Short tandem repeats (STRs) have been widely used in forensic sciences such as stain analysis and paternity testing. Although most of STR typing could give the reliable and clear results, some unusual typing have been observed in forensic practice. The anomalous typing could result from a lot of causes, including DNA genetic variation, poor quality or quantity of DNA template, different typing system or method, nonspecific reaction in PCR or anomalous electrophoresis migration. The unusual results may disturb the right interpretation of STR typing.
DNA Fingerprinting/methods* ; Forensic Medicine/methods* ; Gene Frequency ; Genotype ; Humans ; Polymerase Chain Reaction/methods* ; Polymorphism, Genetic ; Tandem Repeat Sequences/genetics*

There are some human diseases associated with mitochondrial DNA genome defect. Now many studies think that: oxygen radical resulting from oxidative phosphorylation(OXPHOS) disorder caused by myocardium ischemia and the increased OXPHOS induction damage mitochondrial DNA. Chronic damage accumulations lead to mitochondrial DNA deletion or point mutation in the end which show mitochondrial DNA 5.0 kb or 7.4 kb deletion and point mutation at position C15452A in the cytochrome b gene; the conservative sequence mutation of tRNA gene such as A4300G, C4320T point mutation in the tRNA Ilegene, A3243G point mutation in the tRNA leu gene etc result in defective contractile proteins whose persistent and inefficient contraction may increase the myocardium's metabolic demands for ATP and leads to cardiac hypertrophy. In this article, we review the study on the association of mitochondrial DNA mutation with ischemic cardiomyopathy and hypertrophic cardiomyopathy.
Cardiomyopathy, Hypertrophic/genetics* ; DNA, Mitochondrial/genetics* ; Humans ; Myocardial Ischemia/genetics* ; Point Mutation

OBJECTIVETo study the relationship between gene p53 codon 72 polymorphism and pathological scar formation occurrence after caesarean section.

METHODSThe method of molecular beacon with real-time PCR was applied to detect gene polymorphism of p53 codon 72 in blood samples taken from 303 pregnant women (within a week after caesarea section). The clinical visits were taken 3 times for 12th to 18th months to ascertain clinical formation of pathological scar and its relationship to genotype of p53. The chi-square method was used to analyze the relationship of p53 gene polymorphism and abnormal scar formation occurrence by statistical software SPSS 13.0.

RESULTSTotal of 303 pregnant women were assayed. 30 patients were found with pathological scar by clinical visit in the total 303 pregnant women. The genotype frequencies of total three types (C/C, C/G and G/G) of p53 gene codon 72 in patients with pathological scar are significantly different from that of normal pregnant woman. The frequency of C/C genotype in patients are higher than that of normal pregnant women (P < 0.01). The frequency of C/C genotype in these patients with pathological scar is higher (46.7%, 14/30) than C/G (33.0%, 10/30, P < 0.01) or G/G (20%, 6/30) genotype (P < 0.01). The C allele frequency in the patients is 63.7%. It is also higher than G allele (36.7%, P < 0.01). The OR value is 2.30. Therefore the C allele of p53 gene codon 72 is a risk factor for pathological scar.

CONCLUSIONSThere was a certain relationship between p53 gene codon 72 C allele and pathological scar formation after caesarean section.

Alleles ; Cesarean Section ; Cicatrix ; genetics ; Codon ; Female ; Gene Frequency ; Genes, p53 ; Genotype ; Humans ; Polymorphism, Genetic ; Pregnancy ; Risk Factors

Alleles ; Amelogenin/genetics* ; Chromosomes, Human, Y ; Humans ; Male ; Sex Determination Analysis

This study was aimed to explore the effects of blocking B7/CD28 and CD40/CD154 co-stimulatory signals on immune function of sensitized mice', and provide the evidences of acquired immune tolerance for allogeneic bone marrow transplantation. The mice sensitized on 7 day before transplant were divided into 4 groups: (1)CTLA4Ig+ anti-CD154 isotype control IgG; (2)anti-CD154 +CTLA4Ig isotype control IgG; (3)CTLA4Ig and anti-CD154; (4)isotype control IgG of CTLA4Ig and anti-CD154. CTLA4Ig and anti-CD154 used in normal BALB/c mice as isotype control IgG. Each mouse in all groups received CTLA4Ig and anti-CD154 (or corresponding isotype control IgG) 500 µg respectively, and was injected via tail vein on 7 day before transplant. There were 5 mice in each group. The mice were sacrificed on day 0, then the number of CD19(+)CD69(+)B cells, CD44(high)/CD62L(high) and CD44(high)/CD62L(low)/- T cells were measured by flow cytometry. Changes of cytokines and sensitized antibody were tested by ELISA or flow cytometry. The results showed that the numbers of CD19(+)CD69(+)B cells were significantly increased in comparison with the normal group (P < 0.01) , whereas the numbers of cells were significantly decreased when blocking B7/CD28 or /and CD40/CD154 co-stimulatory signals (P < 0.01) . Blocking these 2 signals together displayed a synergistic effect (P < 0.01) . The central memory and effector T cells were defined as CD44(high)/CD62L(high) and CD44(high)/CD62L(low)/- respectively, those increased significantly after sensitized in comparison with those in normal group, whereas their numbers decreased when blocking B7/CD28 or/and CD40/CD154 co-stimulatory signals. Blocking these two signals together, displayed a synergistic effect (P < 0.01). Cytokines, IgG and IgM in all groups were not significantly different. Sensitizing antibody test showed that the fluorescence intensity of sensitized group significantly increased as compared with normal group, whereas fluorescence intensity of CTLA4Ig or/and anti-CD154 treated groups significantly decreased as compared with sensitized group (P < 0.01) . It is concluded that blocking the B7/CD28 or/and CD40/CD154 co-stimulatory signal can inhibit the cellular and humoral immune function, whereas blocking these two signals together displays a synergistic effect.
Animals ; B7-1 Antigen ; metabolism ; Bone Marrow Transplantation ; CD28 Antigens ; metabolism ; CD40 Antigens ; metabolism ; CD40 Ligand ; metabolism ; Immune Tolerance ; immunology ; Male ; Mice ; Mice, Inbred BALB C ; Mice, Inbred C57BL ; Signal Transduction ; Transplantation, Homologous

OBJECTIVETo investigate the changes of hepcidin and ferropotin 1 expression in murine model of iron overload.

METHODSThe murine model of iron overload was established, C57BL/6 mice were injected with iron dextran intraperitoneally (10 mg) every 3 days for 4 weeks. Blood routine, serum ferritin and pathological sections were tested at the appointed time-point respectively (before iron injection, 2 weeks and 4 weeks after treatment of iron injection). The serum hepcidin was assayed by enzyme-linked immunosorbent method. The expression of ferroportin 1 in bone marrow cells was detected by RT-PCR and Western blot, respectively. The labile iron pool of bone marrow cells was measured by flow cytometry.

RESULTSThe absolute number and percentage of reticulocytes in the iron-overloaded mice were significantly decreased along with the increase of iron injection times (r=-0.938, r=-0.947), while no significant change was found in the number of white blood cells, hemoglobin level and platelet count. The level of serum ferritin was increased along with increase of iron injection time (r=0.894). Iron overload was found in pathological sections of different organs. Furthermore, serum hepcidin was increased along with increase of iron injection time (r=0.957). RT-PCR and Western blot analyses showed that the expressions of ferroportin 1 at mRNA and protein level were increased in the murine model of iron overload (P<0.05). Labile iron pool in bone marrow cells was also found to be increased in the murine model of iron overload(P<0.05).

CONCLUSIONThe expressions of hepcidin and ferroportin 1 are increase in a murine model of iron overload, which may be contributed to the suppression effect on erythropoiesis in bone marrow.

OBJECTIVEImportant studies of cardiopulmonary resuscitation (CPR) techniques influence the development of new guidelines. We systematically reviewed the efficacy of some important studies of CPR.

DATA SOURCESThe data analyzed in this review are mainly from articles included in PubMed and EMBASE, published from 1964 to 2014.

STUDY SELECTIONOriginal articles and critical reviews about CPR techniques were selected for review.

RESULTSThe survival rate after out-of-hospital cardiac arrest (OHCA) is improving. This improvement is associated with the performance of uninterrupted chest compressions and simple airway management procedures during bystander CPR. Real-time feedback devices can be used to improve the quality of CPR. The recommended dose, timing, and indications for adrenaline (epinephrine) use may change. The appropriate target temperature for targeted temperature management is still unclear.

CONCLUSIONSNew studies over the past 5 years have evaluated various aspects of CPR in OHCA. Some of these studies were high-quality randomized controlled trials, which may help to improve the scientific understanding of resuscitation techniques and result in changes to CPR guidelines.

Cardiopulmonary Resuscitation ; methods ; Electric Countershock ; methods ; Epinephrine ; therapeutic use ; Humans ; Out-of-Hospital Cardiac Arrest ; prevention & control ; Temperature

This article review the advance in interpretation of mixed forensic stains using DNA profiling, including autosome STR profiling, sex profiling determined by PCR, Y-specific STR profiling, mitochondrial DNA profiling and single nucleotide polymorphism profiling. The statistics methods for mixed stain has also been reviewed.
Alleles ; Blood Stains ; Chromosomes, Human, Y/genetics* ; DNA/genetics* ; DNA Fingerprinting/methods* ; Female ; Forensic Medicine/methods* ; Humans ; Male ; Polymerase Chain Reaction ; Tandem Repeat Sequences

OBJECTIVE: To evaluate the diversity of combined paternity index (CPI) of multiple STR loci when different population allele frequencies was used to calculate the paternity index. METHODS: CPI of 13 CODIS (combined DNA index system) loci for 108 trio cases and 108 duo cases selected randomly were calculated by using five Chinese Han population allele frequencies, respectively. RESULTS: The CPI range for trio cases and duo cases were 2077.63-50897711626.46 and 25.12-2998685141, respectively. When different population allele frequencies were applied to the same case, the ratio of maximum CPI and minimum CPI, which was more than 100, for trio cases and duo cases were 20 cases (19.52%) and 13 cases (12.04%), respectively. CONCLUSION The variation of CPI value of the CODIS loci was obvious with different allele frequencies. To prevent the error causing by uncertain allele frequencies, a conservative CPI value should be calculated in paternity testing.
Alleles ; China ; DNA Fingerprinting ; Forensic Medicine ; Gene Frequency ; Genetics, Population ; Humans ; Paternity ; Tandem Repeat Sequences/genetics*

BACKGROUNDTargeted therapy for erectile dysfunction (ED) involves fewer screening tests and provides a variety of treatment choices for patients. Although the advantage of targeted therapy in diagnosis and therapy for ED has been recognized, the rational mode for oriented ED therapy has not been established. This study aimed to investigate targeted diagnosis and therapy for ED.

METHODSA total of 198 patients with ED were included in the study. After intracavernosal vasoactive agent injection was given, color Doppler flow imaging was performed and penile rigidity was classified as Schramek grade 5 (10 minutes duration), grade 4 (10 minutes duration), grade 3 and grade 2, defining four patient groups as group V (143 cases), group IV (23 cases), group III (18 cases), and group II (14 cases). Appropriate and acceptable treatment was recommended to patients according to erection grade.

RESULTSIn 198 patients with ED, the peak systolic velocity, end diastolic velocity, and resistance index in the cavernosal artery and dorsal artery and the flow velocity in the deep dorsal vein were not significantly different before injection (P > 0.05). After injection, peak systolic velocity, end diastolic velocity, and resistance index in the cavernosal artery were different among the four groups (P < 0.05). Between each two groups, the difference in resistance index was significant (P < 0.05). The statistical differences in other indexes were not significant (P > 0.05). Selective targeted therapy based on erection grade by color Doppler flow imaging improved the clinical satisfaction rate to 91.91% (182/198).

CONCLUSIONSBased on the routine diagnosis of ED, blood flow indexes in the cavernosal artery are measured by color Doppler flow imaging following minimally invasive intercavernosal injection, which is combined with the Schramek grade of erection. The most appropriate and acceptable treatment is recommended according to the different groups, which improves the clinical satisfaction of treatment for ED and is an ideal model of targeted diagnosis and treatment.

Adult ; Aged ; Erectile Dysfunction ; diagnosis ; diagnostic imaging ; Humans ; Male ; Middle Aged ; Ultrasonography, Doppler, Color ; methods ; Young Adult