Application of Familial Y-STR Haplotype Mismatch Tolerance in Genealogy Inference / 法医学杂志

OBJECTIVES@#To provide a guideline for genealogy inference and family lineage investigation through a study of the mismatch tolerance distribution of Y-STR loci in Chinese Han male lineage.@*METHODS@#Three Han lineages with clear genetic relationships were selected. YFiler Platinum PCR amplification Kit was used to obtain the typing data of 35 Y-STR loci in male samples. The variation of Y-STR haplotypes in generation inheritance and the mismatch tolerance at 1-7 kinship levels were statistically analyzed.@*RESULTS@#Mutations in Y-STR were family-specific with different mutation loci and numbers of mutation in different lineages. Among all the mutations, 66.03% were observed on rapidly and fast mutating loci. At 1-7 kinship levels, the number of mismatch tolerance ranged from 0 to 5 on all 35 Y-STR loci, with a maximum step size of 6. On medium and slow mutant loci, the number of mismatch tolerance ranged from 0 to 2, with a maximum step size of 3; on rapidly and fast mutant loci, the number of mismatch tolerance ranged from 0 to 3, with a maximum step size of 6.@*CONCLUSIONS@#Combined use of SNP genealogy inference and Y-STR lineage investigation, both 0 and multiple mismatch tolerance need to be considered. Family lineage with 0-3 mismatch tolerance on all 35 Y-STR loci and 0-1 mismatch tolerance on medium and slow loci can be prioritized for screening. When the number of mismatch tolerance is eligible, family lineages with long steps should be carefully excluded. Meanwhile, adding fast mutant loci should also be handled with caution.

Efficacy and safefy of Polymyxin B treatment for neutropenic patients suffering from refractory Gram-negative bacterial bloodstream infection / 中华血液学杂志

Objective: To assess the efficacy and safety of polymyxin B in neutropenic patients with hematologic disorders who had refractory gram-negative bacterial bloodstream infection. Methods: From August 2021 to July 2022, we retrospectively analyzed neutropenic patients with refractory gram-negative bacterial bloodstream infection who were treated with polymyxin B in the Department of Hematology of the First Affiliated Hospital of the Soochow University between August 2021 to July 2022. The cumulative response rate was then computed. Results: The study included 27 neutropenic patients with refractory gram-negative bacterial bloodstream infections. Polymyxin B therapy was effective in 22 of 27 patients. The median time between the onset of fever and the delivery of polymyxin B was 3 days [interquartile range (IQR) : 2-5]. The median duration of polymyxin B treatment was 7 days (IQR: 5-11). Polymyxin B therapy had a median antipyretic time of 37 h (IQR: 32-70). The incidence of acute renal dysfunction was 14.8% (four out of 27 cases), all classified as "injury" according to RIFLE criteria. The incidence of hyperpigmentation was 59.3%. Conclusion: Polymyxin B is a viable treatment option for granulocytopenia patients with refractory gram-negative bacterial bloodstream infections.

Clinical application and pharmacokinetic study of nanocarriers in drug delivery system / 药学学报

Nanotechnology has shown obvious advantages in the field of medical treatment and diagnosis. Through the encapsulation of nano carriers, drugs not only enhance the therapeutic effect and reduce toxic and side effects, but also become intelligent responsive targeted drug systems through the modification on the surface of nano carriers. However, due to the obstacles in relevant basic research, production conditions, cost, clinical trials, and the lack of pharmacokinetic research on various drug loading systems, few nano systems have been used in therapy. In order to solve the above problems, this paper reviewed and analyzed the research progress of nano carriers in drug delivery, including their auxiliary role and characteristics, types and functions, pharmacokinetics, application prospects and challenges.

Application Characteristics of Prescription Preparations for External Use in Chinese pharmacopoeia 2020 Edition / 中国实验方剂学杂志

ObjectiveTo analyze the clinical application characteristics of prescription preparations for external use in the Chinese pharmacopoeia 2020 edition （hereafter abbreviated as the Pharmacopoeia）. MethodThe topical functions， usage， dosage， dosage form， application method， and prescription of the preparations for external use in the Pharmacopoeia were analyzed. ResultThe Chinese pharmacopoeia 2020 edition includes a total of 138 prescription preparations for external use， the specific clinical usage， dosage， administration method， and efficacy evaluation of which remain unclear. These preparations can be used to treat a wide range of diseases. Specifically， the use in orthopedics and traumatology （36 preparations， accounting for 26.09%） is dominant， followed by that in internal medicine， surgery， and throat. The major application method is directly applying to the diseased area （35 preparations， 25.36%）. The main dosage forms are ointment （40 preparations， 28.99%） and powder （24 preparations， 17.39%） and others include liniments， suppositories， tinctures， and sprays. The clinical usage and dosage of these preparations are mostly unclear. Only 48 preparations （34.78%） are recorded with clear dosage and frequency of use， and 45 preparations （32.61%） have neither clear dosage nor frequency of use. The 138 prescription preparations for external use include 211 single medicines， of which 44 single medicines can be used alone. The single medicines are mostly used for heat clearing （48 preparations， 22.75%）. ConclusionThe Chinese pharmacopoeia 2020 edition （Volume I） records a large number of prescription preparations for external use， and the number shows an increasing trend. However， the usage， dosage， and efficacy evaluation criteria of these preparations remain to be improved and need in-depth research.

Pigmentation Phenotype Prediction of Chinese Populations from Different Language Families / 法医学杂志

Objective To predict the pigmentation phenotypes of Chinese populations from different language families, analyze the differences and provide reference data for forensic anthropology and genetics. Methods The HIrisPlex-S multiplex amplification system with 41 loci related to pigmentation phenotypes was constructed in the laboratory, and 2 666 DNA samples of adult males of 17 populations from six language families, including Indo-European, Sino-Tibetan, Altaic, Hmong-Mien, Tai-Kadai and Austro-Asiatic language families distributed in different regions of China were genotyped. The pigmentation phenotype category of each individual was predicted using the online prediction system （https://HIrisPlex.erasmusmc.nl/）, and then the output data were statistically analyzed. Results About 1.92% of the individuals of Asian-European admixed populations from Indo-European and Altaic language families had blue eyes and 34.29% had brown or gold hair. The phenotypes of the color of eyes and hair of other populations had no significant difference, all individuals had brown eyes and black hair. There were differences in skin color of populations of different language families and geographical areas. The Indo-European language family had the lightest skin color, and the Austro-Asiatic language family had the darkest skin color; the southwestern minority populations had a darker skin color than populations in the plain areas. Conclusion The prediction results of pigmentation phenotype of Chinese populations are consistent with the perception of the appearance of each population, proving the reliability of the system. The color of eyes and hair are mainly related to ancestral components, while the skin color shows the differences between language families, and is closely related to geographical distribution of populations.

Research Progress on Forensic Molecular Phenotyping in the Age of Precision Medicine / 法医学杂志

With the development of new technologies, such as whole genome sequencing and big data, many countries have constructed large cohorts as strategic resources for precision medicine study. Related studies have significantly promoted research progress in many fields, such as medicine and biology, creating the genetic testing industry. In the forensic field, characterization technologies for features, such as biogeographic ancestry, genetic genealogy and physical appearance have emerged and developed rapidly. Compared with traditional forensic DNA technology, the new technology can search for characteristics and provide clues, quickly becoming an important means to solve difficult cases such as cold cases and accumulated cases. This paper briefly reviews the current status of the construction of large cohorts at home and abroad, and the research progress of forensic molecular phenotyping in the context of precision medicine in the context of precision medicine.

From the "Out of Africa Theory" Study to the Application of "DNA Biogeographic Ancestry Inference" in Criminal Investigation / 法医学杂志

Genetic markers, such as single nucleotide polymorphism （SNP）, insertion/deletion （InDel）, were discovered and widely used with the development of whole genome sequencing and bioinformatics technology. The origin and genetic structure of the modern population had been gradually revealed from the perspective of genetics. The study on biogeographic ancestry inference in the field of forensic genetics emerged and developed rapidly, providing clues and scientific basis for the determination of investigation direction and for the narrow of the scope of investigation in the process of case investigation. This paper briefly reviews the research progress, inference methods and development trends of DNA ancestry inference technology.

Network Analysis of Y-STR in Six Ethnic Populations in Guangxi and Its Forensic Significances / 法医学杂志

Objective To explore the distribution of genetic structure of Y-SNP and Y-STR genetic markers in different ethnic groups and its application in forensic science. Methods SNaPshot minisequencing was used to detect the polymorphisms of 12 Y-SNP loci in 439 males from 6 ethnic groups, including Guangxi Han, Guangxi Jing, Guangxi Miao, Guangxi Yao, Guangxi Zhuang and Guangxi Dong. DNATyperTM Y26 kit was used to multiplex-amplify 26 Y-STR loci. The PCR products were analyzed by 3130xl genetic analyzer. The network analysis of Y-STR haplotype under the same Y-SNP haplogroup was analyzed by Network 5.0 software. Results Six haplogroups defined by 12 Y-SNP loci were detected in 6 ethnic groups, and 362 haplotypes were detected in 26 Y-STR loci. The haplotype diversity was 0.996 6. In the C haplogroup, the samples from Guangxi Yao, Guangxi Zhuang and Guangxi Dong were clustered on different branches; in the O1 haplogroup, those from Guangxi Zhuang, Guangxi Miao and Guangxi Jing were relatively independent and clustered separately; in the O2 haplogroup, some samples from Guangxi Miao and Guangxi Yao were gathered in a cluster. Conclusion Based on the Y-STR network analysis of samples with identical haplogroup of Y-SNP, some ethnic groups can be preliminarily distinguished, which could be used to infer male suspects' ethnic group through detecting their genetic markers left in the crime scene.

Genetic Polymorphism of Y Chromosome Haplogroup D-M174 in East Asian Populations / 法医学杂志

Objective To explore the genetic polymorphism of Y chromosome D-M174 haplogroup and sub-haplogroups in East Asia. Methods The samples of 1 426 unrelated male individuals from East Asia were collected, and then 7 Y chromosome haplogroup D-M174 and the Y-SNP of its sub-haplogroups were detected with mini-sequencing. The 22 Y-STR genotypes were detected with DNA Typer™ Y26 kit. The haplogroup was analyzed using direct counting method, heatmap, phylogenetic cluster and network graph cluster, and then distribution of genetic polymorphism and the clustering relation between populations and samples of Y chromosome D haplogroup were discussed. Results Haplogroup D-M174 were distributed mostly among Tibetans （40.96%）and Japanese （35.71%）, while less or none were distributed among the surrounding areas of Tibet and other areas. Conclusion The geographical distribution of Y chromosome D-M174 haplogroup in East Asian populations has significant characteristics.

Methylation-Based Age Estimation Model Construction and Its Effectiveness Evaluation / 法医学杂志

OBJECTIVES@#To screen the DNA methylation loci associated with the age of Han males in northern China and to construct an age estimation model.@*METHODS@#Twenty-one candidate methylation loci were screened. The DNA methylation levels of 476 blood samples from Chinese Han males were detected for 21 amplicons using EpiTYPER technology platform, and data on 153 DNA methylation loci were obtained.@*RESULTS@#After correlation analysis, 8 age-related DNA methylation loci were finally screened. CpG1, CpG2, CpG4, CpG7, CpG8 were located on TRIM59, RASSF5, Clorf132, CSNK1D, ELOVL2,CpG5, CpG6 on PDE4C, and CpG3 on chr17:21452808. Based on the 8 loci, 352 samples were used for model construction. A multivariate linear regression age estimation model was constructed （R2=0.93）, with mean absolute deviation （MAD） of 2.69 years old. When 109 samples were used for model validation, the MAD was 3.80 years old. The test was repeated 3 times in 15 new samples, with MADs of 4.08, 4.68 and 3.93 years old, respectively.@*CONCLUSIONS@#The age estimation model on Han males in northern China constructed in this study can be used to estimate the age of victims and suspects and to narrow the scope of investigation, and therefore has practical application value.

Efficacy and Safety of the Induction Therapy with Different Doses of Anthracyclines for Patients with Newly Diagnosed Acute Promyelocytic Leukemia / 中国实验血液学杂志

@#]Objective:To investigate the efficacy and safety of induction regimens containing arsenite, allo-transretinoic acid (ATRA) and anthracyclines of different doses as induction chemotherapy for acute promyelocytic leukemia (APL).@*METHODS@#The clinical data of 129 consecutive hospitalized newly diagnosed APL patients from January 2011 to December 2017 were collected and retrospectively analyzed. Sixty-six patients received arsenite, ATRA and anthracyclines of low doses (low dose group), while other 63 patients received arsenite, ATRA and anthracyclines of standard doses (standard dose group), the efficacy and safety were compared and analyzed in 2 groups.@*RESULTS@#There were no statistically significant differences in terms of age, sex, routine blood indexes,LDH level, bone marrow promyelocyte count,prognostic stratification between patients in two groups (P>0.05). During the treatment, WBC count peak and its time point were not significantly different between two groups (P>0.05). Both induction regimens showed good efficacy, the PML-RARα gene conversion rate from positive into negative, the 2-year overall survival rate and disease-free survival rate in the low-dose group were similar to those in the standard dose group(P＞0.05). The recovery time of neutrophils and platelets in the low-dose group was 0 d and 11 d, respectively, which were statistically  significantly shorter than those in the standard dose group (3 d,15 d) (both P=0.000). The median value of platelet and erythrocyte transfusion in the low-dose group was 6.9 U and 4.2 U, respectively, which were statistically significantly lower than that in the standard dose group (8.4 U,6.8 U) (P=0.037，0.000). And the inpatient time in the low and the standard dose groups were 30.98 and 30.71 days, respectively (P=0.770).@*CONCLUSION@#For newly diagnosed patients with APL, the efficacy was similar between induction therapy containing arsenite,ATRA and low dose anthracyclines and the induction therapy containing arsenite, ATRA and standard dose anthracyclines, however, the former appears even safer.

Modified Da-chai-hu Decoction regulates the expression of occludin and NF-κB to alleviate organ injury in severe acute pancreatitis rats / 中国天然药物

Modified Da-chai-hu Decoction (MDD), a traditional Chinese medicinal formulation, which was empirically generated from Da-chai-hu decoction, has been utilized to treat severe acute pancreatitis (SAP) for decades. The aim of the present study was to explore its potential organprotective mechanism in SAP. In the present study, rat SAP model was induced by retrograde injection of 3.5% sodium taurocholate into the biliopancreatic duct, MDD (23.35 g/kg body weight, twelve times the clinical dose) were orally given at 2 h before and 10 h after injection. At 12 h after model induction, blood was taken from vena cava for analysis of amylase, diamine oxidase (DAO), pulmonary surfactant protein-A (SP-A), and C-reactive protein (CRP). Histopathological change of pancreas, ileum and lung was assayed by H&E staining, myeloperoxidase (MPO) activity were determinated using colorimetric assay, and the expressions of occludin and nuclear factor-κB (NF-κB) were detected by real-time RT-PCR and western blot, respectively. In addition, the tissue concentrations of tumor necrosis factor-α (TNF-α), interleukin-1β (IL-1β), and monocyte chemoattractant protein-1 (MCP-1) were measured by enzyme-linked immunosorbent assay (ELISA). The results showed that in SAP rats, MDD significantly alleviated histopathological damage, depressed the MPO activity and the concentrations of TNF-α, IL-1β, and MCP-1 of pancreas, ileum and lung, and reduced the serum levels of amylase [(3283.4 ± 585.5) U·Lvs (5626.4 ± 795.1)U·L], DAO [(1100.1 ± 334.3) U·Lvs (1666.4 ± 525.3) U·L] and CRP [(7.6 ± 1.2) μg·mLvs (17.8 ± 3.8) μg·mL]. However, the serum SP-A concentration [(106.1 ± 16.6) pg·mLvs (90.1 ± 14.9) pg·mL] was elevated when treated SAP rats with MDD. Furthermore, MDD increased the occludin expression and reduced the NF-κB expression in pancreas, ileum and lung of SAP rats. Our findings suggested that MDD administration was an effective therapeutic approach for SAP treatment. It could up-regulate occludin expression to protect intercellular tight junction and down-regulate NF-κB expression to inhibit inflammatory reaction of pancreas, ileum and lung.

Age Estimation and Age-related Facial Reconstruction of Xinjiang Uygur Males by Three-dimensional Human Facial Images / 法医学杂志

OBJECTIVES@#To search age-correlated facial features and construct an age estimation model based on the three-dimensional （3D） facial images of Xinjiang Uygur males, and to structure individual face images of old age and young age.@*METHODS@#Pretreatment was performed to collect 105 3D facial images of Xingjiang Uygur males aged between 17-57 years by Artec Studio software. The facial images were transferred to high-density 3D dot matrix data by FaceAnalysis software, and each image could be represented with 32 251 vertexes. Central correction of the facial images was done and all the data were aligned to a standard coordinate frame by generalized Procrustes analysis （GPA）. The age estimation model was established by partial least square regression （PLSR）. Furthermore, the changes of age-correlated facial features were presented on the heat map of average face, and the reconstruction of facial images at different ages was performed based on this model.@*RESULTS@#With age, the average faces showed a series of changes including the nasolabial sulcus deepening, cheek sinking, cheekbone protruding and eye corner drooping. The Pearson correlation coefficient （r） between estimated age and chronological age was 0.71. The mean absolute deviation （MAD） of age estimation was 6.37 years. The results of age estimation in >30-40 years group showed a best accuracy （MAD=4.27 years）, and the deviations increased with age after 40 years. The composite facial images represented a significant result with age on facial morphological features and aging.@*CONCLUSIONS@#The results of this study reveal the age-correlated facial features and aging markers in Uygur population, which help to construct a reliable age estimation model.

Preparation and physicochemical properties of ultra-fine powder of Fritillaria unibracteata / 中草药

Objective The morphological and particle size distribution of Fritillaria unibracteata under different preparation conditions and the physicochemical property before and after grinding were studied, which provides the experimental basis for the particle size control and application of ultra-fine powder. Methods The single-factor experiment was carried out. The ultra-fine powder was prepared using ball milling method under different milling time, the weight ratio of ball to material, and rotating speed conditions. The powder morphology was observed by scanning electron microscopy. The particle size and particle size distribution of the powder was determined by laser particle size analyzer. The particle size, particle size distribution, expansion degree, total alkaloid content, and other properties of F. unibracteata powder before and after milling were compared. Results The optimum conditions for powder preparation were as follows: The grinding time was 0.5 h, the weight ratio of ball to material was 12:1, the rotating speed was 250 r/min. The volume average particle size of ultrafine powder was (26.92 ± 0.12) μm, and D90 was (45.15 ± 0.18) μm. After grinding, the particle size decreased, the particle size distribution became narrower, the expansion degree and angle of repose increased, the hygroscopicity of powder did not change significantly, the bulk density decreased, and the alcohol-soluble extract content and total alkaloid content increased greatly. Conclusion Moderate grinding can significantly reduce the size of F. unibracteata powder, improve the particle size distribution, increase the total alkaloid content, and help to improve bioavailability.

Assessment of Height Prediction Model Based on SNPs Loci / 法医学杂志

Objective To establish a height prediction model of Chinese Han male based on the reported 547 height-associated single nucleotide polymorphisms (SNPs) loci in Europeans, and assess its accuracy for height estimation. Methods The DNA typing was analyzed in 59 Han male samples of Shandong province by Affymetrix SNP Array 6.0 chip and HiSeq 4000 sequencing platform. Prediction model was established using 547 height-associated SNPs loci as predictors and weight allele sums (WAS) as com-puting method. The accuracy of height prediction model was analysed using receiver operating characteris-tic (ROC) curve and area under curve (AUC). Results There was no height-associated SNPs locus was found by genome-wide association studies. In present study, height prediction model was established by WAS and obtained an AUC of 0.67 (95％CI:0.53-0.90). Conclusion It has reference value for predicting the height of Han male in Shandong province by WAS model based on 547 SNPs loci, while it is still necessary to further promote the accuracy of the prediction model by screening more height-associated SNPs loci with population heterogeneity.

Xuebijing Injection () and Resolvin D1 Synergize Regulate Leukocyte Adhesion and Improve Survival Rate in Mice with Sepsis-Induced Lung Injury / 中国结合医学杂志

<p><b>OBJECTIVE</b>To investigate the effect of combined application of Xuebijing Injection ( , XBJ) and resolvin D1 (RvD1) on survival rate and the underlying mechanisms in mice with sepsisinduced lung injury.</p><p><b>METHODS</b>The cecal ligation and puncture (CLP) method was used to develop a mouse sepsis model. Specific pathogen free male C57BL/6 mice were randomly divided into 5 groups (n=20 each): sham, CLP, CLP+XBJ, CLP+RvD1 and CLP+XBJ+RvD1. After surgery, mice in the CLP+XBJ, CLP+RvD1 and CLP+XBJ+RvD1 groups were given XBJ (25 μL/g body weight), RvD1 (10 ng/g body weight), and their combination (the same dose of XBJ and RvD1), respectively. In each group, 12 mice were used to observe 1-week survival rate, while the rest were executed at 12 h. Whole blood was collected for flow cytometric analysis of leukocyte adhesion molecules CD18, lung tissues were harvested for observing pathological changes, and testing the activity of myeloperoxidase (MPO) and the expression of intercellular cell adhesion molecule 1 (ICAM-1).</p><p><b>RESULTS</b>Compared with the CLP group, the histopathological damage of the lung tissues was mitigated, MPO activity was decreased in the CLP+XBJ and CLP+RvD1 groups (P<0.05). In addition, the 1-week survival rate was improved, proportion of CD18-expressing cells in whole blood and ICAM-1 protein expression in lung tissue were decreased in the CLP+XBJ+RvD1 group (P<0.05 or P<0.01).</p><p><b>CONCLUSIONS</b>XBJ together with RvD1 could effectively inhibit leukocyte adhesion, reduce lung injury, and improve the survival rate of mice with sepsis.</p>

Correlation of Serum Concentration of Nilotinib with Clinical Efficacy in Patients with Chronic Myeloid Leukemia / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To investigate the correlation of the serum minimal concentrations (Cmins) of nilotinib(NIL) with the clinical efficacy and adverse events (AEs) in CML patients.</p><p><b>METHODS</b>A total of 54 patients were divided into two groups according to the dosage of nilotinib. 44 cases received dose of 600-800 mg/d were classified as group A; while 10 cases received dose of 400 mg/d as group B. The Cmins of nilotinib were determmined by liquid chromatography-tandem mass spectrometry.</p><p><b>RESULTS</b>Median Cmins of nilotinib in 54 patients was 1.71 (0.52-5.93) µg/ml. Cmins of nilotinib in group A and group B were 2.09± 1.21 µg/ml and 0.94± 0.27 µg/ml respectively, Cmins of group A was significantly higher than that of group B (P=0.001). In group A, 24 out of 44 cases obtained major molecular response (MMR) in 12 months, while 20 cases did not reach MMR in 12 months; the serum drug concentrations were 1.70± 0.75 µg/ml and 2.03± 0.82 µg/ml respectively, without statistically significant differences between these 2 subgroups(P=0.154). However, Cmins of nilotinib in patients with III-IV grade of adverse events were significantly higher than those in patients with 0-II grade of adverse events (3.09± 1.76 µg/ml vs 1.76± 0.68 µg/ml)(P=0.018). There was no statistic diffence in Cmins of nilotinib with MMR in 12 months of group A MMR 1.15± 0.27 µg/ml vs no MMR 0.83± 0.24 µg/ml(P=0.051). The MMR rate at 12 months in group A was 54.5%(24/44) and that in group B was 40%(4/10) (P=0.494). But the incidence of grade III-IV adverse events in group A was 29.5%(13/44), which was significantly higher than that of group B[0/10(0%)].</p><p><b>CONCLUSION</b>Cmins of nilotinib shows significant individual differences. The Cmins of nilotinib relate with the dosage and grade III-IV of adverse events. The lower dose of nilotinib may maintain a good therapeutic effect and significantly reduce the adverse events.</p>

Construction of a 15-plex Rapid STR Multiplex Amplification System / 法医学杂志

OBJECTIVE@#To establish a 15-plex rapid STR multiplex amplification system.@*METHODS@#Fourteen auto-chromosome loci and one sex-chromosome were selected to compare the situations of allelic losses and nonspecific amplication under different conditions. FastStart Taq DNA polymerase and DNA standard sample 9947A were used during amplification and optimization process.15-plex rapid STR amplification system was achieved by performing various experiments including selection of amplification conditions and the volume of DNA polymerase, adjustment of inter-locus balance, optimization of rapid amplification, screening of reaction buffers, selection of reaction volume, and a variety of additives.@*RESULTS@#Using 10 μL rapid PCR system, including 1 ng DNA templates, 0.4 μL polymerase and 10xFastStart high fidelity reaction buffer, a complete and well-balance DNA profile of 15 STR loci for standard genomic DNA was obtained in 32 minutes, without the allele drop-out and non-specific amplicons. Meanwhile, 5% glycerinum, 0.01% gelatin, 0.05% gelatin and 5 mmol/L ammonium sulfate could be used as the reactive additive during the amplification procedure.@*CONCLUSION@#The 15-plex rapid STR multiplex amplification system can be used to decrease reaction time and enhance sample throughput.

Efficiency of 27-plex single nucleotide polymorphism multiplex system for ancestry inference in different populations / 南方医科大学学报

<p><b>OBJECTIVE</b>To validate the efficiency of 27-plex single nucleotide polymorphism (SNP) multiplex system for ancestry inference.</p><p><b>METHODS</b>The 27-plex SNP system was validated for its sensitivity and species specificity. A total of 533 samples were collected from African, Southern Chinese Han, China's ethic minorities (Yi, Hui, Miao, Tibet, and Uygur), European, Central Asian, Western Asian, Southern Asian, Southeast Asian and South American populations for clustering analysis of the genotypes by citing 3 representative continental ancestral groups [East Asia (CHB), Europe (CEU), and Africa (YRI)] from HapMap database.</p><p><b>RESULTS</b>The system sensitivity is 0.125 ng. Twenty and six genotypes were detected in chimpanzee and monkeys, respectively. Except in rs10496971, no more products were found in other animals. The system was capable of differentiating intercontinental populations but not of distinguishing between East Asian and Southeast Asian population or between Southern Chinese Han population and Chinese Ethnic populations (Hui, Miao, Yi and Tibet). This system achieved a 100% accuracy for intercontinental population source inference for 46 blind test samples.</p><p><b>CONCLUSION</b>27-plex SNPs multiplex system has a high sensitivity and species specificity and can correctly differentiate the ancestry origins of individuals from African, European and East Asian for criminal case investigation. But this system is not capable of distinguishing subpopulation groups and more specific ancestry-informative markers are needed to improve its recognition of Southeast Asian and Chinese ethnic populations.</p>

Influence of HLA-E polymorphism on cytomegalovirus infection after HLA-matched hematopoietic stem cell transplantation / 中国实验血液学杂志

This study was aimed to explore the potential association of HLA-E polymorphism with the incidence of cytomegalovirus (CMV) infection after HLA-matched hematopoietic stem cell transplantation, 119 HLA-genoidentical sibling pairs for HLA-E polymorphism were analyzed, HLA-E DNA was amplified by polymerase chain reaction (PCR), and the amplified DNA products was also sequenced directly after purification to confirm the genotype. The results showed that the homozygous HLA-E*0101/0101 accounted for 20.17%, the homozygous HLA-E*0103/0103 accounted for 27.73%; heterozygous HLA-E*0101/0103 accounted for 52.10%; in homozygous HLA-E*0101/0101 group, 15 cases were infected with CMV and the CMV infection rate was 62.50%; in homozygous HLA-E*0103/0103 group, 16 cases were infected with CMV and the CMV infection rate was 48.48%; in heterozygous HLA-E*0101/0103 group 20 cases were infected with CMV and the CMV infection rate was 32.25%. As compared with the homozygous HLA-E*0101/0101 group, the CMV infection rate in HLA-E*0103 group displays statistical significance (P = 0.0295). The CMV infection rate occurred higher and its significance is statistical (P = 0.0074). It is concluded that the HLA-E gene polymorphism is associated with CMV infection after HLA-genoidentical bone marrow transplantation.