Relationship between 936C/T polymorphism in 3’-untranslated region of vascular endothelial growth factor gene and diabetic retinopathy in China

AIM: To study the distribution of 936C/T polymorphism in 3’- untranslated region of vascular endothelial growth factor (VEGF) gene in Chinese Han population and to analyze the relationship between the polymorphism and diabetic retinopathy (DR). METHODS: Two hundred and fifty-four patients with type 2 diabetes mellitus recruited in this study were divided into NPDR group (non-proliferative diabetic retinopathy), PDR group (proliferative diabetic retinopathy) and DM (diabetes without retinopathy) group. The normal control group consisted of 120 subjects. Genotypes were identified by PCR-RFLP among all the subjects, while other clinical parameters were measured. Serum levels of VEGF were tested by the method of ELISA. RESULTS: The frequencies of both genotype CC and allele C were significantly higher in NPDR group and PDR group than those in NC group (²=9.934, ²=4.899, P<0.05 and ²=10.895, ²=5.714, P<0.05) and DM group (²=7.490, ²=4.448, P<0.05 and ²=8.333, ²=5.227, P<0.05). However, the frequencies of genotype (TT+CT) and allele T were significantly lower in NPDR group and PDR group than those in NC group (²=9.934, ²=10.895, P<0.01 and ²=4.899, ²=5.714, P<0.05) and DM group (²=7.490, ²=8.333, P<0.01 and ²=4.448, ²=5.227, P<0.05). Multivariate logistic regression analysis showed that the levels of glycohemoglobin(HbA1c), total cholesterol(TC),low-density lipoprotein cholesterol(LDL-C) and plasma VEGF presented a positive correlation with DR, respectively, and the 936C/T mutation of VEGF exhibited a negative correlation with DR (β=-1.027, OR=0.343, P<0.01, CI: 0.157-0.723). CONCLUSION: Allele 936C of VEGF may be a genetic marker susceptible to DR, while allele 936T may be a protective genetic marker of DR. The 936C/T mutation of VEGF may be a protective factor against DR.     

Association of coagulation factor Ⅻ gene C46T polymorphism and coronary artery disease in patients documented angiography

AIM: To study the distribution of C46T polymorphism of factor Ⅻ(FⅫ) in Chinese Han population and the association of the polymorphism with coronary artery disease(CAD) and acute coronary syndrome(ACS). METHODS: Selected coronary angiography was performed in 168 CAD patients and 210 controls. Genetype of FⅫ was typed by mutagenically separated polymerase chain reaction assay(MSPCR). RESULTS: FⅫ allelic frequencies of C and T were 29.8%, 70.2% and 31.4%, 68.6% in CAD and controls, respectively(P>0.05). Genetype distribution was in accordance with Hardy-Weinberg equilibrium. The frequency of CC, CT, TT in CAD and control was 8.7%, 40.5%, 50.0% and 5.2%, 52.6%, 42.2%. The association between FⅫ genetype and CAD(2=6.393, P<0.05) was observed. As compared with the CC group, the CT genetype was a protective factor for CAD(OR 0.43, 95% CI 0.19-0.97). When compared to stable coronary artery disease, the frequency of TT genetype is significant less in ACS group(45.0% vs 62.5%, 2=4.200, P<0.05). The distribution of genetype in C46T was no significant difference among the numbers of stenosed coronary artery. CONCLUSION: The C46T polymorphism of FⅫ is association with CAD in Chinese Han population. The C→T mutation may be a protective factor against CAD and ACS.     

Family-based transmission disequilibrium association study on TGFβ1 -509C/T polymorphism and IgA nephropathy

AIM: To investigate the relationship between transforming groupth factor beta 1 (TGFβ1)-509C/T polymorphism and IgA nephropathy using family-based analysis of transmission disequilibrium test and haplotype relative risk. METHODS: The genotypes of TGFβ1 -509C/T were determined by PCR-RFLP and direct sequencing. Two family-based designs, transmission disequilibrium test (TDT) and haplotype-based haplotype relative risk (HRR) were employed for the data analysis. The patients were followed up and clinical data retrieved and compared. RESULTS: ① No transmission disequilibrium was found from heterozygous parents onto patients in our 106 trios analyzed by TDT （χ2=0.559, P>0.05）. ② No increased risks of contracting the disease oweing to-509C/T polymorphism of TGFβ1 in our 130 trios analyzed by either genotype-based HRR or haplotype-based HRR （χ2=0.667, P>0.05; χ2=0.650, P>0.05, HRR=0.878）. ③ 296 cases of IgA nephropathy were tracked for nearly two years, the results showed that the CC genotype frequency was very significantly higher in patients with renal function deterioration ［χ2 (CC/others)=10.402, P<0.01, OR=2.900］. CONCLUSION: TGFβ1-509 CC genotype may be associated with progression of IgA nephropathy, but the -509C/T polymorphism is not associated with susceptibility to this disease in Chinese Han population.     

Correlation of adiponectin gene SNP+45 T/G polymorphism with coronary heart disease

AIM: To investigate the relationship between adiponectin gene SNP+45 polymorphism and coronary heart disease (CHD) in south China Han population. METHODS: The nondiabetic CHD patients diagnosed by the coronary angiography were selected as CHD subjects (153 cases), and 73 healthy adults served as normal control subjects. The polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) was performed to identify the distribution pattern of adiponectin gene SNP+45 in all subjects. The levels of plasma adiponectin were measured by ELISA. RESULTS: The frequency of T/G + G/G genotype and G allele in CHD patients were significantly higher than those in control subjects (P<0.05). Logistic regression analysis revealed that the adiponectin gene SNP+45 T/G+G/G genotype had a strong positive association with CHD (OR: 2.132, 95.0% CI: 1.034-4.397, P＜0.05). The plasma adiponectin was negatively associated with CHD (OR: 0.868, 95.0% CI: 0.785-0.959, P<0.05). CONCLUSION: The T/G+ G/G genotype was a possible risk factor for CHD in southern China Han population.     

Association analysis between two SNPs in SNCA and PARK16 genes and Parkinson disease in a Han Chinese population in Liaoning area

AIM: To investigate the genotypic frequency of rs3857059 in SNCA gene and rs16856139 in PARK16 gene for determining the potential genetic risk factors of Parkinson disease (PD) in a Han Chinese population in Liaoning area of China. METHODS: The genomic DNA from 213 PD patients and 214 matched controls was amplified in the multiplex PCR system and subsequently genotyped by digestion with endonuclease Pvu II. Genetic parameter and association studies were carried out with SPSS 13.0 and PLINK 1.07 software. RESULTS: We accurately detected all genotypes in the 2 loci with PCR-restriction fragment length polymorphism (RFLP) techniques. The gene frequency of G allele in the rs3857059 locus was higher in PD group than that in control group with statistical significance (χ²= 7.592,P<0.01, OR=0.677, 95% CI=0.517~0.888). The T allele frequency in the rs16856139 locus was lower in PD group than that in control group and statistical result revealed a significant difference (χ²=11.511, P<0.01, OR=0.390, 95% CI=0.227~0.669). CONCLUSION: The 2 SNPs investigated in SNCA and PARK16 genes are likely to play roles as common risk factors for PD disease in the Han Chinese population.     

Association of endothelial lipase gene Thr111Ile and Gly26Ser polymorphism with lipoprotein in patients with coronary heart disease

AIM: To investigate the association of endothelial lipase gene (LIPG) Thr111Ile and Gly26Ser polymorphism with lipoprotein in patients with coronary heart disease (CHD) in Chinese.METHODS: 438 patients were classified as 242 CHD group and 196 controls group by selective coronary angiography.Plasma level of lipoprotein was determined and the Thr111Ile and Gly26Ser polymorphism was screened by PCR-RELP.RESULTS: The frequencies of Thr111Ile genotype in Chinese were CC 76.7%,CT 23.3％,TT 0.0％.The frequencies of allele were C 88.3％,T 11.7%.The plasma level of HDL-c in CT group was significantly higher than that in CC group (P<0.05) on logistic regression analysis.However,logistic regression analysis revealed that there was no significant difference between CHD group and control group for Thr111Ile polymorphism (P>0.05).No Gly26Ser mutation was observed in this study.CONCLUSION: The polymorphism of Thr111Ile is present in patients with CHD in Chinese,and T allele is related to high HDL-c level.There is no significant association between the polymorphism of Thr111Ile and CHD.The Gly26Ser mutation has not found in this study.     

Association between IL-6-572C/G as well as IFNAR1-168G/C and hepatitis B virus infection in populations of Dai and Han ethnicities in Yunnan Province

ATM: To explore the association between IL-6-572C/G (rs1800796) as well as interferon alpha receptor 1 (IFNAR1)-168G/C (rs2257167) and prognosis after hepatitis B virus (HBV) infection in populations of Dai and Han ethnicities in Yunnan Province. METHODS: The blood samples were collected from Dai people and Han people, each nation including 100 healthy controls and 200 infected individuals (100 spontaneous recovery individuals and 100 chronic patients). Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing were used to identify the gene type. RESULTS: In Dai people, no significant difference was found between genetic polymorphism of -572C/G and prognosis after HBV infection. The differences of C and G alleles between spontaneous recovery group and chronic hepatitis B group, and healthy controls and HBV infection group were not statistically significant. Meanwhile, GG and CG genotypes were a vital protective factor for the person who developed into a chronic heptatitis B patient under the G allele dominance mode (GG+CG/CC) (P<0.05). In Han people, no statistically significance for IL-6-572C/G genotype and allele distribution in each group comparisons had been found, as well as the C allele recessive mode and C allele dominance mode. For the above 4 indicators, no statistically significant difference of IFNAR1-168C/G in Dai and Han people had been found.CONCLUSION: The GG+CG genotype of IL-6-572C/G may be a protective factor for the HBV-infected Dai people to develop into chronic hepatitis B patients. However, there is no significant association between the IFNAR1-168G/C polymorphism and prognosis after HBV infection in the 2 ethnicities.     

Association analysis of FcεRⅠβ gene with allergic asthma in Chinese

AIM: To investigate the linkage between the polymorphism of -109 and Glu237 in the high-affinity IgE receptorβ(FcεRⅠβ) gene and susceptibilty of allergic asthma in adults in a Chinese population. METHODS: Allergic asthma sample in adult and age-and sex-matched control were studied. A-109C/T and a coding variant Glu237Gly in FcεRⅠβ were detected with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: (1)The genotype frequencies were 0.415 for -109T/T, 0.491 for-109T/C and 0.094 for -109C/C in allergic asthma in adults. No significant difference in the distribution of-109C/T polymorphism was found between allergic asthma adult subjects and healthy control subjects. However, a homozygosity for the-109T allele was associated with increased total plasma IgE levels in subjects with allergic asthma (F=7.213, P<0.01). (2)The allele frequency of Gly237 in the patients and control was 0.245 and 0.142, respectively. There was a significant association between Gly/Gly genotype and allergic asthma in adults among allergic asthma patients. Gly237 was significantly associated with high IgE. CONCLUSIONS: It suggests that Gly237 vaviant of the FcεRⅠβ gene is involved in the development of allergic asthma. The-109C/T and Glu237Gly polymorphisms are two of the genetic factors identified, which affects total plasma IgE levels in adult allergic asthma in Han of Hubei province.     

Association between survivin promoter -31C/G polymorphism and genetic susceptibility to sporadic colorectal cancer

AIM: To investigate the association between -31C/G polymorphism in the promoter of survivin gene and the susceptibility to sporadic colorectal cancer (CRC) in southern Chinese population. METHODS: survivin -31C/G genotypes were determined by PCR-RFLP in 711 healthy controls and 702 CRC cases. RESULTS: The number of CRC patients carrying with CC genotype was much higher than that of controls (36.5 % vs 26.2%,2 =17.89,P<0.01). Compared to CC genotypes, CG, GG genotypes and G allele carriers had a significantly decreased risk of CRC, with the decrease being 0.61-fold (95% confidence interval=0.46-0.80, P<0.01), 0.52-fold (95% confidence interval=0.38-0.71,P<0.01) and 0.58-fold (95% confidence interval=0.45-0.74, P<0.01), respectively. CONCLUSION: survivin gene -31C/G polymorphism is associated with sporadic CRC risk, the G variant genotype is the independent protective factors against sporadic CRC in southern Chinese population.     

Association of IFN-γ and IL-4 gene polymorphisms with childhood bronchial asthmatic susceptibility and the levels of plasma IFN-γ,IL-4 and IgE

AIM: To investigate the gene polymorphisms of interferon-γ(IFN-γ) and interleukin-4(IL-4) and the association with asthmatic susceptibility and the levels of plasma IFN-γ, IL-4 and IgE of asthmatic children. METHODS: 100 asthmatic children and 122 control children were enrolled the study. The genotypes of IFN-γ gene-179G/T polymorphism, IL-4 gene-33C/T and-589C/T polymorphisms were tested by PCR-RFLP.The genotype of IFN-γ gene +874A/T polymorphism was tested by AS-PCR.The CA repeat polymorphism of IFN-γ gene was detected by capillary electrophoresis technique.The levels of serum IFN-γ, IL-4 and IgE were measured by ELISA. RESULTS: 100 asthmatic children and 122 control children were all GG homozygotes at -179 locus of IFN-γ gene.-179 locus of IFN-γ gene has no mutation. The genotypes and allele frequency of IFN-γ gene +874A/T and CA repeat polymorphisms showed no significant difference between asthmatic children and the control(P>0.05). An association was revealed between IFN-γ gene +874A/T polymorphism and the level of plasma IFN-γ.The level of IFN-γ was lower in AA genotype than in AT genotype(P<0.05). The genotypes and allele frequency of IL-4 gene -33C/T and -589C/T polymorphisms showed significant difference between asthmatic children and the control(P<0.05).The levels of plasma IL-4 and IgE were higher in TT genotype at -33 locus and -589 locus than those in CT genotype, but only -33C/T polymorphism was associated with the level of plasma IL-4(P<0.05). CONCLUSION: The IFN-γ gene +874A/T and CA repeat polymorphisms were not correlated with asthmatic susceptibility, but there is significant correlation between the level of IFN-γ and +874A/T polymorphism. TT genotype of IL-4 gene -33 locus and -589 locus maybe the susceptible genotype of asthma in children, and the -33 locus polymorphism is associated with the level of IL-4.     

Association of Pro12Ala polymorphism in the peroxisome proliferator-activated receptor-gamma2 with gastric cancers in China

AIM: To study the relationship among peroxisome proliferator-activated receptor-gamma2 (PPAR γ2) gene Pro12Ala polymorphism, Helicobacter pylori (H. pylori) infection, and gastric cancer in China.METHODS: 104 consecutive patients with gastric cancer and 104 age-and sex-matched controls from Guangdong Province of southern China were examined. PPARγ2 Pro12Ala polymorphism was analyzed by PCR-restriction fragment length polymorphism method (PCR-RFLP). H. pylori status of subjects was determined by enzyme-linked immunosorbent assay (ELISA) for anti-H. pylori IgG. RESULTS: The prevalence of H. pylori infection was significantly higher in gastric cancer patients than that in control (81.7% vs 59.6%, 2=12.27, P<0.01; OR=3.0, 95% CI=1.6-5.7). The CC, CG and GG genotype frequency of PPARγ2 gene in Chinese common people was 91.3%, 8.7%, 0 and the G allele frequency was 4.3%. The frequency of PPARγ2 G (Ala12) allele was significantly higher among patients with gastric cancer (19.2%) than that in control subjects (8.7%; P<0.05, OR=2.5, 95% CI=1.1-5.8). Moreover, the combination of PPARγ2 G allele and H. pylori infection substantially increased the risk of gastric cancer (P<0.01, OR=8.9, 95% CI=2.2-35.7). CONCLUSION: PPARγ2 G allele is associated with gastric cancer in China. The risk of developing gastric cancer is significantly increased in the PPARγ2 G allele carriers with H. pylori infection.     

Association of polymorphism of Fc receptor γ chain gene at position-29 in promoter with the susceptibility to systemic lupus erythematosus in southern Chinese

AIM:To detect the association between the polymorphism of Fc receptor γ chain gene at position-29 in promoter and systemic lupus erythematosus(SLE).METHODS:The genotypes at position -29 in promoter of Fc receptor γ chain gene were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in 180 patients with SLE and 140 ethnically matched controls in southern China.RESULTS:The frequencies of TT genotype(33.3%) and T allele (54.4%) at position -29 in patients with SLE were significantly higher than those in controls (17.2% and 42.9%, respectively), whereas, the frequencies of GG genotype (24.4%) and G allele (45.6%) in patients with SLE were remarkably lower than those in controls (31.4% and 57.1%, respectively) (P＜0.05). The TT genotype and T allele at position -29 were not associated with lupus nephritis in SLE patients (P＞0.05).CONCLUSION:Our results indicate that the T allele at position -29 in promoter of Fc receptor gene probably contributes to the susceptibility to SLE, but does not play a role in the occurrence of lupus nephritis.     

SNPs analysis of the METTL4 gene in high myopia groups

AIM: To investigate the single nucleotide polymorphisms (SNPs) in the METTL4 gene which was mapped to 18p11.31, and the relationship between the SNPs and high myopia. METHODS: Genomic DNA was collected from 71 control subjects and 177 individuals with high myopia. Among them, there were 59 autosomal dominant high myopia probands (AD group), 46 autosomal recessive probands (AR group) and 72 patients non-transmitted (SF group). The exons of METTL4 gene were analyzed by polymerase chain reaction, heteroduplex-single strand conformation polymorphism (HA-SSCP) and sequencing. RESULTS: There were 2 SNPs of METTL4 gene in high myopia individuals and control subjects: SNP7438A→C, Glu230Asp, which hadn't been reported in GenBank;and SNP131C→A, Gln310Lys. SNP7438A→C genotypes between controls and high myopia groups were not different. SNP131C→A genotypes between controls and AR or SF groups were not different, while SNP131C→A genotypes showed a significant difference between AD group and control subjects. CONCLUSION: In METTL4 gene, SNP7438A→C is not responsible for high myopia. Further studies are needed to confirm whether SNP131C→A is responsible for autosomal dominant high myopia.     

Association of F XⅢVal34Leu with coronary heart disease

AIM: To investigate the distribution of coagulation factor XⅢ (FXⅢ) Val34Leu polymorphism in Chinese and the relationship between the polymorphism and coronary heart disease (CHD) or myocardial infarction. METHODS: A total of 195 patients with angiographically confirmed CHD and 203 controls were genotyped for the Val34Leu polymorphism by polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) analysis. RESULTS: The FXⅢ Val34Leu was found in 19 out of all 398 samples (4.8%) representing a Leu allele frequency of 2.4%. The distribution of FXⅢ genotype and allele was not significantly different between all patients and controls (P>0.05). The Val/Leu genotype and Leu allele frequencies in subjects without MI were significantly higher than that in subjects with MI (P<0.05). CONCLUSION: There is F XⅢ Val34Leu polymorphism in Han ethnic group.     

Expression of Wnt/β-catenin signaling pathway-related proteins in breast cancer and its clinical significance

AIM: To evaluate the expression of Wnt/β-catenin signaling pathway-related proteins in breast cancer and the significance. METHODS: The patients with breast cancer (n=150) in our hospital from January 2015 to January 2017 were selected as study object. The tumor tissue samples of these patients were obtained from paraffin section of breast cancer by surgical resection with complete clinicopathological data. The corresponding paracancerous tissue sam-ples were taken from the non-tumor tissue samples from the above breast cancer patients, which were 0.5~1 cm away from the tumor tissue. The methods of real-time PCR and Western blot were performed to examine the expression of Wnt-1 and β-catenin at mRNA and protein levels. Human breat cancer MCF-7 cells were divided into 3 groups:control group (MCF-7 cells without treatment), agonist group[MCF-7 cells+Wnt3a (1 mg/L)] and antagonit group[MCF-7 cells+DKK1 (16 μmol/L)]. The expression of Wnt-1 and β-catenin at mRNA and protein levels was detected by real-time PCR and Western blot. RESULTS: Compared with the paracancerous tissues, the expression levels of Wnt-1 and β-catenin were higher in tumor tissues at mRNA and proteins levels (P<0.05). Notably, the positive expression rates of Wnt-1 and β-catenin were significantly higher in tumor tissues than that in the paracancerous tissues. Furthermore, Wnt-1 expression was associated with tumor metastasis (χ²=5.352, P=0.021), tumor stage (χ²=9.412, P=0.002) and tumor size (χ²=9.412, P=0.002). In addition, β-catenin expression was also associated with tumor metastasis (χ²=9.851, P=0.002) and tumor stage (χ²=5.661, P=0.017). Compared with control group, the expression of Wnt-1 and β-catenin at mRNA and protein levels in agonist group was increased (P<0.05),while that in antagonist group was decreased (P<0.05). CONCLUSION: The expression levels of Wnt-1 and β-catenin related with Wnt/β-catenin signaling pathway are increased in the breast cancer, which are closely related to the malignant state of the tumor.     

Distribution of α1 immunoglobulin gene VNTR polymorphisms in Chinese

AIM: To investigate the polymorphisms of the variable number tandem repeat (VNTR) in the α1 immunoglobulin gene in the Chinese population and to compare them with the Caucasians. METHODS: 3 VNTR loci (VNTR1:α1 gene hs1,2 enhancer VNTR; VNTR2: 6 kb forward (change to upstream or down stream) the VNTR1 and E5VNTR: located in the fifth exon) and their lengths in the α1 gene have been retrieved from the genetic databases and literature. Genomic DNA was extracted from 201 healthy Chinese Han subjects. The sizes of the 3 VNTRs were determined by polymerase chain reaction (PCR) and gel electrophoresis, and confirmed by sequencing randomly selected samples. RESULTS: The VNTR1 locus revealed three different lengthed alleles, designated as α1A ,α1B and α1C for one, two and three repeat sequences, respectively, with the frequencies of 30.3%, 59.7% and 10.0%, respectively. 6 genotypes were formed from the alleles with the frequencies of 12% for the AA; 32.3% for the AB; 37.8% for the BB; 4.5% for the AC; 11.4% for the BC; and 2.0％ for the CC, respectively. Compared with the reported Caucasian population the frequencies of the C allele and the BC、CC、AC genotypes were significantly higher (P＜0.01), the A allele and the AB genotype frequencies were significantly lower (P＜0.01). All the examined subjects showed the uniformed lengths of 136 bp for the VNTR2 and 535 bp for E5VNTR alleles. CONCLUSIONS: The repeat numbers of the VNTR1 of the α1 gene in the Chinese Han population are significantly different from the Caucasians with a higher C allele frequency and BC、 AC genotypes, and lower A allele frequency and AB genotype. We could not find evidence of polymorphism in the VNTR2 and E5VNTR loci in the examined subjects. The results represent the first data from the Chinese population regarding the VNTR polymorphisms in the I alpha 1 gene, and provide a useful tool for the gene and the gene related studies.     

平菇细菌性褐斑病病原菌RT-PCR检测方法的建立及其应用

 平菇细菌性褐斑病是一种严重危害平菇生产的病害,早期监测和防治是关键。采用平菇细菌性褐斑病病原菌托拉斯假单胞杆菌（Pseudomonas tolaasii）毒素基因的特异性引物（Pt-1A）/（Pt-1D1）,通过扩增条件优化,建立了该菌的实时荧光定量PCR（Real-time fluorescence quantitative Polymerase Chain Reaction）检测及富集方法,并利用该方法完成了该菌在平菇表层的动态监测。试验结果表明,实时荧光定量PCR对托拉斯假单胞杆菌的检测范围为10² ~ 10⁹ cfu ? mL^-1,在经过选择性培养基富集后,检测灵敏度进一步提高了100倍。利用选择性培养基富集及荧光定量PCR检测方法,可在病害症状未显现之前检测到病原菌,为平菇细菌性褐斑病的流行监测和早期防治奠定了技术支持。     

Study on the association of the polymorphism at the position -418A/G and -384C/T in the Apo(a) promoter

AIM: To investigate two single nucleotide polymorphisms (SNP) in the apolipoprotein(a) promoter at positions -418 and -384 and to compare distributing difference of genotype frequencies of single nucleotide among different races and to explore the influencies of them on serum lipid level and their association with coronary heart disease (CHD). METHODS: Using PCR-RFLP (BsgI,BfaI) method, we determined genotypes of these two SNPs in 156 unrelated healthy controls of HanZu Chinese and 56 unrelated CHD patients of HanZu Chinese and 56 unrelated African Blacks, then cloned polymerase chain reaction (PCR) products into T-vector and sequenced it by M13 currency primer, correspondingly. RESULTS: (1) There was no polymorphism at position -418A/A and -384C/C in control group. Only one CHD patient's genotype determined was -418G/G, other were -418A/A and -384C/C in CHD patients. (2) Only two African Blacks' genotype determined was -418G/G, other were -418A/A and -384C/C in African Blacks. (3) However, the Apo(a) promoter sequence was in coincident with the sequence publicized in GenBank and the base at positions -418 was adenine (A) and -384 was cytosine (C). CONCLUSION: The mutation frequencies at position -418 and -384 were low in the Chinese Han Population of Hubei and perhaps no single nucleotide polymorphisms was at two positions. No association with serum lipid levels and CHD was observed. There were great variabilities to the SNPs in the Apo(a) promoter among different races.     

Relationship of p21WAF1 gene polymorphisms with protein expression in breast carcinomas

AIM: To investigate the relationship between p21^WAF1gene polymorphisms and protein expression in breast carcinoma. METHODS: Polymerase chain reaction single-strand conformation polymorphisms technique (PCR-SSCP) and immunohistochemical assay of S-P immunostaining technique were used to study polymorphisms of p21^WAF1 and protein expression respectively on the specimen of paraffin-embedded tissues in 100 cases of breast carcinomas and 40 benign breast diseases as control. RESULTS: Two p21^WAF1 gene polymorphisms were found in 18% (18/100) of breast carcinomas and 5% (2/40) of control samples. The difference between the two groups was statistically significant (χ²=3.94, P＜0.05). The positive immunohistochemical reaction of p21^WAF1 protein were found in 50% (50/100) of breast carcinomas and 12.5% (5/40) of control samples. The difference between the two groups was statistically significant (χ²=16.84, P＜0.01). The positive immunohistochemical reaction of p21^WAF1 protein were found in 100% (18/18) of breast carcinomas with p21^WAF1 gene polymorphisms and 39% (32/82) of no p21^WAF1 gene polymorphisms. The difference between two groups was statistically significant (χ²=21.95, P＜0.01). The p21^WAF1 gene polymorphisms were correlated with the protein expression in breast carcinomas (r=0.576, P＜0.01). CONCLUSION: p21^WAF1 gene polymorphisms may create the different copies of mRNA and may make relevant protein molecules.