Sex Estimation of Han Adults in Western China Based on Three-Dimensional Cranial CT Reconstruction / 法医学杂志

OBJECTIVES@#To examine the reliability and accuracy of Walker's model for estimating the sex of Han adults in western China by using cranium three-dimensional (3D) CT reconstruction, and to study the suitable cranial sex estimation model for Han people in western China.@*METHODS@#A total of 576 cranial CT 3D reconstructed images from Hanzhong Hospital in Shaanxi Province from 2017 to 2021 were collected. These images were divided into the experimental group with 486 samples and the validation group with 90 samples. Walker's model was used by observer 1 to estimate the sex of experimental group samples. The logistic function applicable to Han people in western China was corrected by observer 1. The 90 samples in the validation group were scored and substituted into the modified logistic function to complete the back substitution test by observer 1, 2 and 3.@*RESULTS@#The accuracy of sex estimation of Han adults in western China was 63.2%-77.2% by applying Walker's model. The accuracy of modified logistic function was 82.9%. The accuracy of sex estimation through back substitution test by 3 observers was 75.6%-91.1%, with a Kappa value of 0.689 (P<0.05) for inter-observer consistency and 0.874 (P<0.05) for intra-observer consistency.@*CONCLUSIONS@#There are great differences in bone characteristics among people from different regions. The modified logistic function can achieve higher accuracy in Han adults in western China.

Polymorphism of KIR2DL4 gene among northern Chinese Han population / 中国输血杂志

【Objective】 To investigate the polymorphism of KIR2DL4 gene in northern Chinese Han population. 【Methods】 A total of 327 DNA samples were isolated by magnetic beads from unrelated individuals of northern Chinese Han population. The coding sequence (CDS) of KIR2DL4 were amplified using four pairs of KIR2DL4-specific PCR primers developed by our own KIR sequencing-based typing patent, and each exon of KIR2DL4 carried by the four PCR amplicons was then subjected to DNA Sanger sequencing in both directions. The genotype of each sample was assigned using the Assign 4.7 software. 【Results】 Among 327 individuals, 8 different kinds of KIR2DL4 alleles were detected, with observed frequencies ranked as KIR2DL4*00102 [77.1%(252/327)], *00501 [35.8%(117/327)], *011 [20.2%(66/327)], *00602 [12.5%(41/327)], *00801 [8.6%(28/327)], *00103 [4.9%(16/327)], *00503 [1.5%(5/327)] and *00504 [0.9%(3/327)]. In this study, the 10A type alleles which can encode a full membrane-bound receptor include 2DL4*00102, *00103, *00501, *00503, *00504 and *00602, whereas the 9A type alleles which produce truncated forms of receptor include 2DL4*00801 and *011. The observed frequencies for 10A and 9A type KIR2DL4 alleles were 97.6% (319/327) and 27.8% (91/327), respectively. The ratio of 10A to 9A type was 3.5: 1. The observed frequencies of KIR2DL4 alleles in northern Chinese Han population showed no significant difference compared with southern Chinese Han population (P>0.05). 【Conclusion】 The allelic diversity of KIR2DL4 elucidated in the present study can provide valuable data for KIR-associated disease studies and human evolution.

Study on Thalassemia in Han Population in Sanya of Hainan Province / 中国实验血液学杂志

OBJECTIVE@#To study the distribution characteristics of thalassemia genotype in Han Population in Sanya of Hainan Province.@*METHODS@#Gap PCR and reverse dot hybridization were used to detect and analyze the thalassemia gene in 572 suspected thalassemia carriers of Han Population in Sanya.@*RESULTS@#Among the 572 Han Population in Sanya, 271 cases of thalassemia gene abnormality were detected, among which 161 cases were founded to be carriers of α-thalassemia gene. A total of 9 genotypes were detected, in the following order of the detection rate was －－SEA/αα，－α3.7/αα，－α4.2/αα，－－SEA/－α3.7，－－SEA/－α4.2，－α4.2/－α4.2，－α3.7/－α4.2，－α3.7/－α3.7，－－SEA/－－SEA. Among them, the deletion type (－－SEA/αα) in southeast Asia was the most common, accounting for 66 cases. 99 cases of β-thalassemia were detected, there were 7 genotypes, all of which were heterozygous. The order of the detection rate was CD41-42/βN, IVS-II-654/βN, CD17/βN, CD71-72/βN, -28/βN, －29/βN, CD27-28/βN. Among them, CD41-42/βN was the most common, accounting for 51 cases. In addition, 11 cases of combined α and β thalassemia were detected. Five kinds of genotypes were checked out, the order of detection rate was －α3.7/αα composite CD41-42/βN, －－SEA/αα composite IVS-II-654/βN, －α4.2/－α4.2 composite CD41-42/βN, －α4.2/αα composite －29/βN , －－SEA/ －α4.2 composite CD41-42/βN.@*CONCLUSION@#Han Population in Sanya of Hainan Province is a high-risk population of thalassemia, the genotype characteristics are different from other areas with high incidence of thalassemia in China. The main type of α-thalassemia is the deficiency mutation of southeast Asia, while CD41-42 heterozygous mutation is the main type of β-thalassemia.

Establishment of a novel Chinese metastatic melanoma cell line and analysis of its biological characteristics / 中华皮肤科杂志

Objective:To establish a melanoma cell line derived from a Chinese female patient of Han nationality with metastatic melanoma, and to study its basic biological characteristics.Methods:Metastatic melanoma cells were isolated from axillary lymph nodes of a 17-year-old female patient with malignant melanoma, and subjected to culture in vitro to establish a cell line. Short tandem repeat (STR) genotyping was performed to compare the information about the cell line and its derived tissue, and to detect gene mutations; cell counting kit-8 (CCK8) assay was conducted to assess the cellular proliferative activity, and soft agar cloning assay to assess the anchorage-independent proliferation; karyotype analysis was performed to determine the number and structure of chromosomes; with the highly aggressive melanoma cell line A2058 and keratinocyte line HaCaT serving as controls, Transwell assay was conducted to detect differences in cell migratory and invasive abilities, cell immunofluorescence assay and Western blot analysis were performed to determine the protein expression of melanoma-specific markers HMB45, S100 and Melan-A; the tumorigenicity was evaluated in vivo in a tumor-bearing mouse model. Results:A melanoma cell line was successfully established and named ZJMM-45, which was cultured for more than 70 passages over a 1-year period, and showed a stable shape and proliferative activity. The cells were spindle-shaped or polygonal, and could produce melanin. STR matching analysis showed that the ZJMM-45 sample was 96% matched with the cryopreserved lymph node tissue of the patient, suggesting that they were from the same source. A tumor-related gene BRAF V600E mutation (c.1799T>A) was identified in the ZJMM-45 cell line; karyotype analysis revealed that ZJMM-45 cells had triploid chromosomes and abnormal structures. ZJMM-45 cells grew exponentially in vitro and reached a plateau-phase in growth on day 5; the cells grew clonally and formed colonies in agar, showing anchorage-independent and malignant proliferative activity. Cell immunofluorescence assay and Western blot analysis showed that both ZJMM-45 and A2058 cells expressed HMB45, S100 and Melan-A; Transwell assay revealed that the numbers of invasive and migratory ZJMM-45 cells (300 ± 14, 260 ± 14, respectively) were significantly higher than those of invasive and migratory A2058 cells (150 ± 6, 160 ± 19, t = 13.25, 11.76, respectively, both P < 0.001) . The tumor-bearing mouse experiment showed that all 5 nude mice developed tumors with an inner diameter of 1.0 cm after 4 weeks, and the tumors were histopathologically characterized by proliferating hyperchromatic melanoma cell nuclei and formation of small nests, which were similar to primary solid tumors. Conclusion:The metastatic melanoma cell line ZJMM-45 derived from a Chinese patient with melanoma was successfully constructed, which carried the BRAF V600E mutation and expressed melanoma-specific markers, and was characterized by rapid proliferation, invasion and metastasis in both in vivo and in vitro culture, as well as obvious tumorigenicity in the in vivo experiment.

Distribution of hypoxia inducible factor 3A gene rsl 1672731 and rs2072491 single nucleotide polymorphisms in Guangxi Han population / 解剖学报

Objective To study the distribution of hypoxia inducible factor ( HIF ) 3A gene single nucleotide polymorphisms ( SNPs ) in Guangxi Han population and compare their distribution differences with different populations. Methods We conducted SNPscan technique to detect the genotypes of rsl 1672731 and rs2072491 on 286 Guangxi Han population included in the study and statistically analyzed the genotype and allele frequency and the HapMap-CEU, HapMap- HCB, HapMap-JPT, HapMap-GIH and HapMap-MEX data differences. Results Three genotypes, AA, AG and GG, were found in rsl 1672731 of HIF3A, with frequency of 42.7%, 45. 5% and 11. 8%, respectively, the allele frequencies of A and G were 65.5% and 34.5%, respectively. Three genotypes of CC, CT and TT, were found for rs2072491 with frequency distributions of 47.6%, 43.0% and 9.4%, respectively, the allele frequencies of C and T were 69.1% and 30.9%, respectively. There was no significant differences in genotype and allele frequencies of rsl 1672731 and rs2072491 between different genders in Guangxi Han population (P>0. 05). However, compared with the typing data of CEU, HCB, JPT, GHI, TSI and MEX from human genome project (HapMap), the genotype and allele frequencies of rsl 1672731 and rs2072491 were not significantly different from those of HCB and JPT (P>0. 05). The genotype and allele frequencies of rsl 1672731 and rs2072491 were statistically different with the date of CEU, GIH, TSI and MEX published by the HapMap (P<0.05). Conclusion The polymorphisms of HIF3A gene rsl 1672731 and rs2072491 have differences on different populations.

Regional differences of anthropometric traits in Han population / 解剖学报

Objective To explore the regional differences of body anthropometric traits in the Han population. Methods From 2015 to 2019, thirty-one body anthropometric traits of three Han ethnic groups were measured from Nanning (Guangxi), Zhengzhou (He'nan), and Taizhou (Jiangsu). The gender and regional difference analysis of each trait, and the correlation analysis between age and traits were carried out. Based on the principal component analysis of individual data of body phenotypic traits, the traits with significant regional difference were extracted to finely describe the physical characteristics of the Han peoplpe in the three regions. Results Most of the anthropometric traits of the three Han populations were statistically different in gender and region, and there was a positive or negative correlation between certain traits and age. The result of principal component analysis based on individual data showed that there were obvious regional differences in body anthropometric traits of the Han people. The difference between the Han Chinese in Guangxi ( south of the Yangtze River ) with He ' nan ( north of the Huaihe River ) and Jiangsu was relatively large, and difference was relatively small between He ' nan and Jiangsu Han Chinese. Meanwhile the Han Chinese in Jiangsu had its own characteristics in part of the phenotypic traits, which could be distinguished from the Han Chinese in He ' nan. Conclusion The research on the body anthropometric traits confirmed that there were significant regional differences in Han population, and suggested that the Yangtze River might be the largest geographic barrier for the population migration and genetic exchange between the north and south population.

Association between self-reported snoring and hypertension among Chinese Han population aged 30-79 in Chongqing, China

BACKGROUND@#We aim to explore the association between self-reported snoring and hypertension among adults aged 30-79 in Chongqing, China.@*METHODS@#A total of 23,342 individuals aged 30-79 were included at baseline from August 2018 to January 2019, and the final sample size for the analysis was 22,423. Face-to-face interviews and physical examinations were conducted by trained investigators. Logistic regression was performed to study age-specific and gender-specific associations between snoring and hypertension.@*RESULTS@#Frequent snoring was associated with the risk of hypertension for each age and gender group, and the frequency of snoring was positively correlated with the risk for hypertension. For the three age groups (< 45, 45-59, ≥ 60), compared with the non-snoring group, those who snore often had a 64.5%, 53.3%, and 24.5% increased risk of hypertension (< 45: OR = 1.65, 95%CI 1.34-2.02; 45-59: OR = 1.53, 95%CI 1.37-1.72; ≥ 60: OR = 1.25, 95%CI 1.09-1.42), respectively. For men and women, those who snore often had a 46.8% and 97.2% increased risk of hypertension, respectively, than the non-snoring group (men: OR = 1.47, 95%CI 1.33-1.63; women: OR = 1.97, 95%CI 1.75-2.23).@*CONCLUSIONS@#People who snore frequently should pay close attention to their blood pressure levels in order to achieve early prevention of hypertension, particularly for snorers who are female and aged under 45; importance should be attached to their blood pressure control.

Polymorphisms of 19 Autosomal STR Loci in Sichuan Han Population and Their Forensic Application / 法医学杂志

Objective To investigate the allele distribution, population genetics parameters and genetic analysis of neighboring populations of 19 autosomal STR loci in Sichuan Han population, and to evaluate their forensic application value. Methods The Goldeneye?? DNA ID system 20A was used to perform multiplex PCR amplification and allelic gene typing of 19 STR loci in 1 201 unrelated Han individuals from Sichuan Province. Allele frequencies and population genetics parameters were calculated. The Nei's genetic distances between Sichuan Han population and 12 previously reported populations were analyzed. Multidimensional scaling and principal component analysis were carried out and phylogenetic trees were also constructed. Results The heterozygosity of 19 STR loci ranged from 0.617 0 to 0.915 1, their discrimination power ranged from 0.777 4 to 0.986 5, matching probability ranged from 0.013 5 to 0.222 6, polymorphism information content ranged from 0.546 4 to 0.910 5, probability of exclusion ranged from 0.311 8 to 0.826 3 （triplet） and from 0.197 9 to 0.712 1 （biplet）, and no significant deviations from Hardy-Weinberg equilibrium were observed. Based on the results of multidimensional scaling, principal component analysis and phylogenetic trees of the genetic distances between Sichuan Han population and the other 12 populations, Sichuan Han population was closest to Hubei Han population and was farthest to Xinjiang Uygur population. Conclusion The 19 autosomal STR loci showed a high polymorphism and discriminating ability in Sichuan Han population, which can provide a data foundation for personal identification, paternity test and population genetics study.

Association between TM6SF2 rs58542926 polymorphism and non-alcoholic fatty liver disease in Qingdao Han population and molecular mechanism / 解放军医学杂志

Objective To investigate the association between the TM6SF2 rs58542926 polymorphism and non-alcoholic fatty liver disease (NAFLD) in Qingdao Han Population, and the molecular mechanism of TM6SF2 167 locus polymorphism affecting lipid metabolism. Methods We genotyped a cohort of NAFLD patients (NAFLD group) treated in Qingdao Municipal Hospital from Octorber 2016 to November 2017 and 451 healthy controls (control group) matched for age and sex by polymerase chain reaction and direct sequencing. Distribution of genotypes and allele frequencies of TM6SF2 rs58542926 and the relative risk of NAFLD were assessed. In addition, we concentrated the lentivirus of TM6SF2-mutant type and TM6SF2-wild type and transfected into Hepa1-6 cells. The concentration of lipid indicators and the expressions of SREBP-1c mRNA and protein were determined. Results There were significant differences in the genotype and allele frequencies of TM6SF2 rs58542926 polymorphism between the NAFLD and control group (P<0.001). Carriers of T allele had significantly increased susceptibility to NAFLD (OR=2.327, 95%CI: 1.542-3.513, P<0.001). Total cholesterol (TC) and triglyceride (TG) contents of the TM6SF2-mutant type group were both increased to high levels when compared with the TM6SF2-wild type group (P<0.001). Furthermore, the expression levels of sterol regulatory element-binding transcription factor 1c (SREBP-1c) mRNAs and protein of the TM6SF2-mutant type group were significantly increased when compared with either of the TM6SF2-wild type group (P<0.001). Conclusions The TM6SF2 rs58542926 polymorphism is associated with risk of NAFLD in Qingdao Han Population. Furthermore, the mutant T allele at TM6SF2 167 locus may regulate the hepatic lipid metabolism through increasing the expression of SREBP-1c.

Association study of zinc finger ZBTB22 single nucleotide polymorphisms and schizophrenia in Han Chinese population / 上海交通大学学报（医学版）

Objective: To explore the association of zinc finger ZBTB22 gene single nucleotide polymorphisms (SNPs) and schizophrenia in Han Chinese population. Methods: A case-control study was designed by genotyping four SNPs (rs3130100, rs1061783, rs1061801 and rs3130099) in 658 schizophrenia patients and 658 healthy controls of Chinese Han origin. SHEsis was used to analyze genotypic and allelic distributions, linkage disequilibrium and haplotype distribution. Results: rs3130100, rs1061783, and rs3130099 showed significant differences between the cases and controls in allele frequencies (P<0. 05 after Bonferroni correction), but no statistically significant differences were found in genotype frequencies after Bonferroni correction. Strong linkage disequilibrium was found among the four SNPs, and the frequency of haplotype TCGA significantly decreased in the schizophrenia patients (P=0.015 after Bonferroni correction). Conclusion: The ZBTB22 SNPs rs3130100, rs1061783 and rs3130099 may be associated with schizophrenia in Han Chinese population.

Effects of NOS1AP rs12742393 Polymorphism on Therapeutic Efficacy of Repaglinide in the Treatment of Type 2 Diabetes Mellitus in Chinese Han Patients / 中国药房

OBJECTIVE:To investigate the effects of NOS1AP rs12742393 polymorphism on therapeutic efficacy of repaglinide in the treatment of type 2 diabetes mellitus(T2DM)in Chinese Han patients. METHODS:A total of 100 newly-diagnosed T2DM Han patients without any hypoglycemic therapy were selected from the Affiliated Hospital of Xuzhou Medical University during Aug. 2015-Mar. 2017. Based on routine therapy,they were additionally given Repaglinide tablets 1.0 mg,tid,for consecutive 8 weeks at least. PCR-RFLP was used to detect the genotypes at NOS1AP rs12742393 in patients. The levels of FPG,PPG,HbA1c, FINS,PINS,HOMA-IR,TC,TG,HDL-C and LDL-C were observed before and after treatment. RESULTS:There were 1 case of withdrawal and 1 case of follow-up loss,and 98 patients accomplished the study. There were 39 cases of NOS1AP rs12742393 AA genotype,42 cases of AC genotype and 17 cases of CC genotype,the frequency of them were 39.8％,42.9％,17.3％,which were in line with Hardy-Weinberg equilibrium (P>0.05). After 8 weeks,the levels of FPG,PPG,HbA1c,HOMA-IR,TC and TG were decreased significantly,compared with before treatment;the levels of FINS and PINS were increased significantly, compared with before treatment,with statistical significance (P<0.05). Before treatment,there was no statistical significance in each index among different genotypes (P>0.05). After treatment,the levels of FPG,PPG and HbA1c in all genotypes,the level of HOMA-IR in AA genotypes,the level of TC in CC genotype,the level of TG in AA and CC genotype were decreased significantly;the level of PINS in all genotype,the level of FINS in AC and CC genotype and the level of HOMA-IR in CC genotype were increased significantly;the levels of FPG and PPG in CC genotype were significantly higher than AA and AC genotype,and the decrease of two indexes than before treatment were significantly less than AA and AC genotype;the level of FPG in AC genotype was significantly higher than AA genotype;the level and increase than before treatment of FINS,and the level of HOMA-IR in AC and CC genotype was significantly higher than AA genotype;there was statistical significance in the change than before treatment of HOMA-IR among all genotypes (P<0.05). There was no statistical significance in other indexes among all groups before and after treatment(P>0.05). CONCLUSIONS:NOS1AP rs12742393 polymorphism may influence therapeutic efficacy of repaglinide in the treatment of T2DM in Chinese Han patients,and risk gene C may weaken therapeutic efficacy of repaglinide by influencing the levels of FPG,PPG,FINS and HOMA-IR.

Relationship between HLA-B*5801 Gene Polymorphism and Allopurinol-induced ADR in Han Population of Hainan Province / 中国药房

OBJECTIVE:To investigate the relationship between HLA-B*5801 gene polymorphism and allopurinol-induced ADR in the Han population of Hainan Province. METHODS:The in-situ hybridization fluorescence staining analysis technique was used to detect HLA-B*5801 allele of 149 inpatients receiving allopurinol in Hainan Provincial People's Hospital during Sept. 2015-Sept. 2017.They were divided into tolerance group and ADR group according to ADR.Woolf's formula was used to calculate OR. The correlation of HLA-B*5801 allele with the occurrence of allopurinol-induced ADR was analyzed. RESULTS:Of 149 patients,there were 133 cases in tolerance group,among which 17.29%(23/133)carried HLA-B*5801 allele.There were 16 cases in ADR group,among which 93.75%(15/16)carried HLA-B*5801 allele. Among 16 ADR patients,13 patients suffered from lesion of skin and its appendents;1 patient suffered from systemic damage;1 patient suffered from gastrointestinal systemic damage;1 patient suffered from central and peripheral nervous system damage. The risk of ADR in patients with HLA-B*5801 allele was significantly higher than patients without HLA-B*5801 allele(OR:71.74,95%CI:9.02-570.55,P<0.000). The lesion of skin and its appendents was strongly associated with HLA-B*5801 allele(OR:57.39,95%CI:7.11-463.50,P<0.000). CONCLUSIONS:HLA-B*5801 allele is strongly associated with allopurinol-induced ADR. It is suggested that HLA-B*5801 allele of Han patients should be detected before taking allopurinol,which helps to reduce the incidence of allopurinol-induced ADR.

RelationshipbetweenHTRA1 polymorphism and genetic susceptibility of wet age-related macular degeneration in Han population / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To investigate the relationship between high temperature essential factor A-1(HTRA1) polymorphism and genetic susceptibility of wet age-related macular degeneration (AMD) in Han population. METHODS: Totally 201 patients of wet AMD in Han population were selected from May 2014 to January 2017 in our hospital as disease group,and 201 healthy persons of Han were selected as health group. Blood samples of peripheral vein were collected and genomic DNA was extracted. HTRA1 polymorphism loci were detected,and the rs11200638 and rs2248799 loci of HTRA1 gene were detected by Sequenom mass spectrometry platform. Then the relationship between HTRA1 polymorphism and genetic susceptibility of wet AMD were analyzed. RESULTS: The grade distributions of the genotype of the rs11200638 and rs2248799 loci in the two groups subjects had significant differences (P<0.01), and the frequencies of AA and TT in the disease group were respectively 51.2% and 57.7%,of which the health group were respectively 20. 9% and 28. 4%, and the former were significantly higher than the latter, with significant differences (P<0.01). The frequencies of risk allele A of rs11200638 loci and risk allele T of rs2248799 loci in the disease group were respectively 69.7% and 73.6%, of which the health group respectively were 45. 8% and 52 5%, and the former were significantly higher than the latter, with significant differences (P<0. 01). The OR values of rs11200638 genotype AA and AG were respectively 5.36 and 3.45,which were the risk factors of wet AMD (P < 0. 01). The OR values of rs2248799 genotype TT and TC were respectively 2.36 and 1.98, which were the risk factors of wet AMD (P<0.01). CONCLUSION: The rs11200638 and rs2248799 polymorphisms of HTRA1 gene are associated with the incidence of wet AMD,and the genotype AA and TT are closely related to the risk of wet AMD in Han population, of which the higher frequencies can increase the risk of wet AMD.

Genetic Polymorphisms of 18 Autosomal STR loci in Changsha Han Population / 法医学杂志

OBJECTIVES@#To investigate the genetic polymorphisms of 18 autosomal short tandem repeats （STR） loci in Changsha Han population, and explore the population genetic relationships and evaluate its application value in forensic medicine.@*METHODS@#The DNA of 2 004 unrelated individuals in Changsha Han population were amplified using Goldeneye®DNA ID System BASIC, and the PCR products were analyzed by electrophoresis using 3130xl genetic analyzer. The fragment sizes of alleles were analyzed subsequently by GeneMapper® ID v3.2. The frequency data and forensic genetic parameters ［observed heterozygosity （Ho）, expected heterozygosity （He）, power of discrimination （DP） and polymorphic information content （PIC）］ of 18 STR loci were statistically analyzed. Total probability of discrimination （TDP）, probability of exclusion in trio cases （PEtrio） and probability of exclusion in duo cases （PEduo） were calculated by Cervus 3.0. Hardy-Weinberg equilibrium and linkage disequilibrium of the loci were detected by Arlequin v3.5. The results were compared with the available data of other populations from different races and regions.@*RESULTS@#The power of discrimination （DP）, and the polymorphic information content （PIC） of each locus of Changsha Han population ranged from 0.783 6 to 0.987 9 and 0.549 4 to 0.914 5, respectively. The TDP, cumulative probability of exclusion in trio cases （CPEtrio） and cumulative probability of exclusion in duo cases （CPEduo） were 0.999 999 999 999 999 999 999 865 2, 0.999 999 979 and 0.999 988 325, respectively. According to the Nei's DA genetic distance, the genetic distance between Changsha Han and Hunan Han populations was the smallest （0.014 1）, while it was the largest （0.041 8） between Changsha Han and Xinjiang Kazakh populations.@*CONCLUSIONS@#The 18 STR loci shows abundant genetic polymorphisms in Changsha Han population. The study of genetic diversity among different populations has an important meaning for the research of their origins, migrations and their relationships.

Genetic Polymorphisms of 19 STR Loci in Populations of Three Culture Region in Shandong / 法医学杂志

OBJECTIVES@#To analyse the genetic polymorphisms of 19 autosomal STR loci in Han population of east, middle-northwest and southwest-south Shandong and to explore its genetic relationships among the population of these three regions.@*METHODS@#STR loci of 1 044 unrelated Han individuals in three Shandong regions were typed with a Goldeneye® DNA ID System 20A kit. The allele frequency and population genetics parameters of 19 autosomal STR loci were statistically analysed by Modified-Powerstates software. The genetic distances among the population in three regions were calculated by Arlequin v3.5 software. The phylogenetic tree was conducted using MEGA v4.0 software.@*RESULTS@#Fifteen of 19 autosomal STR loci were detected with the H values greater than 0.7, PIC values greater than 0.7, and DP values greater than 0.9 in the populations of all three Shandong regions. Among the populations in these three regions, the genetic distance between the populations in middle-northwest and southwest-south Shandong was closest （Fst=0.000 16）, followed by east and southwest-south Shandong （Fst=0.0003 6）. The genetic distance between the populations in east and middle-northwest Shandong was the farthest （Fst=0.000 66, P<0.05）.@*CONCLUSIONS@#The 19 autosomal STR loci show good genetic polymorphisms in Han population of three Shandong regions, and 15 of them are high. There are genetic differences between the populations in east and middle-northwest Shandong.

Cable Pin System versus K-wire Tension Band Fixation for Patella Fractures in Chinese Han Population: A Meta-analysis / 华中科技大学学报（医学）（英德文版）

This meta-analysis compared the therapeutic effect of cable pin system (CPS) with K-wire tension band (KTB) in the treatment of patella fractures among Chinese Han population.The databases of PubMed,Cochrane library,China National Knowledge Infrastructure (CNKI),Chinese WanFang and Chinese VIP were searched for studies on CPS versus KTB in the treatment of patella fractures among Chinese Han population.Literatures were screened according to the inclusion and exclusion criteria.The quality of the studies was assessed,and meta-analysis was performed using the Cochrane Collaboration's REVMAN 5.3 software.A total of 932 patients from 15 studies were included in this meta-analysis (426 fractures treated with CPS and 506 fractures treated with KTB).There were significant differences in duration of hospital stay [mean difference (MD)=-1.07;95％ confidence interval (CI):-1.71 to-0.43],fracture healing time (MD=-l.23;95％ CI:-1.68 to-0.77),flexion degree of knee joint at 6th month after operation (MD=14.82;95％ CI:10.93 to 18.71),incidence of postoperative complication [risk ratio (RR)=0.16;95％ CI:0.09 to 0.27] and excellent-good rate of B(o)stman score (RR=1.09;95％ CI:1.03 to 1.16) between the CPS group and KTB group,while no significant difference was found in operative time between the two groups (MD=-4.52;95％ CI:-11.70 to 2.67).For the treatment of patella tractures among Chinese Han population,limited evidence suggests that the CPS is more suitable than the KTB when considering the hospital stay,fracture healing time,flexion degree of knee at 6th month after operation,incidence of postoperative complication and excellent-good rate of B(o)stman joint score.Due to the limitation of high quality evidence and sample size,more large-scale randomized controlled trials are needed to validate the findings in the future.

Association between Q-1 and T1 locus polymorphism in ADAM33 gene and chronic obstructive pulmonary disease in Han population in northern Guizhou / 实用医学杂志

Objective To explore the association between Q-1 and T1 locus polymorphism in ADAM33 gene and chronic obstructive pulmonary disease in Han population in northern Guizhou by detecting Q-1 and T1 locus polymorphism in ADAM33 gene in patients with COPD in the distribution of frequency ,provide a theoretical basis for the prevention and treatment of COPD. Methods Polymerase chain reaction and DNA sequencing tech-nology,electrophoresis separation method were applied to detect Q-1 and T1 locus polymorphism in ADAM33 gene. Results The genotype distribution of Q-1 and T1 locus in the case group and the control group of ADAM33 gene were in accordance with the Hardy-Weinberg equilibrium law and ADAM33 gene Q-1,T1 locus were C and T alleles. There was no significant difference in genotype and allele frequency distribution between the case group with control group,and COPD complicated with chronic respiratory failure(COPD)and hypoxemia(P > 0.05). T1(83 bp,112 bp)at a high probability of two heterozygous in the same samples(18/19),and is located in the encoding region. Conclusion No association was found between Q-1,T1 locus polymorphism in ADAM33 gene and chronic obstructive pulmonary disease in Han population in northern Guizhou.

Quantitative Estimation of Blood Concentration of Lamotrigine in Chinese Han Pediatric Patients with Epi-lepsy Based on UGT1A4142T>G Polymorphism and Blood Concentration of Valproic Acid / 中国药房

OBJECTIVE:To investigate the effects of UGT1A4142T>G polymorphism and blood concentration of valproic ac-id(VPA)on blood concentration of lamotrigine(LTG)in southern Chinese Han children with epilepsy,and to establish the predic-tion equation for quantitatively estimating blood concentration of LTG. METHODS:A total of 72 southern Chinese Han children with epilepsy selected from Guangzhou Women and Children's Medical Center during Jan. 2010-Sept. 2016 were given LTG+VPA. LC-MS/MS and enzyme amplified immunoassay were adopted to determine the blood concentration of LTG and VPA. RFLP-PCR was adopted to determine UGT1A4142T>G polymorphism. The relationships of age, gender, blood concentration of VPA, UGT1A4142T>G polymorphism and LTG concentration-to-dose-ratio (CDR) were also investigate. The prediction equation for blood concentration of LTG was established by multiple linear regression analysis. RESULTS:Age and blood concentration of VPA were positively related to CDR of LTG(r=0.225,0.300,P0.05). UGT1A4 TT,TG and GG genotypes were detected in 39,29,and 4 cases respectively;the frequencies of each genotype were in line with the Har-dy-Weinberg balance(P>0.05). CDR of LTG of TT genotype was significantly lower than those of TG and GG genotype,with sta-tistical significance(PG polymorphism(x4)were all related to blood concentration of LTG(PG polymorphism may associated with blood concentration of LTG. Established prediction equation can provide reference for precise medication in south-ern Chinese Han children with epilepsy.

Preliminary analysis on antigen polymorphism of HLA-B15 and HLA-B40 groups among Han population in Guangxi area / 国际检验医学杂志

Objective To investigate the allele and specificity distribution situation of HLA-B15 group and HLA-B40 group antigens among Han population in Guangxi area and to explore their possible influence on transplantation donors selection in clinic.Methods The blood samples of 1 644 Han donors in Guangxi region were performed the HLA-B genotyping by PCR-SBT,the frequencies of each allele were calculated by the direct computing method.The antigen specificity of various alleles were analyzed,then the gene frequencies of HLA-B15 and HLA-B40 groups were compared with those from other populations.Results The gene frequency at HLA-B locus in 1 644 Han persons was inconsistent with the Hardy-Weinberg equilibrium(P<0.05).Fourteen alleles in HLA-B15 group were detected out,which belonged to 5 kinds of antigen specificity.In the HLA-B40 group,6 alleles were detected out,which belonged to two kinds of antigen specificity.Conclusion The antigen polymorphism of HLA-B15 and HLA-B40 groups among Han population in Guangxi area is close to that in southern Chinese Han populations,but which still keeps its characteristics of Guangxi area.

Application of CBCT in the detection of gingival biotype of Han nationality youths in Shanghai / 上海交通大学学报（医学版）

Objective · To detect gingival thickness of the anterior teeth region of Han nationality youths in Shanghai by cone-beam computerized tomography (CBCT), and evaluate its clinical application feasibility and the gingival biotype. Methods · Firstly, gingival thickness in the same site (5 participators, 30 sites) was detected by bone sounding and CBCT respectively, and the data were compared. A total of 30 participators with healthy gingival were recruited to the study and examined by the CBCT, the gingival thickness of selected sites (330 sites) was assessed and compared. All the subjects were examined by the experienced doctors and classified into three groups, thick-type middle-type and thin-type. Gingival thickness range and the proportion of every type were obtained. All data analyses were performed using SPSS 13.0. Results · There was no statistical difference in the thickness of gingival measured by bone sounding and CBCT (P>0.05). The main gingival biotypes of Han nationality youths in Shanghai were thin-type and middle-type. The average gingival thickness of upper central incisors [(1.32±0.15) mm] was larger than those of upper lateral incisors [(1.07±0.16) mm,P=0.000] and upper canines [(1.08±0.18) mm, P=0.000]. Conclusion · CBCT is feasible for detecting gingival thickness. Gingival thickness of the upper central incisors is significantly larger than those of upper lateral incisors and upper canines. The main gingival biotype of Han nationality youths in Shanghai is middle-type, the proportion of thick-type is least.