Objective To reduce the birthrate of ?-thalassemia major and improve the quality of population. Methods 527 pregnant women and their spouses were screened at 12~26 weeks of gestation with hematological data to find out carriers of ?-thalassemia. The blood samples of the couples who were both carriers were analyzed with PCR-RDB method for prenatal gene diagnosis. The umbilical blood samples were examined to prove the results. Results There were 28 cases of ?-thalassemia out of 1054 individuals, the positive rate was 2.66%; the ratio of male to female was 1/1.15. As the result of prenatal gene diagnosis, among four fetuses at risk, one was completely normal while three were with ?-thalassemia major(one homozygous and two compound heterozygous) who were aborted within 2 weeks after prenatal gene diagnosis. Conclusions It suggests that the PCR-RDB assay is effective in preventing the birth of ?-thalassemia major and has clinical significance in improving the population quality.

Objective To investigate the association between apolipoprotein J(ApoJ)gene polymorphism and type 2 diabetes mellitus(T2DM).Methods The exons 3、4、7、8 of ApoJ gene were screened by polymerase chain reaction-denaturing gradient gel electrophoresis(PCR-DGGE)in 61 type 2 DM patients and 60 healthy control subjects of Chinese population.Abnormal bands were sequenced.Results The deletion/insertion polymorphism site in exon 7 of the ApoJ gene on two subject groups had significant difference (P0.05).Conclusion ApoJ of exon 7 deletion/insertion polymorphism is one of the genetic marker of 2 DM and the ApoJ polymorphism may be associated with 2 DM.

Objective To study whether Helicobacter pylori CagA protein can control gastrin gene expression and the detailed mechanism. Methods First, pcDNA3. 1ZEO (-)/cagA7 was transfected into gastric cancer cell lines AGS and SGC-7901 cells. At the same time, culturing the Helicobacter pylori NCTC11637 and infecting AGS and SGC-7901 cells with it. Next, in the infected and transfecled AGS and SGC-7901 cells, respectively adding the JAK2 signaling pathway inhibitor AG490 and the ERK signaling pathway inhibitor U0126 to inhibit the two signaling pathway. Untreated gastric cancer cells and empty vector transfected cells as the control. Using real-time fluorescence quantitative PCR to detect the levels of gastrin mRNA in transfected and infected cells. Results After AGS and SGC-7901 cells were transfected with pcDNA3. lZE0(-)/cagA7 and infected with NCTC11637, the results showed that the expression of gastrin mRNA increased significantly (P ＜ 0. 05) in transfected and infected cells as compared with the control group, but after adding the inhibitor AG490 and U0126 respectively, the expression of gastrin mRNA decreased significantly(P＜0.05). Conclution These results suggest that CagA may up-regulate the expression of the gastrin gene, and CagA is one of the important proteins in regulating gastrin gene expression. The ERK/MAPK and JAK/STAT signaling pathways may be involved in controlling of gastrin gene expression by CagA.

Objective To investigate the possible pathological role of mitochondrial apoptosis pathways and its factors in fluorosis-induced apoptosis of human hepatocellular carcinoma cell strain (HepG2).Methods Under the stimulation of 1,3,6 and 9 mmol/L concentrations of NaF in vitro for 24 h (n =5),while normal control group was cultured under normal condition,the cytotoxicity was measured with MTT.The mitochondrial apoptosis inducing factor (AIF) was measured at both mRNA (n =5) and protein levels (n =6),respectively,by real-time PCR and Western blotting.The mitochondrial apoptosis related factors,such as B-cells lymphoma-2 (Bcl-2),Bcl-associated X protein (Bax),cytochrome C,caspase-9 and caspase-3 were measured at protein levels (n =6).Results After treated with 0,1,3,6 and 9 mmol/L NaF for 24 h,the cell absorbance of HepG2 cells was 0.307 ± 0.031,0.333 ± 0.028,0.230 ± 0.011,0.178 ± 0.001 and 0.152 ± 0.003,respectively,and the differences were statistically significant among groups (F =82.224,P ＜ 0.01).After treated with 3 mol/L NaF for 24 h,the mRNA level of AIF was [(153.14 ± 5.41)％] which was increased compared to the control group [(100.00 ± 4.70)％,t =-4.73,P ＜0.05].Under the same condition,the protein levels of AIF,Bcl-2,cytochrome C in cytoplasm,caspase-9 and caspase-3 were (152.16 ± 47.30)％,(171.90 ± 51.52)％,(458.00 ± 19.48)％,(527.17 ± 200.67)％ and (432.70 ±64.27)％,which were increased compared to those of the control groups [(100.00 ± 48.86)％,(100.00 ± 34.44)％,(100.00 ± 116.59)％,(100.00 ± 19.58)％ and (100.00 ± 137.16)％,t =-3.80,-3.96,-15.76,-4.64,-5.06,all P ＜ 0.05],while the protein levels of Bax and cytochrome C in mitochondrion were (24.66 ± 26.04)％,(72.99 ±45.34)％,which were decreased compared to those of the control groups [(100.00 ± 44.01)％,(100.00 ± 34.14)％,t =6.35,0.68,all P ＜ 0.05].Conclusion The mitochondrial apoptosis pathway and related factors may be involved in NaF-induced cell death in HepG2 cells.

Objective To identify the distribution feature of methylenetetrahydrofolate reductase (M T HFR) gene polymorphism of Buyi ,Dong ,Miao nationality in Guizhou .Methods The MTHFR(677 and 1 298) genotypes of Buyi ,Miao and Dong healthy indi-viduals were determined by TaqMan-MGB probe genotyping method and constructed haplotypes .Results There were significant difference of MTHFR 677C/T genotype and allele frequencies among 3 groups(P<0 .05) ,There was significant difference of geno-type between Buyi and Miao nationality ,and there were significant differences of genotype frequencies in Buyi nationality and Dong and Miao nationality(P<0 .01) .There were no differences of MTHFR 1298A/C genotype frequencies among Buyi ,Dong and Miao nationality(P> 0 .05) .Buyi nationality had the lowest frequency in double wild homozygous type (677CC/1298AA) ,677TT/1298CC double mutation homozygous and 677TT/1298AC combination in above three minorities was not found .There were linkage disequilibrium between 677C/T and 1298A/C in Buyi and Miao nationality .Conclusion The genotypes frequencies of MTHFR 677T T/1298AC are significant differences among different regions and different ethnic groups .