<p>OBJECTIVETo investigate the association between polymorphisms at -14 bp and zinc finger protein(ZNF) sites of ATP-binding cassette transporter A1 (ABCA1) gene promotor and high density lipoprotein-cholesterol (HDL-C) level and coronary heart disease (CHD).p><p>METHODSPolymorphisms of Bme13901 restriction site at -14 bp and an insertion/deletion site of ACCCC in variable number of tandem repeats-zinc finger protein(VNTR-ZNF) of ABCA1 gene were detected using PCR in 260 CHD patients and 220 healthy subjects from a Chinese population in Tianjin.p><p>RESULTSCT genotype was most common in both groups with no differences found in between (P> 0.05). No differences were found in the frequencies of the rare T allele for -14 bp (P> 0.05). For the -14 bp site, subjects with CT/TT genotype had a lower serum mean concentration of HDL-C compared with those with the CC genotype (P< 0.05). Genotypic frequencies of VNTR-ZNF were 6.2% for the inserted form, 43.8% for the deleted form and 50.0% for the inserted/deleted form. No significant difference was found in the distribution of allele and genotype, or in the levels of HDL-C between the two groups (P> 0.05).p><p>CONCLUSIONThe genotypes at -14 bp of ABCA1 gene are associated with the plasma level of HDL-C. HDL-C levels in T allele carriers were significantly lower (P< 0.05). No association was found between variations in ABCA1 VNTR-ZNF and plasma levels of HDL-C, or between the ABCA1 -14 bp and VNTR-ZNF polymorphisms and susceptibility for CHD.p>
ATP Binding Cassette Transporter 1 ; ATP-Binding Cassette Transporters ; genetics ; Cardiovascular Diseases ; genetics ; metabolism ; Case-Control Studies ; Cholesterol, HDL ; genetics ; metabolism ; DNA-Binding Proteins ; genetics ; Female ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic ; Promoter Regions, Genetic

<p>OBJECTIVETo investigate the association of the 4G/5G polymorphism located in the promoter region of plasminogen activator inhibitor-1(PAI-1) gene with prognosis of coronary artery disease (CAD) in Chinese Hans.p><p>METHODSOne hundred and fifty five patients with CAD and 190 unrelated healthy control individuals were included in the study. The 4G/5G polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. A follow-up survey of major adverse cardiovascular event (MACE) and analysis of the relationship between the severity of coronary vessels and PAI-1 gene polymorphism were carried out.p><p>RESULTS(1) The frequency of 4G/4G genotype of PAI-1 gene was higher in CAD patients than in controls (58/155, 37.42% vs 52/190, 27.37%, P< 0.01). (2) The frequency of 4G/4G genotype of PAI-1 in patients with MACE was higher than that in patients without MACE (40/81, 49.38% vs 18/74, 23.42%; P< 0.01). (3) The frequency of 4G/4G genotype in patients with multivessel disease was higher than that in patients with single-vessel disease (30/47, 44.77% vs 9/37, 24.32%; P< 0.05).p><p>CONCLUSIONThe 4G/5G polymorphism located in the promoter region of PAI-1 gene was associated with prognosis of CAD patients, and may be regarded as a biomarker of the severity of the involved vessels.p>
Coronary Artery Disease ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Male ; Plasminogen Activator Inhibitor 1 ; genetics ; Polymorphism, Genetic ; genetics

<p>OBJECTIVETo characterize the deficiency of the mRNA expression of specific protein (SP3) gene in peripheral blood mononuclear cells (PBMCs) from Chinese patients with multiple sclerosis (MS) and study its correlation with the disease phenotypes.p><p>METHODSFifty-six patients with definite MS were collected and total RNA was extracted from their PBMCs. Specific primers corresponding to SP3 gene were designed and the mRNA expression of SP3 gene was detected by reverse transcriptase-PCR (RT-PCR) method. The deficiency of SP3 expression was compared among MS patients, irrelevant disease group and normal controls.p><p>RESULTSOf the 56 MS cases, 23 (41.1%) were SP3-deficient. In contrast, the frequency of SP3-deficiency in normal subjects and irrelevant disease controls was 8.6% (5/35) and 14.3% (4/27), respectively. The frequency of the SP3-expression deficiency in MS patients was significantly higher than that in both control groups (P< 0.01). Within the MS cases, the scores of expanded disability status scale (EDSS) in the SP3-expressing subjects were significantly different from that in the SP3-deficient ones in the stable, but not in the active, phase of MS (P< 0.05).p><p>CONCLUSIONAuthor's observation suggested that deficient expression of SP3 gene occurs in Chinese MS patients, and that the SP3 expression may correlate with the clinical manifestations of MS and play roles in its immunological pathogenesis.p>
Adolescent ; Adult ; Aged ; Child ; Female ; Humans ; Leukocytes, Mononuclear ; metabolism ; Male ; Middle Aged ; Multiple Sclerosis ; genetics ; RNA, Messenger ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Sp3 Transcription Factor ; genetics ; Young Adult

<p>OBJECTIVETo investigate the possible association between the single nucleotide polymorphisms (SNPs) (C-8343G, C-1863T and R72P) in TP53 gene and susceptibility to liver metastases of colorectal cancer (CRC) in a Chinese population.p><p>METHODSThe genotypes of each SNP in TP53 gene were determined by either TaqMan assays or PCR-based restriction fragment length polymorphism (RFLP) method in 121 colorectal cancer patients with liver metastases and sex-, age-matched 280 cases with nonmetastatic CRC as a control. Immunohistochemical staining for P53 was performed on paraffin-embedded sections. Odds ratios (ORs) for colorectal liver metastases and 95% confidence intervals (CIs) from unconditional logistic regression models were used to evaluate relative risks.p><p>RESULTSNo significant association of C-8343G or C-1863T with colorectal liver metastases risk was observed. However, the R allele of the TP53 R72P polymorphism was more frequently found in metastatic cases than in nonmetastatic cases (P= 0.037). When compared with PP homozygotes, the ORs of metastases for RP heterozygotes was 2.21 (95% CI: 1.13-4.33), for RR homozygotes was 2.26 (95% CI: 1.03-4.94), and for carriers of the 72R allele (RP or RR genotype) was 2.22 (95% CI: 1.16-4.26). Stratified analysis indicated that carrying the 72R allele had a more pronounced increase in colorectal liver metastases risk among patients with positive P53 expression tumors (OR= 3.28, 95% CI: 1.21-8.88), whereas no significantly increased metastases risk was found in patients with negative P53 expression tumors (OR= 1.37, 95% CI: 0.52-3.62).p><p>CONCLUSIONThe R allele of the TP53 R72P polymorphism may contribute to the etiology of liver metastases in CRC patients, particularly among those with positive P53 expression tumors. Both TP53 C-8343G and C-1863T may be not associated with colorectal liver metastases risk.p>
Adult ; Aged ; Aged, 80 and over ; Colorectal Neoplasms ; complications ; genetics ; Female ; Genes, p53 ; genetics ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Liver Neoplasms ; genetics ; secondary ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics ; Polymorphism, Restriction Fragment Length ; genetics

<p>OBJECTIVETo identify the human hair basic kerat in 6 gene (hHB6) gene mutation in a mother and her daughter with monilethrix.p><p>METHODSClinical data were obtained by investigating the pedigree and examining the patients' hair and skin. Total genomic DNA of the family participants was isolated. All exons and exon-intron boundaries of hHB6 were amplified by PCR. Mutation screening was carried out using direct DNA sequencing. Restriction fragment length polymorphism (RFLP) analysis was used to confirm the mutation, and to investigate if the mutation co-segregated with the disease in the family and existed in normal controls.p><p>RESULTSA heterozygous transition of c.1204G to A (p.E402K) of hHB6 was identified. RFLP analysis demonstrated that affected members carried the p.E402K mutation, but the unaffected members of the family and 150 unrelated normal Chinese Han nationality controls did not carry the mutation.p><p>CONCLUSIONThis study identified the hHB6 gene mutation c.1204G to A (p.E402K) in a Chinese monilethrix family. The mutation was inherited from the mother to her daughter. The results emphasized the key role of hair keratin hHB6 in the pathogenesis of monilethrix and indicated that the common mutation of hHB6 was also a cause of monilethrix in Chinese.p>
Asian Continental Ancestry Group ; genetics ; China ; Female ; Hair Diseases ; genetics ; Humans ; Keratin-6 ; genetics ; Male ; Mutation ; Pedigree ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; genetics

<p>OBJECTIVETo study the relationship between estrogen receptor beta gene (ER beta) polymorphism and unknown aetiology hypomenorrhea in Southwestern China .p><p>METHODSOne hundred eumenorrhea women were chosen as control group and another 100 hypomenorrhea patients as case group from Southwestern China. Restriction fragment length polymorphism (RFLP) of the Rsa I and Alu I in ER beta gene was analysed. The ER beta gene polymorphism genotype distribution in case group and control group was compared.p><p>RESULTSR allele frequency in case and control groups was 37.5% and 48.5% respectively, the OR was 0.64 (95%CI: 0.42-0.97), P= 0.026. A allele frequency in case and control groups was 18.0% and 11.5% respectively, the OR was 1.69 (95%CI: 0.93-3.09), P= 0.07. RFLP of Rsa I and Alu I in both groups were distributed with polymorphism.p><p>CONCLUSIONERbeta gene polymorphism has a relation with unknown aetiological hypomenorrhea. R allele may be the guard factor, and A allele may be its risk factor.p>
Adult ; Binding Sites ; genetics ; Deoxyribonucleases, Type II Site-Specific ; metabolism ; Estrogen Receptor beta ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Menstruation Disturbances ; etiology ; genetics ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics ; Polymorphism, Restriction Fragment Length ; Young Adult

<p>BACKGROUND AND OBJECTIVEThe basic structure of salicylaldehyde-amino acid Schiff base compounds includes a C=N chemical bond. These compounds show significant antitumor activities in vitro when combined with a metal ion. This study investigated the effects and possible mechanisms of four salicylaldehyde-amino acid Schiff base copper ternary coordination compounds on the proliferation of human gastric cancer cell line BGC823.p><p>METHODSThe BGC823 cells were treated with the four compounds (6B, 7B, 6P, and 7P). Cell proliferation was detected by MTT assay. Apoptosis and changes in the cell cycle were analyzed by flow cytometry. DNA damage was observed using a DNA ladder assay. The expression of p53 protein was determined by immunocytochemistry.p><p>RESULTSThe proliferation of BGC823 cells was significantly inhibited by the four compounds and the effect was concentration-dependent. The half maximal inhibitory concentration (IC50) of 6B, 7B, 6P, and 7P for BGC823 cells were 18.10, 27.50, 3.61, and 3.45 micromol/L, respectively. Flow cytometry showed the four drugs induced apoptosis in BGC823 cells, which was confirmed by DNA ladder experiments. Flow cytometry also detected changed phases in the cell cycle from treatment with the compounds. The percent of cells in the G(0)/G(1) phase decreased and that of cells in the G1/S and G(2)/M phases increased, indicating that S-and G2-phase blockages exist. As shown by immunocytochemistry, the expression of p53 decreased in BGC823 cells treated with the four drugs, indicating the involvement of the p53 pathway to BGC823 cell apoptosis.p><p>CONCLUSIONSThe four compounds showed significant activities on restraining proliferation of BGC823 cells in vitro, induced apoptosis, and caused changes in the cell cycle. This may be related to the downregulation of p53.p>
Aldehydes ; chemistry ; Amino Acids ; chemistry ; Antineoplastic Agents ; chemical synthesis ; pharmacology ; Apoptosis ; drug effects ; Cell Cycle ; drug effects ; Cell Line, Tumor ; Cell Proliferation ; drug effects ; Coordination Complexes ; chemical synthesis ; pharmacology ; Copper ; chemistry ; Humans ; Inhibitory Concentration 50 ; Schiff Bases ; chemistry ; Stomach Neoplasms ; metabolism ; pathology ; Tumor Suppressor Protein p53 ; metabolism

<p>OBJECTIVETo reveal the distribution of genetic polymorphism of two novel Y chromosome short tandem repeat (Y-STR) loci (DYS508, DYS516) in Chinese Chengdu Han population.p><p>METHODSTwo Y-STR loci were amplified with PCR. The products of PCR were analyzed with polyacrylamide gel electrophoresis. Each allele of these 2 Y-STR loci was sequenced and the allele ladders were constructed. Alleles of these Y-STR loci were nominated according to recommendations of the International Society of Forensic Genetics (ISFG).p><p>RESULTSSix and 6 alleles were observed in loci DYS508 and DYS516 respectively. The gene diversity of DYS508 and DYS516 was 0.7242 and 0.7931 respectively. The diversity of haplotype for these Y-STR loci was 0.9397. The value of discrimination power and the exclusion chance of paternity for these Y-STR loci were same as the value of haplotype diversity.p><p>CONCLUSIONBoth Y-STR loci are high genetic polymorphic. They are beneficial to the test of male-female mixtures and paternity identification in forensic science.p>
Asian Continental Ancestry Group ; genetics ; China ; Chromosomes, Human, Y ; genetics ; Female ; Forensic Genetics ; methods ; Gene Frequency ; Haplotypes ; Humans ; Male ; Paternity ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Tandem Repeat Sequences

<p>OBJECTIVETo construct pGL2-ApoA I luciferase reporter vector containing ApoA I gene regulation area, and to investigate the effect of G --> A and C --> T substitution in ApoA I promoter -75 bp and intron 1 +83 bp region respectively on ApoA I gene expression.p><p>METHODSHuman chromosome DNA fragments containing ApoA I gene were amplified by PCR, and the DNA fragments consisting of ApoA I AA/CC, GG/TT and GG/CC genetypes were selected separately, then pUC vector including above three different DNA fragments was constructed. After digesting pUC vector with Sac I and Bgl II, ligate the different DNA fragments to basic pGL2 vector that containing luciferase reporter gene. Recombinant and PRL-null vector were cotransfected into HepG2 cells by using cationic liposome method. Cells were cultured for 48 h, activity of firefly and renills luciferase was measured.p><p>RESULTSThree vectors with pGL2-ApoA I-L(-2500 to +289 bp) long fragment vectors and 3 with pGL2-ApoA I-S(-145 to +289 bp) short fragment vectors were combinated successfully. Relative activity of luciferase for ApoA I AA/CC or GG/TT was lower than that for GG/CC significantly.p><p>CONCLUSION-75 bp G --> A and +83 bp C --> T substitution in ApoA I gene may inhibit ApoA I gene transcription and expression. It may be the reason why subjects containing -75 bp A and +83 bp T have lower high density lipoprotein cholesterol (HDL-C) concentration.p>
Apolipoprotein A-I ; genetics ; metabolism ; Cell Line, Tumor ; Cholesterol, HDL ; metabolism ; Genetic Vectors ; Humans ; Introns ; Luciferases ; genetics ; metabolism ; Point Mutation ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic ; Recombinant Fusion Proteins ; genetics ; metabolism ; Transfection

<p>OBJECTIVETo investigate the clinical therapeutic effects of in situ re-grafting of the scalp skin flap after its covering of the exposed devitalized skull following electrical injury.p><p>METHODSThe scalp wounds were debrided during the early postburn stage and the necrotic skull was preserved. The wounds with necrotic skull were then covered with an adjacent scalp skin flap. The grafted scalp skin flap was re-grafted back to the donor site 3 - 6 months after the first operation. The remaining scalp wound with fresh granulation tissue was recovered with split-thickness skin grafts.p><p>RESULTSTen scalp skin flaps were applied in 8 cases of electrical injury of the skull with the maximal defect of 24 cm x 10 cm and all survived very well free from infection or necrosis. The wounds were closed primarily.p><p>CONCLUSIONIn situ re-grafting of the scalp skin flap after its covering of the exposed devitalized skull following electrical injury shortened the wound healing time with satisfactory contour.p>
Adult ; Burns, Electric ; surgery ; Female ; Humans ; Male ; Middle Aged ; Scalp ; injuries ; surgery ; Skin Transplantation ; methods ; Surgical Flaps ; Time Factors ; Wound Healing