Allele-specific polymerase chain reaction (AS-PCR) is a technique based on allele-specific primers, which can be used to analyze single nucleotide polymorphism (SNP) effectively including the transition, transversion and insertion/deletion polymorphism and has been exploited in the study of diseases research, molecular diagnosis, and forensic biological evidence. The article systematically reviews the principle, the detection methods, improvement of AS-PCR, and its research updates in the fields of autosome, Y chromosome and mitochondrial SNP, as well as its application in forensic science.
Alleles ; DNA Primers ; Forensic Sciences ; Humans ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide

Human violent behavior is a complex behavior which is influenced by genetic and environmental factors. There is a trend in investigating the mechanism of violent behavior by using the genetic methods. This article reviews several candidate genes and advances in epigenetics which are associated with violent behavior. The prospects and significance of violent behavior research from the view of gene polymorphism and epigenetics are also discussed.
Aggression ; Epigenesis, Genetic ; Forensic Genetics ; Humans ; Polymorphism, Genetic ; Violence

OBJECTIVEIn order to investigate whether the presence of distant metastases is associated with serum lipid abnormalities.

METHODSThe fasting serum lipid profile and various clinicopathological data of 324 breast cancer patients with and without synchronous distant metastases were collected and analyzed. The serum lipid profile, including total cholesterol (TC), triglycerides (TG), low-density (LDL-C) and high-density lipoprotein cholesterol (HDL-C) was determined. The nutritional status, the serum albumin was measured and body mass index (BMI) was calculated. Univariate analysis and multiple logistic regression analysis were carried out to investigate the association of serum lipid profile with distant metastases.

RESULTSUnivariate analysis showed that the distant metastasis rate was significantly higher in the breast cancer patients with an higher level of serum TC, TG, LDL-C, and LDL-C/HDL-C ratio (P < 0.05). Multiple logistic regression analysis showed that higher serum levels of TC, LDL-C and LDL-C/HDL-C ratio were independent risk factors for distant metastasis in breast cancer (OR = 2.324, 2.648 and 4.862, respectively).

CONCLUSIONSHyperlipidemia is significantly associated with the distant metastasis in breast cancer patients. Monitoring of serum lipid profile may be helpful to predict the occurrence of distant metastasis in breast cancer patients.

Adult ; Aged ; Aged, 80 and over ; Body Mass Index ; Breast Neoplasms ; blood ; pathology ; Cholesterol ; blood ; Cholesterol, HDL ; blood ; Cholesterol, LDL ; blood ; Female ; Humans ; Lipids ; blood ; Middle Aged ; Multivariate Analysis ; Neoplasm Metastasis ; Neoplasm Staging ; Nutritional Status ; Risk Factors ; Serum Albumin ; Triglycerides ; blood

Chemical constituents of Leonurus japonicus were isolated and purified by a combination of various chromatographic techniques including column chromatography over silica gel, Sephadex LH-20, MCI, and Rp C18. Structures of the isolates were determined by spectroscopic analysis as 10 coumarins: bergapten (1), xanthotoxin (2), isopimpinellin (3), isogosferal (4), imperatorin (5), meransin hydrate(6), isomeranzin(7), murrayone(8) , auraptenol(9), and osthol(10). In addition to compound 9, the others were isolated from the genus Leonurus for the first time. In the in vitro assay, compounds 4 and 8 significantly inhibited the abnormal increase of platelet aggregation induced by ADP.
Blood Platelets ; drug effects ; Coumarins ; chemistry ; pharmacology ; Leonurus ; chemistry ; Platelet Aggregation ; drug effects ; Platelet Aggregation Inhibitors ; chemistry ; pharmacology

OBJECTIVESTo investigate the expression of Survivin in patients with extrahepatic cholangiocarcinoma (EHCC) and its relationship with clinicopathological features of EHCC, and the correlation between the expression of Survivin and lymph node micrometastasis, tumor markers, and the prognosis of EHCC.

METHODSThe expression of Survivin protein in paraffin-embedded specimens of 59 patients with EHCC and their 20 para-carcinoma tissues were evaluated by S-P method of immunohistochemical staining. The correlation between the expression of Survivin and the lymph node micrometastasis, clinicopathological features of EHCC and the prognosis of EHCC were analyzed.

RESULTSThe positive expression rate of Survivin protein was 67.8% (40/59) in paraffin-embedded specimens of 59 patients with EHCC and was 20.0% (4/20) in para-carcinoma tissues, and difference between carcinoma tissues and para-carcinoma tissues was significant (P<0.01). Histological differentiation in EHCC had a negative correlation with the expression of Survivin protein, while the expression of Survivin protein in EHCC had a positive correlation with TNM of EHCC, lymphatic vessel infiltration, lymph node metastasis and perineural invasion (P<0.05). The serum CA19-9 levels in the positive group with expression of Survivin protein was (290,300+/-55 500) U/L and was obviously higher than that in the negative group [(113,300+/-31,400) U/L, P<0.05]. The mean survival time of the patients with negative expression of Survivin protein was higher than that of the patients with positive expression (43.5 vs. 21.1 months, P<0.01). Screened to significance univariate, the multivariate analysis through Cox proportional hazard model analysis showed that lymph node metastasis, residual tumor margins, and expression of Survivin protein were independent prognosis factors of the patients with EHCC (P<0.05, P<0.01, P<0.01).

CONCLUSIONSThe expression of Survivin protein in EHCC has a negative correlation with histological differentiation, while has a positive correlation with lymphatic vessel infiltration and serum CA19-9 concentrations. The expression of Survivin protein maybe an independent prognosis factor of the patients with EHCC.

Adult ; Aged ; Aged, 80 and over ; Bile Duct Neoplasms ; metabolism ; pathology ; Bile Ducts, Extrahepatic ; Cholangiocarcinoma ; metabolism ; pathology ; Female ; Follow-Up Studies ; Humans ; Inhibitor of Apoptosis Proteins ; metabolism ; Lymphatic Metastasis ; Male ; Middle Aged ; Prognosis

Objective To investigate the prevalence of uncorrected refractive errors among urban population aged 50 years and above in Ftming county,Jiangsu province.Methods Survey research was conducted and randomly cluster sampling was used to select individuals aged ≥50 years for visual acuity test and eye examination in Funing county,Jiangsu province.The criteria of uncorrected refractive errors in this study was defined as an improvement of at least 0.2 log MAR (equivalent to 2 lines) in the best corrected visual acuity with the base vision ＜ 0.5 log MAR in daily life.The quantitative data were expressed as mean ± standard deviation,and t-test was used for comparison between groups,and while the count data were expressed as rate or composition ratio,and the x2 test was adopted for comparison between the groups.Logistic regression was used to examine the effect of possible factors (i.e.age and gender) on the prevalence of uncorrected refractive errors.Results A total of 6145 persons aged 50 years and above were enumerated and 5947 (96.8％) participants were examined,of whom 2388 had uncorrected refractive errors,with the prevalence of 40.2％.The prevalence of uncorrected refractive errors for myopia only,hyperopia only,astigmatism,and for hyperopia and astigmatism were 84.4％,84.2％,64.1％ and 100％,respectively.Moreover,the higher prevalence of uncorrected refractive errors presented in elderly person (OR =1.07,P ＜ 0.00l) and female (OR =1.38,P ＜ 0.001),and education was a protective factor for junior high school (OR =0.74,P =0.003) and high school (OR =0.55,P ＜ 0.001).Conclusion Uncorrected refractive errors presented high prevalence in rural population aged 50 years and above in Funing county,Jiangsu province,which are the leading cause of visual impairment.

OBJECTIVETo evaluate the therapeutic effect of percutaneous vertebroplasty (PVP) guided by X-ray fluoroscopy in treating osteoporotic spinal compression fractures, hemangioma of vertebra and metastatic carcinoma of vertebra.

METHODSOne hundred and ninety patients with 275 diseased vertebra underwent PVP under the guidance of C-arm fluoroscopy (male 80, female 110, ranging in age from 53 to 91 years, with an average of 66 years). Bone marrow biopsy needle was inserted percutaneously via transpedicular way into the diseased vertebra. Polymethylmethacrylate (PMMA) was then injected into the diseased vertebra. Visual analogue scale (VAS), mobility and analgesic usage were evaluated pre-operation and 3 months after PVP.

RESULTSPVP was successful in 190 cases (275 vertebrae). VAS was tested by t test at 3 months after PVP (P < 0.05). Simultaneously, scale of patient's mobility and scale of analgesic usage was tested by rank sum test at 3 months after PVP (P < 0.05).

CONCLUSIONAs the mimimally invasive operation, PVP can alleviate pain in early time, avoid kinds of complications by shortening the patient's time in bed and have the characteristic of simply operative procedure and low expenses. It is an effective mini-invasive technique for osteoporotic spinal compression fractures, hemangioma of vertebra and metastatic carcinoma of vertebra.

Aged ; Aged, 80 and over ; Female ; Fluoroscopy ; Fractures, Compression ; surgery ; Humans ; Male ; Middle Aged ; Osteoporosis ; complications ; Polymethyl Methacrylate ; Postoperative Complications ; prevention & control ; Spinal Fractures ; surgery ; Spinal Neoplasms ; surgery ; Vertebroplasty ; adverse effects ; methods

OBJECTIVE: To investigate the application of dinucleotide STR locus in paternity testing. METHODS: Dinucleotide STR locus D6S261 was selected and the paternity testing blood samples were amplified using 200 random blood samples, 16 family samples and 193 paternity test samples. Data of the PCR products were collected by 3130XL Genetic Analyzer and the genetic parameters of population were calculated by PowerStats v12. RESULTS: Fifteen alleles and 50 genotypes were found and H, DP, PE and PIC were 0.850, 0.953, 0.695, and 0.820, respectively. The typing results of both family samples and paternity test samples were accord with the law of inheritance, which no mutation was discovered. CONCLUSION The genetic polymorphisms of D6S261 show good characteristics with low mutation rate and high stability. It can be an effective method to solve the indetermination caused by mutation in paternity testing if the stutter bands can be decreased.
Asian People/genetics* ; Base Sequence ; Forensic Genetics/methods* ; Gene Frequency ; Genotype ; Humans ; Microsatellite Repeats/genetics* ; Nucleotides/genetics* ; Paternity ; Polymerase Chain Reaction/methods* ; Polymorphism, Genetic

OBJECTIVE: To establish a multiplex STR genotyping method for autosomal STR and Y-STR loci in forensic biological practice. METHODS: Widely used autosomal STR loci and Y-STR loci were selected. A set of PCR primers was designed, and a 5-dye fluorescent labeled STR multiplex PCR reagent kit was developed. RESULTS: A kit was developed which can simultaneously detect 15 autosomal STR loci, 10 Y-STR loci, and an Amelogenin. CONCLUSION The 15 autosomal STR plus 10 Y-STR kit in combination with capillary electrophoresis method was used to STR genotyping with accurate and reliable results. The new one-step testing kit can potentially be widely used in forensic cases and DNA databank in the future.
Amelogenin ; Chromosomes, Human, Y/genetics* ; DNA Primers ; Databases, Nucleic Acid ; Forensic Genetics/methods* ; Genotype ; Genotyping Techniques/instrumentation* ; Humans ; Indicators and Reagents ; Microsatellite Repeats ; Multiplex Polymerase Chain Reaction

OBJECTIVETo investigate the association between genetic polymorphisms of inflammatory factors and susceptibility to coronary heart disease(CHD) in southern Chinese Han population.

METHODSUsing matrix-assisted laser desorption/ionization-time-of-flight mass spectrometry (MALDI-TOF-MS) method, the genotypes of five inflammatory factors (BRCA1-associated protein, a disintegrin and metalloproteinase 8, inter-alpha-trypsin inhibitor H3, interleukin-15, cyclooxygenase-2) were anaylzed in 283 CHD patients diagnosed by angiography and 176 controls.

RESULTSIn these inflammatory factors, the 270T/C and 90A/G polymorphisms of the BRAP gene showed a significant association with CHD. The allele and genotype frequencies of BRAP gene were consistent with those predicted by Hardy-Weinberg equilibrium (chi-square=0.878, P> 0.05; chi-square=0.776, P> 0.05, respectively). The frequencecies of 270C and 90G alleles in CHD patients was significantly higher than those of the control group (29.51% vs. 21.31%, P=0.006; 30.04% vs. 21.31%, P=0.004, respectively). Compared with 270TT and 90AA, 270CC and 90GG genotypes had a significantly increased CHD risk by Logistic regression analysis (OR=4.51, 95%CI: 1.41-14.45, P=0.011; OR=5.09, 95%CI: 1.60-16.26, P=0.006, respectively). This association was still signifcant after adjustment for the sex, age, smoke, hypertension, diabetes, plasma total cholesterol and low density lipoprotein levels. No evidence of association was found for other single nucleotide polymorphisms.

CONCLUSIONThe 270T/C and 90A/G polymorphisms in the BRAP gene may contribute to an increased risk of CHD among southern Chinese Han population.

Aged ; Coronary Disease ; genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Inflammation ; genetics ; Male ; Middle Aged ; Polymorphism, Single Nucleotide