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1.
Journal of Forensic Medicine ; (6): 557-563, 2023.
Article in English | WPRIM | ID: wpr-1009387

ABSTRACT

OBJECTIVES@#To explore the possibility of using human skin and oral microorganisms to estimate the geographic origin of an individual through the sequencing analysis of bacterial 16S rRNA gene.@*METHODS@#Microbial DNA was extracted from the palm and oral microorganisms of the Han population in Shanghai and Chifeng, Inner Mongolia, and the composition and diversity of the microbiota were analyzed by full-length 16S rRNA gene sequencing. Then, differential species were screened and a geographic location prediction model was constructed.@*RESULTS@#The compositions of palm and oral microorganisms between Shanghai and Chifeng samples were both different. The abundance and uniformity of palm side skin microorganisms were higher in Chifeng samples than in Shanghai samples, while there was no significant difference in oral microorganisms. Permutational multivariate analysis of variance (PERMANOVA) confirmed that th e β -diversity between the samples from the two places were statistically significant, and the coefficients of determination (R2) for skin and oral samples were 0.129 and 0.102, respectively. Through principal co-ordinates analysis (PCoA), the samples from the two places could be preliminarily distinguished. The predictive model had the accuracies of 0.90 and 0.83 for the geographic origin using the skin and oral samples, respectively.@*CONCLUSIONS@#There are differences in the compositions of palm and oral microbiota between Han populations in Shanghai and Chifeng. The prediction model constructed by the random forest algorithm can trace the unknown individuals from the above two places.


Subject(s)
Humans , China , DNA, Bacterial/genetics , Microbiota/genetics , RNA, Ribosomal, 16S/genetics , Skin/microbiology , Forensic Genetics , High-Throughput Nucleotide Sequencing , Mouth/microbiology
2.
Journal of Forensic Medicine ; (6): 465-470, 2023.
Article in English | WPRIM | ID: wpr-1009379

ABSTRACT

OBJECTIVES@#To explore the feasibility of genetic marker detection of semen-specific coding region single nucleotide polymorphism (cSNP) based on SNaPshot technology in semen stains and mixed body fluid identification.@*METHODS@#Genomic DNA (gDNA) and total RNA were extracted from 16 semen stains and 11 mixtures composed of semen and venous blood, and the total RNA was reverse transcribed into complementary DNA (cDNA). The cSNP genetic markers were screened on the validated semen-specific mRNA coding genes. The cSNP multiplex detection system based on SNaPshot technology was established, and samples were genotyped by capillary electrophoresis (CE).@*RESULTS@#A multiplex detection system containing 5 semen-specific cSNPs was successfully established. In 16 semen samples, except the cSNP located in the TGM4 gene showed allele loss in cDNA detection results, the gDNA and cDNA typing results of other cSNPs were highly consistent. When detecting semen-venous blood mixtures, the results of cSNP typing detected were consistent with the genotype of semen donor and were not interfered by the genotype of venous blood donor.@*CONCLUSIONS@#The method of semen-specific cSNPs detection by SNaPshot technology method can be applied to the genotyping of semen (stains) and provide information for determining the origin of semen in mixed body fluids (stains).


Subject(s)
Genetic Markers , Semen , Polymorphism, Single Nucleotide , DNA, Complementary/genetics , Body Fluids , RNA, Messenger/genetics , DNA , Saliva , Forensic Genetics/methods
3.
Journal of Forensic Medicine ; (6): 441-446, 2023.
Article in English | WPRIM | ID: wpr-1009375

ABSTRACT

OBJECTIVES@#To evaluate the forensic application value of an age estimation model based on DNA methylation in eastern Chinese Han population, and to provide a theoretical basis for exploring age estimation models suitable for different detection platforms.@*METHODS@#According to the 6 age-related methylation sites in the published blood DNA methylation age estimation models of Chinese Han population, the DNA methylation level of 48 samples was detected by pyrosequencing and next-generation sequencing (NGS). After submitting DNA methylation levels to the age estimation model, the DNA methylation ages were predicted and compared with their real ages.@*RESULTS@#The 6 DNA methylation sites in both detection techniques were age-related, with an R2 of 0.85 and a median absolute deviation (MAD) of 4.81 years when using pyrosequencing;with an R2 of 0.84 and MAD of 4.41 years when using NGS.@*CONCLUSIONS@#The blood DNA methylation age estimation model can be used under pyrosequencing and multi-purpose regional methylation enrichment sequencing technology based on NGS and it can accurately estimate the age.


Subject(s)
Humans , Aging/genetics , CpG Islands , DNA Methylation , East Asian People , Forensic Genetics/methods
4.
Asian Journal of Andrology ; (6): 281-285, 2023.
Article in English | WPRIM | ID: wpr-970995

ABSTRACT

The aim of this study was to explore the optimal timing of holmium laser enucleation of the prostate (HoLEP) in patients presenting benign prostatic hyperplasia (BPH) with lower urinary tract symptoms (LUTS). A retrospective analysis was conducted based on the perioperative and postoperative outcome data of 1212 patients who underwent HoLEP in Shanghai Ninth People's Hospital (Shanghai, China) between January 2009 and December 2018. According to the preoperative International Prostate Symptom Score (IPSS), all patients whom we analyzed were divided into Group A (IPSS of 8-18) and Group B (IPSS of 19-35). Peri- and postoperative outcome data were obtained during the 1-year follow-up. IPSS changes were the main postoperative outcomes. The postoperative IPSS, quality of life, peak urinary flow rate, postvoid residual, and overactive bladder symptom score (OABSS) improved significantly. The IPSS improved further in the group with severe LUTS symptoms, but the postoperative IPSS was still higher than that in the moderate LUTS group. OABSSs showing moderate and severe cases after follow-up were more frequent in Group B (9.1%) than in Group A (5.2%) (P < 0.05). There were no significant intergroup differences in the intraoperative American Society of Anesthesiologists or hospitalization expense scores, and the medication costs, as well as the total costs, were significantly higher in Group B. In this retrospective study, HoLEP was an effective treatment for symptomatic BPH. For patients with LUTS, earlier surgery in patients with moderate severity may result in a marginally better 12-month IPSS than that in men with severe symptoms.


Subject(s)
Male , Humans , Retrospective Studies , Prostatic Hyperplasia/surgery , Follow-Up Studies , Holmium , Quality of Life , China , Treatment Outcome , Lower Urinary Tract Symptoms/surgery , Laser Therapy , Lasers, Solid-State/therapeutic use
5.
Journal of Forensic Medicine ; (6): 72-82, 2023.
Article in English | WPRIM | ID: wpr-984183

ABSTRACT

With the improvement of DNA methylation detection techniques, studies on age-related methylation sites have found more age-specific ones across tissues, which improves the sensitivity and accuracy of age estimation. In addition, the establishment of various statistical models also provides a new direction for the age estimation of tissues from different sources. This review summarizes the related studies of age estimation based on DNA methylation from the aspects of detection technology, age-related cytosine phosphate guanine site and model selection in recent years.


Subject(s)
DNA Methylation , Forensic Genetics/methods , CpG Islands , Forensic Medicine
6.
Chinese Journal of Biologicals ; (12): 962-966, 2023.
Article in Chinese | WPRIM | ID: wpr-996566

ABSTRACT

@#Objective To analyze the epidemiological characteristics of measles in Jilin Province from 2013 to 2020.Methods Through the measles surveillance system of China Disease Prevention and Control Information System,a national health security information project,the measles incidence data of Jilin Province from 2013 to 2022 were collected,the measles incidence and incidence characteristics were analyzed by descriptive epidemiological method,while the virus was isolated and the genotype was identified at the same time.Results From 2013 to 2022,3 202 measles cases were reported in Jilin Province,and the reported incidence rates were 0. 57/100 000,9. 88/100 000,0. 71/100 000,0. 32/100 000,0. 12/100 000,0. 13/100 000,0. 13/100 000,0. 05/100 000,0. 05/100 000 and 0. 06/100 000,respectively.By age group,people aged 0 ~ 1,2 ~ 6,7 ~ 18,19 ~ 29,30 ~ 49 and over 50 years accounted for 42. 19%,10. 31%,6. 28%,14. 52%,24. 83% and 1. 87% of all the reported incidence cases,respectively,while among cases aged less than8 months,8 ~ 12 months,2 ~ 18 years and over 19 years,98. 49%,71. 34%,33. 33% and 39. 77% had no vaccination history,respectively. From 2013 to 2018,a total of 44 measles virus strains were obtained in the measles laboratory of Jilin Province,except for one vaccine strain A genotype,the rest were all H1a genotype,and no measles virus strain was obtained since 2019.Conclusion From 2013 to 2022,the reported incidence of measles in Jilin Province showed a downward trend year by year,while there is still a need to maintain the coverage of two doses of vaccination of measles containing vaccine. At the same time,adult measles vaccination should be strengthened,and the sensitivity of surveillance system should be improved to prevent measles outbreaks.

7.
Int. j. morphol ; 40(3): 851-854, jun. 2022. ilus
Article in English | LILACS | ID: biblio-1385663

ABSTRACT

SUMMARY: The plantaris muscle is located between the soleus and gastrocnemius muscles, within the posterior calf group. Due to degeneration and its loss of plantar-flexion function, the muscle is vestigial in human beings, but it retains clinical significance. Few cases of variation in the plantaris muscle have been reported, and this, therefore, appears to be rare. Nonetheless, absence of this muscle was identified via the dissection of a left lower limb (male), which also indicated the absence of an attachment in the usual position. The present report, which addresses such variation, may provide both inspiration and reference points for the clinical treatment of so-called "tennis leg", and for the use of plantaris muscle for the purposes of clinical, autologous graft repair.


RESUMEN: El músculo plantar se ubica entre los músculos sóleo y gastrocnemio, dentro del grupo posterior de la pierna. Debido a la degeneración y la pérdida de la función de flexión plantar, el músculo es un vestigio en los seres humanos, pero conserva su importancia clínica. Se han informado pocos casos de variación en el músculo plantar y, por lo tanto, esto parece ser raro. No obstante, se observó la ausencia de este músculo durante la disección de un miembro inferior izquierdo (masculino). El presente informe, que aborda dicha variación, puede proporcionar puntos de referencia para el tratamiento clínico de la llamada "pierna de tenista" y para el uso del músculo plantar con fines de reparación clínica con injerto autólogo.


Subject(s)
Humans , Male , Adult , Muscle, Skeletal/anatomy & histology , Anatomic Variation
8.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 79-85, 2022.
Article in Chinese | WPRIM | ID: wpr-940389

ABSTRACT

ObjectiveTo study the effect of Xianlian Jiedu prescription (XLJDP) on the activation of nuclear transcription factor-κB (NF-κB) signaling pathway induced by bromodomain-containing protein 4 (Brd4) in hypoxic microenvironment and to explore its mechanism in inhibiting the proliferation of colorectal cancer HT-29 cells. MethodThe human colorectal cancer HT-29 cells were cultured in a hypoxic incubator or normoxia incubator and treated with XLJDP at 0.8,1,1.2,1.6,3.2,6.4,and 12.8 g·L-1 for 48 h, respectively. Following the detection of cell vitality using methyl thiazolyl tetrazolium (MTT) colorimetry, the effects of XLJDP (1.25,2.5,and 5 g·L-1) on the cell mitochondrial membrane potential were determined using a fluorescent probe (JC-1), and the apoptosis of colorectal cancer HT-29 cells was detected by flow cytometry. The cell colony formation assay and 5-ethynyl-2'-deoxyuridine (EDU) staining were conducted to test the proliferation of colorectal cancer HT-29 cells. The Western blot was carried out to measure the expression levels of Brd4 and its downstream relevant proteins such as c-Myc and hexamethylene bisacetamide-inducible protein 1 (HEXIM1), as well as the effects of XLJDP on related proteins in the NF-κB signaling pathway. ResultCompared with the blank control group, XLJDP at 0.8,1,1.2,1.6,3.2,6.4,and 12.8 g·L-1 inhibited the vitality of colorectal cancer HT-29 cells (P<0.05 , P<0.01), with the median inhibitory concentration (IC50) under the hypoxic condition higher than that under the normoxia condition. Compared with the blank control group, XLJDP at 1.25,2.5,and 5 g·L-1 significantly decreased the mitochondria membrane potential, enhanced the apoptosis (P<0.05,P<0.01), and lowered the number of cell colonies and also the EDU-positive cells (P<0.05, P<0.01). The results of Western blot showed that compared with the blank control group, XLJDP at 1.25,2.5,and 5 g·L-1 down-regulated Brd4, c-Myc, p-NF-κB p65, and p-IκBα protein expression to varying degrees and up-regulated the expression of HEXIM1 (P<0.05, P<0.01). ConclusionIn the hypoxic microenvironment, XLJDP inhibits the proliferation of colorectal cancer HT-29 cells regulated by Brd4, which may be related to its inhibition of the activation of NF-κB signaling pathway.

9.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 72-78, 2022.
Article in Chinese | WPRIM | ID: wpr-940388

ABSTRACT

ObjectiveTo explore the effect of Xianlian Jiedu prescription (XLJDP) on the proliferation and glycolysis of human colorectal cancer HCT-116 cells and the underlying mechanism. MethodHCT-116 cells were cultured with XLJDP and then the survival rate was examined by methyl thiazolyl tetrazolium (MTT) assay. The effect on the HCT116 cell proliferation was detected by colony formation assay and 5-ethynyl-2′-deoxyuridine (EDU) incorporation assay. The amount of glucose consumed by HCT-116 cells was measured by glucose test kit, and the amount of produced lactic acid was determined by lactic acid test kit 48 h after the treatment with XLJDP. The expression of glycolysis-related proteins mammalian target of rapamycin (mTOR), phosphorylated mTOR (p-mTOR), glucose transporter 1 (GLUT1), and lactate dehydrogenase (LDHA) was detected by Western blot. ResultThe half-maximal inhibitory concentration (IC50) of XLJDP against HCT-116 cells was 6.82 g·L-1. Compared with the blank group, XLJDP (1.625, 3.25, 6.50 g·L-1) inhibited the proliferation of HCT-116 cells (P<0.05, P<0.01). Moreover, compared with the blank group, XLJDP (1.625, 3.25, 6.50 g·L-1) suppressed glucose uptake and lactic acid production in a dose-dependent manner (P<0.05, P<0.01). The expression of p-mTOR/mTOR, LDHA, and GLUT1 was down-regulated by XLJDP (P<0.05, P<0.01). ConclusionXLJDP can significantly inhibit the proliferation and the Warburg effect of glycolysis in colorectal cancer cells by regulating the mTOR signaling pathway and the down-regulating the expression of LDHA, GLUT1, and other key proteins and enzymes in glycolysis.

10.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 63-71, 2022.
Article in Chinese | WPRIM | ID: wpr-940387

ABSTRACT

ObjectiveTo analyze the transcriptome characteristics of Xianlian Jiedu prescription (XLJDP) in the intervention of colorectal carcinoma by high-throughput cDNA-sequencing (RNA-seq). MethodNinety male C57BL/6 mice were randomly divided into the control group, colorectal carcinoma due to dampness, heat, stasis, and toxin model group, and XLJDP group, with 30 mice in each group. Mice in the model group and XLJDP group were fed a high-fat diet and provided with azoxymethane and dextran sodium sulfate (AOM/DSS) for inducing colorectal carcinoma. Those in the XLJDP group were further treated with intragastric administration of 12.9 g·kg-1 XLJDP since the day of modeling for 112 days. The colorectal tissues were collected from each group 4 h after the last drug treatment and stained with hematoxylin-eosin (HE) and methylene blue for observing the pathological changes. The total RNA was extracted from colorectal tissues for RNA-Seq-based transcriptome profiling, followed by gene oncology (GO) and Kyoto encyclopedia of genes and genomes (KEGG) pathway enrichment analysis and the screening and verification of differentially expressed genes. ResultCompared with the model group, XLJDP significantly relieved the colorectal congestion and edema and decreased tumor number and volume in mouse colorectal tissues. The methylene blue staining results indicated that XLJDP significantly suppressed the development of aberrant crypt foci (ACF,P<0.01). As revealed by HE staining, XLJDP significantly alleviated the injury and dysplasia of colorectal tissues. Transcriptome analysis identified 615 differentially expressed genes (446 up-regulated and 169 down-regulated) between the model group and the blank group and 54 differentially expressed genes (29 up-regulated and 25 down-regulated) between the XLJDP group and model group. XLJDP mainly affected the expression of NIMA-related protein kinase 7 gene (Nek7, P<0.01), Mucin 16 (Muc16, P<0.01), SiahE3 ubiquitin protein ligase family member 3 (Siah3, P<0.01), regenerating islet-derived protein 3-gamma (Reg3g, P<0.01), RNA polymerase Ⅱ elongation factor-associated factor 2 (Eaf2, P<0.01), transforming growth factor‐alfa gene (TGF-α, P<0.05), secretoglobin family 1A member 1 (Scgb1a1, P<0.05), family with sequence similarity 227 member B (Fam227B, P<0.05), cytochrome P450 family 2 subfamily c polypeptide 40 (Cyp2c40, P<0.01), and ankyrin repeat and EF-hand domain containing protein 1 (Ankef1, P<0.05). Enrichment analysis showed that intestinal epithelial cell proliferation, metabolism of xenobiotics by cytochrome P450, and arachidonic acid metabolism signaling pathway were significantly enriched. ConclusionXLJDP is able to interfere with colorectal tumorigenesis and development due to dampness, heat, stasis, and toxin in mice, which has been proved by transcriptome analysis to be related to the regulation of metabolism-related pathways.

11.
Journal of Forensic Medicine ; (6): 763-773, 2022.
Article in English | WPRIM | ID: wpr-984169

ABSTRACT

In forensic physical evidence identification, the accurate identification of the individual origin and their body fluid composition of the biological samples obtained from the crime scene play a critical role in determining the nature of a crime. In recent years, RNA profiling has become one of the fastest developing methods for body fluids identification. Due to the characteristics of tissue or body fluid specific expression, various types of RNA markers have been proven to be promising candidate markers for body fluids identification in previous studies. This review summarizes the research progress of RNA markers in body fluids identification, including the RNA markers that have been effectively verified in current research and their advantages and disadvantages. Meanwhile, this review prospects the application of RNA markers in forensic medicine.


Subject(s)
Forensic Medicine/methods , Body Fluids/chemistry , RNA/analysis , Feces , Forensic Genetics , Semen/chemistry , Saliva/chemistry
12.
Journal of Forensic Medicine ; (6): 733-738, 2022.
Article in English | WPRIM | ID: wpr-984165

ABSTRACT

OBJECTIVES@#To investigate the genetic polymorphism of InDel loci in SifalnDel 45plex system in the Han population in Jiangsu Province and the Mongolian population in Inner Mongolia, and to evaluate the effectiveness of the system in forensic medicine.@*METHODS@#SifaInDel 45plex system was used for genotyping in blood samples of 398 unrelated individuals from the above two populations, and allele frequencies and population genetic parameters of the two populations were calculated respectively. Eight intercontinental populations in the gnomAD database were used as reference populations. The genetic distances between the two studied populations and eight reference populations were calculated based on the allele frequencies of 27 autosomal-InDels (A-InDels). The phylogenetic trees and multidimensional scaling (MDS) analysis diagrams were constructed accordingly.@*RESULTS@#Among two studied populations, the 27 A-InDels and 16 X-InDels showed no linkage disequilibrium between each other and the allele frequency distributions were in Hardy-Weinberg equilibrium. The CDP of the 27 A-InDels in two studied populations were all higher than 0.999 999 999 9, and the CPEtrio were all less than 0.999 9. The CDP of the 16 X-InDels in Han in Jiangsu and Mongolian in Inner Mongolia female and male samples were 0.999 997 962, 0.999 998 389, and 0.999 818 940, 0.999 856 063, respectively. The CMECtrio were all less than 0.999 9. The results of population genetics showed that the Jiangsu Han nationality, Inner Mongolia Mongolian nationality and East Asian population clustered into one branch, showing closer genetic relationship. The other 7 intercontinental populations clustered into another group. And the above 3 populations displayed distant genetic relationships with the other 7 intercontinental populations.@*CONCLUSIONS@#The InDels in the SifaInDel 45plex system have good genetic polymorphism in the two studied populations, which can be used for forensic individual identification or as an effective complement for paternity identification, and to distinguish different intercontinental populations.


Subject(s)
Humans , Phylogeny , Gene Frequency , Polymorphism, Genetic , Genetics, Population , Asian People/genetics , China , INDEL Mutation
13.
Journal of Forensic Medicine ; (6): 500-506, 2022.
Article in English | WPRIM | ID: wpr-984143

ABSTRACT

OBJECTIVES@#To study the genetic polymorphism and population genetic parameters of 16 X-STR loci in Xinjiang Uygur population.@*METHODS@#The Goldeneye® DNA identification system 17X was used to amplify 16 X-STR loci in 502 unrelated individuals (251 females and 251 males). The amplified products were detected by 3130xl genetic analyzer. Allele frequencies and population genetic parameters were analyzed statistically. The genetic distances between Uygur and other 8 populations were calculated. Multidimensional scaling and phylogenetic tree were constructed based on genetic distance.@*RESULTS@#In the 16 X-STR loci, a total of 67 alleles were detected in 502 Xinjiang Uygur unrelated individuals. The allele frequencies ranged from 0.001 3 to 0.572 4. PIC ranged from 0.568 8 to 0.855 3. The cumulative discrimination power in females and males were 0.999 999 999 999 999 and 0.999 999 999 743 071, respectively. The cumulative mean paternity exclusion chance in trios and in duos were 0.999 999 997 791 859 and 0.999 998 989 000 730, respectively. The genetic distance between Uygur population and Kazakh population was closer, and the genetic distance between Uygur and Han population was farther.@*CONCLUSIONS@#The 16 X-STR loci are highly polymorphic and suitable for identification in Uygur population, which can provide a powerful supplement for the study of individual identification, paternity identification and population genetics.


Subject(s)
Female , Humans , Male , DNA, Ribosomal , Ethnicity/genetics , Gene Frequency , Paternity , Phylogeny , Polymorphism, Genetic , Microsatellite Repeats , Chromosomes, Human, X/genetics
14.
Journal of Forensic Medicine ; (6): 360-366, 2022.
Article in English | WPRIM | ID: wpr-984128

ABSTRACT

OBJECTIVES@#To estimate the system efficiency of uncle-nephew relationship identification by increasing STR markers and adding reference samples based on the test results of simulated data and real samples, so as to provide references for selecting the appropriate number of STRs and reference samples for uncle-nephew relationship identification.@*METHODS@#Five common models of uncle-nephew relationship identification were constructed by adding different reference samples. In each model, the likelihood ratio (LR) for 10 000 pairs of uncle-nephew relationships and 10 000 pairs of unrelated individuals were simulated by detecting 19, 39 or 55 STRs, and the system efficiency at different thresholds was simulated. The samples of the Han population in Zhejiang were collected, and 55 autosomal STRs were obtained by using SiFaSTRTM 23plex kit, Goldeneye® DNA ID 22NC kit and AGCU 21+1 PCR amplification kit. When 19, 39 and 55 STRs were detected, the LR of each model and system efficiency under different thresholds were calculated and compared with the simulation results.@*RESULTS@#Under the same detection system, the calculated results of simulated data and corresponding true samples were basically consistent. In the same model, there was a positive correlation between the system efficiency of uncle-nephew relationship identification and the number of STRs detected. Moreover, the system efficiency of introducing relatives was higher than identifying only two individuals. The order of preference for the introduction of relatives was the full sibling (or mother) of the uncle and the full sibling (or mother) of the nephew.@*CONCLUSIONS@#The system efficiency of uncle-nephew relationship identification could be improved by increasing the number of STRs and introducing known relatives, which would provide the basis for selecting the most appropriate detection system and reference individuals in actual cases.


Subject(s)
Humans , DNA , DNA Fingerprinting , Microsatellite Repeats , Polymerase Chain Reaction , Siblings
15.
Journal of Forensic Medicine ; (6): 267-279, 2022.
Article in English | WPRIM | ID: wpr-984120

ABSTRACT

In recent years, more and more forensic genetics laboratories have begun to apply massively parallel sequencing (MPS) technology, that is, next-generation sequencing (NGS) technology, to detect common forensic genetic markers, including short tandem repeat (STR), single nucleotide polymorphism (SNP), the control region or whole genome of mitochondrial DNA (mtDNA), as well as messenger RNA (mRNA), etc., for forensic practice, such as individual identification, kinship analysis, ancestry inference and body fluid identification. As the most widely used genetic marker in forensic genetics, STR is currently mainly detected by capillary electrophoresis (CE) platform. Compared with CE platform, MPS technology has the advantages of simultaneous detection of a large number of genetic markers, massively parallel detection of samples, the polymorphism of sequence detected by NGS makes STR have the advantages of higher resolution and system efficiency. However, MPS technology is expensive, there is no uniform standard so far, and there are problems such as how to integrate MPS-STR data with the existing CE-STR database. This review summarizes the current status of the application of MPS technology in the detection of STR genetic markers in forensic genetics, puts forward the main problems that need to be solved urgently, and prospects the application prospect of this technology in forensic genetics.


Subject(s)
DNA Fingerprinting/methods , Forensic Genetics/methods , Genetic Markers , High-Throughput Nucleotide Sequencing/methods , Microsatellite Repeats/genetics , Polymorphism, Single Nucleotide , Sequence Analysis, DNA , Technology
16.
Journal of Forensic Medicine ; (6): 231-238, 2022.
Article in English | WPRIM | ID: wpr-984114

ABSTRACT

OBJECTIVES@#To construct a Felis catus STR loci multiplex amplification system and to evaluate its application value by testing the technical performance.@*METHODS@#The published Felis catus STR loci data were reviewed and analyzed to select the STR loci and sex identification loci that could be used for Felis catus individual identification and genetic identification. The fluorescent labeling primers were designed to construct the multiplex amplification system. The system was validated for sensitivity, accuracy, balance, stability, species specificity, tissue identity and mixture analysis, and investigated the genetic polymorphisms in 145 unrelated Felis catus samples.@*RESULTS@#Sixteen Felis catus autosomal STR loci and one sex determining region of Y (SRY) were successfully selected, and constructed a multiplex amplification system containing the above loci. The complete profile of all alleles could still be obtained when the amount of DNA template was as low as 0.25 ng. There was no specific amplification peak in other common animal samples. Population genetic surveys showed that total discrimination power (TDP) of the 16 STR loci was 1-3.57×10-20, the cumulative probability of exclusion (CPE) was 1-6.35×10-5 and the cumulative probability of matching was 3.61×10-20.@*CONCLUSIONS@#The Felis catus STR multiplex amplification system constructed in this study is highly sensitive, species-specific, and accurate in typing results, which can provide an effective solution for Felis catus species identification, individual identification and kinship identification in the field of forensic science.


Subject(s)
Animals , Humans , Alleles , Cats/genetics , Chromosomes, Human, Y , DNA Fingerprinting/methods , DNA Primers , Microsatellite Repeats/genetics , Polymerase Chain Reaction/methods , Polymorphism, Genetic
17.
National Journal of Andrology ; (12): 787-792, 2021.
Article in Chinese | WPRIM | ID: wpr-922158

ABSTRACT

Objective@#To evaluate the safety and clinical efficiency of holmium laser enucleation of the prostate (HoLEP) in the treatment of small-volume BPH (SBPH) complicated by severe lower urinary tract symptoms (LUTS).@*METHODS@#We retrospectively analyzed the clinical data on 82 cases of SBPH with severe LUTS treated by HoLEP from January 2017 to December 2018. The patients were aged (65.5 ± 7.6) years, with a mean prostate volume of <40 ml, a total IPSS of 24.8 ± 4.6, a QOL score of 5.2 ± 0.8, the maximum urinary flow rate (Qmax) of (7.6 ± 3.7) ml/s, and a mean PSA level of (1.8 ± 1.4) μg/L.@*RESULTS@#All the operations were successfully completed, the mean operation time averaging (30.2 ± 5.0) min, enucleation time (26.7 ± 5.6) min and comminution time (3.5 ± 1.1) min, and the enucleated tissue weighing (20.3 ± 4.9) g. After surgery, the bladders were irrigated for (3.5 ± 1.9) h, with (3.0 ± 1.7) L of rinse solution, and catheterization lasted (24.8 ± 9.7) h. Histopathology revealed moderate or severe lymphocytic infiltration in 69 cases (84.1%). At 6 months after operation, significant improvement was observed in the IPSS, QOL, Qmax and PSA level compared with the baseline (P < 0.05). To date, no urethral stricture-related reoperation was ever necessitated.@*CONCLUSIONS@#HoLEP is safe and effective for the treatment of SBPH complicated by severe LUTS and can be employed after adequate preoperative evaluation of the patient.《.


Subject(s)
Humans , Male , Lasers, Solid-State , Lower Urinary Tract Symptoms/surgery , Prostate/surgery , Prostatic Hyperplasia/surgery , Quality of Life , Retrospective Studies
18.
Journal of Forensic Medicine ; (6): 358-365, 2021.
Article in English | WPRIM | ID: wpr-985225

ABSTRACT

Objective To study the genetic polymorphism of whole mitochondrial DNA (mtDNA) genomes in She population in Zhejiang and to explore the maternal genetic structure of the She population. Methods Whole mtDNA genomes of 231 unrelated individuals from She population in Zhejiang Province were sequenced. The number of mutations and population genetics parameters such as, the haplotype diversity (HD), discrimination power (DP), and random match probabilities (RMP) were analyzed. The mtDNA haplogroups of Zhejiang She population were classified, and the maternal genetic relationships between She and nine other Chinese populations were estimated. Results In 231 Zhejiang She samples, 8 507 mutations (702 types) were observed and the samples were classified into 94 haplogroups. The HD, DP and RMP values were 0.998 6, 0.994 2 and 0.005 8, respectively. The lowest genetic differentiation degree (Fst=0.006 89) was detected between Zhejiang She population and southern Han population. Principal component analysis (PCA) and median-joining network analysis showed that the genetic distance of Zhejiang She population with Guangxi Yao, Yunnan Dai and Southern Han populations was relatively close, but the population still had some unique genetic characteristics. Conclusion The whole mtDNA genomes are highly polymorphic in Zhejiang She population. The Zhejiang She population contains complex and diverse genetic components and has a relatively close maternal genetic relationship with Guangxi Yao, Yunnan Dai and Southern Han populations. Meanwhile, Zhejiang She population has kept its unique maternal genetic components.


Subject(s)
Humans , Asian People/genetics , China , DNA, Mitochondrial/genetics , Ethnicity/genetics , Genetics, Population , Haplotypes , High-Throughput Nucleotide Sequencing , Polymorphism, Genetic
19.
Journal of Forensic Medicine ; (6): 187-191, 2021.
Article in English | WPRIM | ID: wpr-985207

ABSTRACT

Objective To assess the feasibility of the rbcL sequence of chloroplast DNA as a genetic marker to identify Cannabis sativa L. Methods The rbcL sequences in 62 Cannabis sativa L. samples, 10 Humulus lupulus samples and 10 Humulus scandens DNA samples were detected, and 96 rbcL sequences of the Cannabaceae family were downloaded from Genbank. Sequence alignment was performed by MEGA X software, the intraspecific and interspecific Kimura-2-Parameter (K2P) genetic distances were calculated, and the system clustering tree was constructed. Results The rbcL sequence length acquired by sequencing of Cannabis sativa L. and Humulus scandens were 617 bp and 649 bp, respectively, and two haplotypes of Cannabis sativa L. were observed in the samples. The BLAST similarity search results showed that the highest similarity between the sequences acquired by sequencing and Cannabis sativa L. rbcL sequences available from Genbank was 100%. The genetic distance analysis showed that the maximum intraspecific genetic distance (0.004 9) of Cannabis sativa L. was less than the minimum interspecific genetic distance (0.012 9). The results of median-joining network and system clustering tree analysis showed that Cannabis sativa L. and other members of the Cannabaceae family were located in different branches. Conclusion The rbcL sequence could be used as a DNA barcode for identifying Cannabis sativa L., and combined with comparative analysis of the rbcL sequence and system cluster analysis could be a reliable and effective detection method for Cannabis sativa L. identification in forensic investigation.


Subject(s)
Cannabis/genetics , Genetic Markers , Sequence Analysis, DNA
20.
Journal of Forensic Medicine ; (6): 91-98, 2021.
Article in English | WPRIM | ID: wpr-985200

ABSTRACT

The paternal inheritance characteristics of Y chromosome have been widely used in the forensic genetics field to detect the genetic markers in the non-recombining block, and used in the studies such as, genetic relationship identification, mixed stain detection, pedigree screen and ethnicity determination. At present, capillary electrophoresis is still the most common detection technology. The commercial detection kits and data analysis and processing system based on this technology are very mature. However, the disadvantages of traditional detection technology have gradually appeared with the rapid growth of bio-information amount, which promotes the renewal of forensic DNA typing technology. In recent years, next generation sequencing (NGS) technology has developed rapidly. This technology has been applied to various fields including forensic genetics and has provided new techniques for the detection of Y chromosome genetic markers. This article describes the current situation and application prospects of the NGS technology in forensic Y chromosome genetic markers detection in order to provide new ideas for future judicial practice.


Subject(s)
Humans , Chromosomes, Human, Y/genetics , DNA Fingerprinting , Forensic Genetics , Genetic Markers , High-Throughput Nucleotide Sequencing , Microsatellite Repeats , Technology , Y Chromosome
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