Objective The purpose of this paper is to study PGM1 genotyping by PCR RFLP.Method 300 unrelated individuals of Han were genotyped using PCR RFLP. The target amplificaton products of extron 4 and 8 of PGM1 gene were digested by Bgl II and Nla III respectively.The digested DNA fragments were typed by PAGE.Result This PGM1 RFLP system can discriminate 9 genotypes with Dp of 0 7450 in Han population.Compared with conventional PAGIEF, 1+2- and 1-2+ cant be differentiated and the rare genotypes also cant be detected by this method.The advantage of this method was PGM1 genotyping successfully in bloodstains stored for 25 years and with 0 1ng genomic DNA.PGM1 RFLP method is useful for forensic identification.

Since the information supplied by the paternity testing of alleged parents was less than that of standard triplet parentage testing,so the paternity index (PI) calculating methods of standard triplet parentage testing was not suitable for calculating the PI value of alleged parents.In order to establish a more precise method for calculating PI value of alleged parents with STR typing results,the first thing is to summarize the standard triplet PI calculating formulas according to the Essen Mller theory.These formulas are 1/p,1/2p,1/p+q,1/2p+2q.This article reports a new PI calculating method in case of paternity testing of alleged parents.Compared with other methods,the new method for calculating Y value either considering random man and random female or considering the alleged father(mother)and random female(man).

DNA methylation is a post-replication modification that is predominantly found in cytosines of the dinucleotide sequence CpG. Epigenetic information is stored in the distribution of the modified base 5-methylcytosine. DNA methylation profiles represent a more chemically and biologically stable source of molecular diagnostic information than RNA or most proteins. Recent advances attest to the great promise of DNA methylation markers as powerful future tools in the clinic. In the past decade, DNA methylation analysis has been revolutionized by two technological advances--bisulphite modification of DNA and methylation-specific polymerase chain reaction (MSP). The methylation pattern of human genome is space-time specific, sex-specific, parent-of-origin specific and disease specific, providing us an alternative way to solve forensic problems.
Base Sequence ; CpG Islands/genetics* ; DNA/blood* ; DNA Fingerprinting/methods* ; DNA Methylation ; Epigenesis, Genetic ; Forensic Medicine/methods* ; Genetic Markers ; Genome, Human ; Humans ; Paternity ; Polymerase Chain Reaction/methods*

The prognostic value of phosphatidylinositol-4,5-bisphosphate 3-kinase,catalytic subunit alpha (PIK3CA) in patients with esophageal squamous cell carcinoma (ESCC) is controversial.We aimed to investigate the prognostic significance of PIK3CA mutation in patients with ESCC.EMBASE,PubMed,and Web of Science databases were systematically searched from inception through Oct.3,2016.The hazard ratios (HRs) and 95％ confidence intervals (CI) were calculated using a random effects model for overall survival (OS) and disease-free survival (DFS).Seven studies enrolling 1505 patients were eligible for inclusion of the current meta-analysis.Results revealed that PIK3CA mutation was not significantly associated with OS (HR:0.90,95％ CI:0.63-1.30,P=0.591),with a significant heterogeneity (I2=65.7％,P=0.012).Additionally,subgroup analyses were further conducted according to various variables,such as types of specimen,the sample size,technique and statistical methodology.All results suggested that no significant relationship was found between PIK3CA mutation and OS in patients with ESCC.For DFS,there was no significant association between PIK3CA mutation and DFS in patients with ESCC (HR:1.00,95％ CI=0.47-2.11,P=0.993,I2=73.7％).Publication bias was not present and the results of sensitivity analysis were very stable in the current meta-analysis.Our findings suggest that PIK3CA mutation has no significant effects on OS and DFS in ESCC patients.More well-designed prospective studies with better methodology for PIK3CA assessment are required to clarify the prognostic significance of PIK3CA mutation in ESCC patients.

OBJECTIVE: The genetic polymorphism of two STR loci, D20S85 and D6S477, were studied in 280 unrelated Chinese individuals in Wuhan. METHODS: The PCR amplified products were analyzed by PAGE and silver staining. RESULTS: 10 and 9 alleles were observed in these two STR loci, and the discriminating power (DP) were 0.9085 and 0.9127 respectively. No deviations from Hardy-Weinberg equilibrium were found. The two STR loci had been successfully applied to individual identification and paternity testing. CONCLUSION The results demonstrated that the two loci were useful for forensic identification.
Alleles ; Asian People/genetics* ; China ; Forensic Medicine ; Gene Frequency ; Humans ; Polymorphism, Genetic ; Tandem Repeat Sequences/genetics*

OBJECTIVE: PGM1 genotyping by PCR-SSCP analysis. METHODS: Amplified genome DNA from 156 unrelated Han individuals living in Wuhan, PCR products for exon 4 and exon 8 of PGM1 were then analyzed by SSCP to detect the genotypes. RESULTS: 2 alleles and 3 genotypes were detected in exon 4 and 8 respectively. The discrimination power was 0.7318. PCR-SSCP analysis was suitable for determination of PGM1 genotypes from old blood and semen stains. CONCLUSION PGM1 system typed by PCR-SSCP is useful for forensic identification.
Alleles ; Asian People/genetics* ; China ; DNA/genetics* ; Gene Frequency ; Genotype ; Humans ; Phosphoglucomutase/genetics* ; Polymerase Chain Reaction/methods* ; Polymorphism, Genetic ; Polymorphism, Single-Stranded Conformational ; Sensitivity and Specificity

This article review the application of chi-square test of various data handling methods and exact test in Hardy-Weinberg equilibrium testing of human genetic marker in population genetics. The importance of HWE-exact test in multiallelic system was emphasized, especially in the study of forensic VNTR and STR typing.
Alleles ; Chi-Square Distribution ; Forensic Medicine ; Gene Frequency ; Genetics, Population/methods* ; Genotype ; Humans ; Likelihood Functions ; Models, Genetic ; Models, Statistical

Nowadays, the injury in human mitochondrial DNA (mtDNA) is well known to accumulate in various tissues with age. It's significant to further investigate and then apply it to estimation of the age at parenchymas.
Aging/physiology* ; Base Pair Mismatch/genetics* ; DNA Damage/physiology* ; DNA Fragmentation/genetics* ; DNA, Mitochondrial/physiology* ; Gene Deletion ; Humans ; Polymerase Chain Reaction

OBJECTIVE: To establish a new method for single nucleotide polymorphism (SNP) typing based on allele specific PCR: fragment length discrepant allele specific PCR (FLDAS-PCR), and study the influence on specific extension by introducing a mismatch at the third or fourth 3'-terminal base of allele specific primers. METHODS: For SNP loci rs759117 and rs760887, two allele specific forward primers, with different length and a mismatch introduced at the third or fourth 3'-terminal base, and a public reverse primer were designed for SNP typing. The genotyping of SNP was determined by the two allele specific fragments different in size after polyacrylamide gel and silver staining. RESULTS: The different homozygote genotypes comprised a single band with different size respectively, and the heterozygote genotypes comprised two bands. Typing results were completely consistent with those by direct sequencing. Non-specific primer extension was decreased remarkably after introducing a mismatch at the third or fourth 3'-terminal base of allele specific primers, and the stringency of PCR reaction was cut down. CONCLUSION FLDAS-PCR is a simple, rapid and efficient new method for SNP typing. During FLDAS-PCR, specific primers with a mismatch at the third or fourth 3'-terminal base have more power to identify two alleles.
Alleles ; Base Pair Mismatch/genetics* ; DNA/genetics* ; DNA Primers ; Electrophoresis, Polyacrylamide Gel ; Genotype ; Humans ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide ; Sensitivity and Specificity ; Sequence Analysis, DNA/methods*

OBJECTIVETo investigate the early changes of the blue-on-yellow (B/Y) perimetry in patients with early primary open-angle glaucoma(POAG).

METHODSThirty-one cases (45 eyes) of POAG underwent the central 30 degrees field examination of B/Y as well as routine white-on-white (W/W).

RESULTNo significant difference of mean index deficiency (MD) between B/Y and W/W perimetry was detected (P>0.05). However, there were marked changes in index GHT (glaucoma hemisphere test) and more defect points in B/Y visual field than those in W/W (P<0.01).

CONCLUSIONB/Y perimetry might be more sensitive than W/W perimetry a potentially more and valuable method in detection of early POAG lesion.

Adult ; Female ; Glaucoma, Open-Angle ; diagnosis ; Humans ; Male ; Middle Aged ; Sensitivity and Specificity ; Visual Field Tests ; Visual Fields