Study on colonization of Group B Streptococcus in pregnant women of Mongolian and Han nationality and the status of neonatal early-onset septicemia / 中华急诊医学杂志

Objective:To explore the carrier status of group B streptococci (GBS) in pregnant women of Mongolian and Han nationality and the neonatal GBS infection in order to identify the high risk factors of GBS infection in Mongolian and Han newborns in this area.Methods:Totally 7289 pregnant women and their newborns born alive were tested for GBS in the Affiliated Hospital of Inner Mongolia Medical University from June 2017 to June 2020, and their newborns were cultured for GBS, and the venous blood of newborns delivered by GBS positive women were detected for anti-GBS capsular polysaccharide antibody level, in order to determine the high risk factors of neonatal GBS infection.Results:Among the 7289 pregnant women, 3136 were Mongolian pregnant women (2599 full-term delivery and 537 premature delivery) and 4153 were Han pregnant women (3541 full-term delivery and 612 premature delivery). The results of GBS test showed that the GBS carrier rate was 8.19% in the Mongolian preterm delivery group, 4.35% in the Mongolian term group, 11.93% in the Han preterm group, and 5.76% in the Han term group, indicating that the carrier rate of GBS in the preterm group was significantly higher than that in the term group, regardless of Mongolian and Han nationality ( P < 0.05). Further comparing the GBS carrier rate of Mongolian and Han pregnant women, the GBS carrier rate of Mongolian pregnant women was significantly lower than that of Han pregnant women regardless of the premature delivery group and term group ( P < 0.05). (2) A total of 434 newborns were born by GBS positive parturients. The positive rates of GBS in Mongolian premature infants, Mongolian full-term infants, Han premature infants and Han full-term infants were 29.55%, 14.16%, 31.51% and 17.65%, respectively, suggesting that the positive rate of GBS in premature infants was significantly higher than that in full-term infants, regardless of Mongolian and Han nationality ( P<0.05). Further comparing the positive rate of GBS in Mongolian and Han newborns, there was no significant difference in the positive rate of GBS between Mongolian newborns and Han newborns, no matter the premature delivery group and the full-term group. (3) This study compared the incidence of early-onset GBS septicemia in Mongolian and Han newborns. The results showed that the incidence of early-onset GBS septicemia in Mongolian premature infants was 23.08%, and none in full-term infants. The incidence of early-onset GBS septicemia in Han premature infants was 26.09%. The incidence of early-onset GBS septicemia in term infants was 5.56%. The incidence of neonatal GBS septicemia in the preterm group was significantly higher than that in the term group, regardless of Mongolian and Han nationality. By further comparing the incidence of GBS septicemia in Mongolian and Han newborns, there was no significant difference in the positive rate of GBS between Mongolian newborns and Han newborns regardless of the premature delivery group and the term group. (4) In both Mongolian and Han nationality, the level of anti-GBS capsular polysaccharide antibody in premature infants was significantly lower than that in term infants ( P < 0.05). (5) Regardless of the Mongolian and Han nationality, compared with GBS negative group, GBS positive rate was higher in pregnant women aged≥35 years old, with history of menstruation, miscarriage, vaginitis, floating population, and those who had not undergone pre-pregnancy examination,,which were the high risk factors for GBS-positive pregnant women during pregnancy. (6) In both Mongolian and Han nationality, the incidence of chorioamnionitis, puerperal infection, premature delivery and premature rupture of membranes in the GBS positive group was higher than that in the GBS negative group, and the incidence of fetal distress and neonatal asphyxia in the GBS positive group was also higher than that in the GBS negative group. Conclusions:The carrier rate of GBS in Mongolian pregnant women is lower than that in Han pregnant women, and positive GBS during pregnancy will increase the incidence of adverse maternal and fetal outcomes such as chorioamnionitis, puerperal infection, premature delivery, premature rupture of membranes, fetal distress, neonatal asphyxia and neonatal early-onset GBS septicemia. The high risk factors are maternal age ≥ 35 years old, history of menstruation, abortion, vaginitis, floating population, and infection without pre-pregnancy examination. We should attach great importance to the perinatal high risk factors and formulate corresponding intervention measures accordingly, and make rational use of antibiotics for prenatal prevention, so as to further reduce the incidence of early-onset GBS septicemia in newborns.

Genetic polymorphism of 23 autosomal STR loci in Han population from Yuncheng, Shanxi Province / 中南大学学报(医学版)

OBJECTIVES@#Due to the genetic feature of high diversity than other DNA markers, short tandem repeat (STR) plays key roles in forensic, anthropology, and population genetics. Newly introduced multiple STR kit is more valuable because of the greatly improved discriminatory power with the increase in the number of STR loci. The genetic polymorphic data are essential for the application and research in specific population. This study aims to investigate the genetic polymorphism of Han population residing in Yuncheng district, Shanxi Province, to evaluate the application of 23 STR loci in forensic personal identification and paternity test, and to explore the genetic relationship of Han population between Yuncheng and other populations.@*METHODS@#A total of 23 STR loci were amplified from 525 healthy unrelated individuals from the Han nationality in Yuncheng, Shanxi Province using the AGCU EX25 amplification kit. The products were detected and separated by ABI 3500 Genetic Analyzer. Alleles were genotyped by GeneMapper ID (Version 3.2) software, and corresponding frequencies and forensic parameters were calculated. We calculated the genetic distance and plotted the neighboring-joining tree with other 13 population.@*RESULTS@#The allele frequency of the 23 STRs ranged from 0.0010 to 0.5090. No deviation from Hardy-Weinberg equilibrium (@*CONCLUSIONS@#These 23 STRs are highly genetic polymorphic and informative in the Han population of Yuncheng, Shanxi Province, which can provide basic data for forensic personal identification, paternity testing, and population genetic research.

Genetic testing and clinical phenotypic analysis of familial vitreous amyloidosis in two Han Chinese families / 中华实验眼科杂志

Objective:To investigate the clinical characteristics of two Han families with familial vitreous amyloidosis (FVA) and the gene mutation.Methods:A pedigree investigation was performed.Two Han Chinese families with FVA treated in Xiangya Hospital of Central South University from January 2015 to December 2018 were collected.General examination and ophthalmic examination were performed among 112 members of the two families.Peripheral blood samples were collected from 32 family members (15 patients in MZ001 pedigree, 7 patients in MZ002 pedigree, and 5 persons with normal clinical phenotype from each pedigree) for DNA extraction, polymerase chain reaction (PCR) amplification, transthyretin ( TTR) gene screening and sequencing.Vitreous biopsy following three-channel 23-gauge pars plana vitrectomy was performed on the two probands in the two families.Vitreous specimens were sent for pathological examination.This study adhered to the Declaration of Helsinki.The study protocol was approved by an Ethics Committee of Xiangya Hospital of Central South University (No.201412463), and written informed consent was obtained from all subjects before any medical examination. Results:In MZ001, there were 15 cases of the 63 members presented bilateral vitreous opacity at an average age of (43.6±5.8) years.No lesion was found in nervous system, cardiovascular system, kidney or liver in general inspection.The vitreous of the proband (Ⅲ13) was so sticky that could not be totally removed during vitrectomy.The vitreous specimen showed positive Congo red staining.Ⅲ13 had elevated intraocular pressure after vitrectomy and was diagnosed as open-angle glaucoma.Gene sequencing revealed Gly83Arg mutation in the exon 3 of TTR gene.In MZ002, 7 cases of 49 members had bilateral vitreous opacity at an average age of (50.4±5.5) years, among which, 3 cases appeared symptoms of limb numbness and decreased muscle strength.The vitreous body of the proband (Ⅱ11) in MZ002 pedigree was looser and easier to remove during vitrectomy than that of Ⅲ13 in MZ001 pedigree.Vitreous specimen of Ⅱ11 was positive with Congo red staining.Gene sequencing revealed an Ala36Pro variant in the exon 3 of TTR gene. Conclusions:Gly83Arg or Ala36Pro mutation of TTR gene can cause FVA.Different mutations can lead to different clinical phenotypes such as age of onset, clinical symptoms and complications of other systems.

Study on the relationship between synonymous mutation of ABCA3 gene and neonatal respiratory distress syndrome of mongolian and han nationality in inner mongolia / 中华急诊医学杂志

Objective:To investigate whether the synonymous variation of the ATP-binding cassette transporter A3 (ABCA3) gene may increase the risk of respiratory distress syndrome (RDS) in Mongolian and Han newborns in Inner Mongolia.Methods:From January 2018 to June 2019, the children of Mongolian and Han nationality who were hospitalized in the Department of Neonatal Pediatrics, affiliated Hospital of Inner Mongolia Medical University and the control group were sequenced by ABCA3 exon gene to analyze whether there was synonymous mutation in ABCA3 gene.Results:A total of 101 children with RDS were enrolled, including 37 children with Mongolian and 64 with Han children. There were 113 patients in the control group, including 45 Mongolian children and 68 Han children. Children with Mongolian and Han nationality RDS and control group can detect multiple synonymous mutation sites, such as: F353F, P585P, A227A, V150V, L982L, A928A, S1372S, P1653P, E1618E, and A1027A, etc, among them, four synonymous variants of p.A227A, p.F353F, p.P585P and p.S1372S are common synonymous mutants. In both Mongolian and Han nationality, the frequency of ABCA3 gene synonymous mutation in RDS group was significantly higher than that in control group (Mongolian: χ2=9.402, P=0.002; Han: χ2=9.348, P=0.002 ). The mutation rates of F353F and P585P in Mongolian and Han children with RDS were higher than those in the control group, and the difference was statistically significant(Mongolian F353F: χ2=5.270, P=0.022; Han F353F: χ2=5.532, P=0.019.Mongolian P585P: χ2=4.711, P=0.030; Han P585P: χ2=4.480, P=0.034). Conclusions:The synonymous variation of ABCA3 gene may increase the risk of RDS in Mongolian and Han newborns in Inner Mongolia, and F353F and P585P may be one of the susceptible genes of RDS in Mongolian and Han newborns in Inner Mongolia.

Effects of Gene Polymorphism on the Increasing of Tacrolimus Blood Concentration Induced by Wuzhi Capsules in Renal Transplantation Patients / 中国药房

OBJECTIVE：To inve stigate the effects of polymorphism of CYP3A4，CYP3A5 and other genes on the increasing of tacrolimus blood concentration by Wuzhi capsules in renal transplantation patients. METHODS ：Totally 194 patients in Han nationality underwent renal transplantation and rece ived outpatient follow-up after surgery were selected from the First Affiliated Hospital of Anhui Medical University during Aug. 2015-Nov. 2018，and then divided into single drug group （107 cases）and combination group （87 cases）according to using of Wuzhi capsules or not. Single drug group was given Tacrolimus capsules 0.1-0.15 mg/kg，po，bid+Mycophenolate mofetil capsule s 0.5-0.75 g，bid or Mycophenolate sodium enteric-coated tablets 360-540 mg，bid+Prednisone acetate tablets 10 mg，qd；combination group was additionally given two Wuzhi capsules ，bid，on the basis of single drug group. Two groups were treated at least 7 d. The clinical data （such as patients ’sex and age ）were collected ，and enzyme amplification immunoassay was used to detect steady-state valley concentration of tacrolimus ，and calculate valley concentration/daily dose （C/D）value. PCR was adopted to detect patient genotyping of CYP3A5 gene rs 4646457，rs15524 and rs776746 locus，CYP3A4 gene rs 4646437，rs2242480 and rs 35599367 locus，ABCB1 gene rs 1128503 locus，ABCC2 gene rs3740066 locus，NR1I2 gene rs 3814055 locus，POR gene rs 1057868 locus，PPARA gene rs 4253728 locus，IL-3 gene rs 181781 locus， IL-10 gene rs 1800896 locus，CTLA4 gene rs 4553808 locus，CYP2C19 gene rs 4244285 and rs 4986893 locus，respectively. The correlation of each factor and tacrolimus C/D value was analyzed by Kruskal-Wallis test or Spearman rank test. Multivariate linear regression was conducted. RESULTS ：In 194 renal transplanation patients ，only wild type at rs 3599367 locus of CYP3A4 gene and rs4253728 locus of PPARA gene were detected ，and each genotype distribution of other genes was consistent with the Hardy-Weinberg equilibrium （P＞0.05）. Single factor analysis and multiple linear regression analysis showed that the combination of Wuzhi capsules and rs 776746 polymorphism of CYP3A5 gene were related to tacrolimus C/D value（P＜0.05）. There was statistical significance in tacrolimus C/D values among different genotypes of CYP3A5 gene in single drug group and combnation group（P＜0.05）. C/D value of GG and AG genotype in single drug group were significantly lower than combination group （P＜ 0.05），while there was no statistical significance in tacrolimus C/D value of AA genotype between 2 groups （P＞0.05）. CONCLUSIONS：Combination of Wuzhi capsules or not and polymorphism of CYP3A5 gene rs 776746 locus are associated with blood concentration of tacrolimus in renal transplantation patients in Han nationality. Combined use of Wuzhi capsules can increase blood concentration of tacrolimus in GG and AG genotype ，but have no significant effect on AA genotype.

Analysis of Correlation between Gene Polymorphisms of CRHBP in Yunnan Han Population and Schizophrenia and Aggressive Behavior / 法医学杂志

Objective To explore the correlation between 4 tag single nucleotide polymorphisms （Tag SNP） sites （rs7721799, rs32897, rs7718461, rs10062367） of corticotropin releasing hormone binding protein （CRHBP） and schizophrenia and aggressive behavior in the Yunnan Han population. Methods Case-control correlation analysis was used to establish a complex amplification system. Improved multiplex ligase detection reaction （iMLDR） technology was used to detect the genotypes of 4 SNP sites of CRHBP gene of 163 Han schizophrenic patients （including 81 patients with aggressive behavior, 82 patients without aggressive behavior） and 345 healthy Han individuals, which were analyzed statistically by SPSS 19.0, Haploview 4.2 and PHASE 2.1 software. Results There was no correlation between the 3 SNP sites of CRHBP gene and the onset of schizophrenia except for the rs7718461 site （P>0.05）. The relative risk of aggressive behavior of patients carrying GG or GA genotype at rs7718461 site were 4.903 times higher than those carrying AA genotype （P<0.05）. Conclusion The CRHBP gene may not be associated with the occurrence of schizophrenia in Yunnan Han population, but AA genotype of rs7718461 may reduce the risk of aggressive behavior in schizophrenia patients.

Estimation of Sex from Patella Measurements in Sichuan Han Population Based on CT-Three-Dimensional Volume Reconstruction Technique / 法医学杂志

Objective To estimate sex based on patella measurements of Sichuan Han population by computed tomography three-dimensional volume reconstruction technique, and to explore the application value of patella in sex estimation. Methods CT three-dimensional volume reconstruction images of patella of 250 individuals were collected, the four measurement indicators including patellar length, patellar width, patellar thickness, and patellar volume were measured. The t-test was used to determine measurement indicators with sex differences. Fisher discriminant analysis was used to establish the sex discriminant function and the prediction accuracy was calculated by leave-one-out cross validation. Results The sex differences of the four measurement indicators had a statistical significance （P<0.05）. The accuracy rate of the univariate discriminant function established by the patellar length was the highest （82.0%）. The accuracy rates of the all indicators discriminant function and the stepwise discriminant function were 80.4% and 81.6%, respectively. Conclusion It is feasible and accurate to estimate sex of Sichuan Han population by patella measurements with CT three-dimensional volume reconstruction technique. The method may be used as an alternative for sex estimation of Sichuan Han population when other bones with higher accuracy are not available.

Comparison of Three CNN Models Applied in Bone Age Assessment of Pelvic Radiographs of Adolescents / 法医学杂志

Objective To compare the performance of three deep-learning models （VGG19, Inception-V3 and Inception-ResNet-V2） in automatic bone age assessment based on pelvic X-ray radiographs. Methods A total of 962 pelvic X ray radiographs taken from adolescents （481 males, 481 females） aged from 11.0 to 21.0 years in five provinces and cities of China were collected, preprocessed and used as objects of study. Eighty percent of these X ray radiographs were divided into training set and validation set with random sampling method and used for model fitting and hyper-parameters adjustment. Twenty percent were used as test sets, to evaluate the ability of model generalization. The performances of the three models were assessed by comparing the root mean square error （RMSE）, mean absolute error （MAE） and Bland-Altman plots between the model estimates and the chronological ages. Results The mean RMSE and MAE between bone age estimates of the VGG19 model and the chronological ages were 1.29 and 1.02 years, respectively. The mean RMSE and MAE between bone age estimates of the Inception-V3 model and the chronological ages were 1.17 and 0.82 years, respectively. The mean RMSE and MAE between bone age estimates of the Inception-ResNet-V2 model and the chronological ages were 1.11 and 0.84 years, respectively. The Bland-Altman plots showed that the mean value of differences between bone age estimates of Inception-ResNet-V2 model and the chronological ages was the lowest. Conclusion In the automatic bone age assessment of adolescent pelvis, the Inception-ResNet-V2 model performs the best while the Inception-V3 model achieves a similar accuracy as VGG19 model.

Genetic Structure Analysis of Y Chromosome STR and SNP in Population of Changshu / 法医学杂志

Objective To provide a theoretical basis for building a Y chromosome database in specific regions by analyzing the pedigree specific core haplogroup and region specific genetic structure in Changshu. Methods One thousand seven hundred and two samples from unrelated Han male individuals in Changshu were collected. Then 27 Y-STR were genotyped through YfilerTM Plus PCR Amplification Kit, Y-SNP haplogroup of each sample was speculated using Y-Predictor software and some samples were verified by amplification refractory mutation system-polymerase chain reaction （ARMS-PCR）. Results A total of 1 556 haplotypes were found on the 27 Y-STR genetic markers of the 1 702 samples. The haplotype diversity （HD） value was 0.999 827. DYS385 （0.933） had the highest gene diversity （GD） value while DYS438 （0.409） had the lowest. By the Y-Predictor software, all samples were confirmed to be from 162 sub-haplogroups of C, D, N, O, Q and R. Samples were randomly selected to verify the prediction results by the software and the prediction accuracy of Y-Predictor software was as high as 95.74%. Conclusion This study found that 27 Y-STR genetic markers have relatively high polymorphisms in the Changshu population, and have good forensic individual identification and paternity testing ability.

Age Estimation in Han Adults by Thin-Layer CT Scan of Cranial Sutures / 法医学杂志

Objective To explore the value of degree of cranial suture closure in forensic adult age estimation by thin-layer CT scan and establish an adult age estimation model of the Han nationality. Methods Thin-layer CT scan samples of the heads of 220 healthy Sichuan Han adults （110 males, 110 females） aged 20 to 70 were collected, of which 20 samples （10 males, 10 females） were randomly selected as test samples. The sagittal suture, coronal suture （both left and right） and lambdoid suture （both left and right） were respectively and equally divided into 2 segments, and every segment was equally divided into 10 layers and the corresponding multiplanar reformation （MPR） images were selected. The closure of cranial sutures on MPR images was classified into the grades 1-7. The correlations between cranial sutures and age were analyzed to build regression equation for age estimation. Results The degree of closure of sagittal suture, coronal suture （both left and right） and lambdoid suture （both left and right） was positively correlated with age. The coefficient of determination （R2） of regression equation was 0.419 in males, 0.589 in females, and 0.522 in all samples. The results of the verification test showed that the mean absolute error （MAE） was 6.39 years in males, 6.16 years in females, and 6.29 years in all samples. Conclusion There was a higher accuracy in adult age estimation by thin-layer CT scan of cranial sutures. The age of Han nationality adults can be estimated by the degree of cranial sutures closure.

Characteristics analysis of emotional memory of college students / 中华行为医学与脑科学杂志

Objective To explore the gender and cultural differences in emotional memory of college students and whether they have memory preferences for emotional pictures with different valence.Methods Using the learning-recognition paradigm,fifty-four Tibetan and Han students were asked to recognize the emotional face images of different valence.The reaction time and accuracy of the subjects were recorded and analyzed.Results (1) The reaction times of the Tibetan and Han subjects were (1 808.28±528.45) ms and (1 508.27±455.37)ms,the main effect of national type was significant (F(1,50)=5.826,P＜0.05).The main effect of emotional picture valence was significant (F(2,100)=6.997,P＜0.05),the reaction time of negative pictures ((1 568.90 ± 534.45) ms) was significantly shorter than that of the positive picture ((1 684.08±476.24) ms) and neural pictures ((1 738.51 ± 528.73) ms).(2) On the accuracy rate,the main effect of emotional picture valence was significant (F(2,49)=29.56,P＜0.05).The accuracy of negative images ((78.83±8.55) ％) was significantly higher than that of the positive ((73.41 ±9.66) ％) and neutral picture ((67.96 ± 9.64) ％).(3) For Tibetan subjects,the accuracy of positive picture ((77.46 ± 8.48)％) was significantly higher than that of positive ((70.89±8.83)％) and neutral pictures ((67.32± 8.70) ％),the main effect of emotional picture valence was significant (F(2.52)=14.891,P＜0.05).(4) For Han subjects,,the response time of negative images ((1 359.89±365.58) ms) was significantly shorter than that of positive ((1 549.93±434.60) ms) and neutral pictures ((1 615.01±528.77) ms),the main effect of emotional picture valence was significant (F(2,48)=9.758,P＜0.05).The accuracy of negative images ((80.31±8.53)％) was significantly higher than that of neutral ((68.65±10.70)％) and positive images ((76.12±9.94)％),and the main effect of emotional picture valence was significant (F(2,48) =15.359,P＜ 0.05).Conclusion National culture and emotional valence affect the emotional memory of the Tibetan and Han students.Both Tibetan and Han students have obvious "negative bias" on the recognition of emotional images,but they have different characteristics.

Analysis of relevant between iron metabolism indexes and intelligence quotient for primary school students in Dongxiang Nationality and Han Nationality of Gansu / 中国小儿急救医学

Objective To investigate the correlation between iron metabolism index and intelligence development of Dongxiang and Han students in Dongxiang county and Lanzhou city of Gansu province.Methods A total of 396 students aged from 6 to 11 years old were randomly selected for venous blood collection from two primary schools with Dongxiang and Han children in Dongxiang county and Lanzhou city.Blood routine and serum iron metabolism indicators were detected and iron metabolism indicators from different ethnic groups were analyzed.Students diagnosed with iron deficiency anemia(IDA) named as IDA group,and students without IDA who had similar background were enrolled in the control group.The correlation between iron metabolism index and intelligence quotient was analyzed.Results The ferritin level of Dongxiang students (51.81 μg/L)was lower than that of Han students(65.73 μg/L),and total iron binding capacity of students in Dongxiang county [(65.04 ± 6.68) μ mol/L] was higher than that of students in Lanzhou city [(59.92 ±5.91) μmol/L].The transferrinsaturation of students in Dongxiang county [0.23 (0.19 ～ 0.30)] was lower than that of students in Lanzhou city[0.26(0.20 ～0.32)].The differences were statistically significant(P ＜0.05).Analysis of multiple linear regression showed that ferritin and serum iron were correlated to intelligence quotient score of the IDA students (P ＜ 0.05).Conclusion Ferritin and serum iron are associated with primary school students' intelligence quotient.Religious practice,regional economic and cultural level have a certain influence on iron metabolism of local primary school students.It is very important to strengthen the supplement of dietary iron in primary school students in Dongxiang County and reduce the prevalence of iron deficiency.

Dermatoglyphics of Han people living in Huaibei plains on Anhui / 解剖学报

College of Life Science, Anhui ftormal University, Anhui Wuhu 241000, China Objective To report hand dermatoglyphics parameters of Han individuals living in Huaibei plains of Anhui. Methods Fingerprints and palmar prints were taken with informed consent, collected sample by ninhydrin-gourmet powder method, appraised and counted with slercomicroscope. Total samples were 1590 Han,including 796 males and 794 females. Results The result were obtained from finger pattern types, and order of decreasing, combination, fingerprint index, TFRC, a-bRC, a-bRD, atd angle, tPD, true patterns of palm and flexion creases etc model sample. Conclusion Its dermatoglyphic database will be useful for future studies in anthropology, genetics and mcdicine.

Analysis for polymorphism of MTHFR C677T gene in Han population in Beijing / 临床检验杂志

Objective@#To explore the distribution characteristics of MTHFR gene polymorphism of Chinese Han population in Beijing, and analyze the differences of distribution of MTHFR gene polymorphism between Beijing area and the other parts of northern China. @*Methods@#MTHFR C677T gene was detected by PCR-gold magnetic particles chromatography. The distribution characteristics of MTHFR gene polymorphism of 3 945 healthy subjects from September 2014 to May 2018 detected in Peking Union Medical College Hospital were analyzed retrospectively. The distribution of MTHFR gene polymorphism in Chinese Han population in Beijing area was compared with the Han population of the other area from northern China by reviewing domestic and foreign literature databases. @*Results@#The frequencies of CC, CT and TT genotype of MTHFR C677T gene in the male population undergoing physical examination in Beijing were 23.3%, 50.5% and 26.2%, respectively, and the frequencies of C and T allele frequencies were 48.6% and 51.4%, respectively. The frequencies of CC, CT and TT genotype of MTHFR C677T gene in the female population were 22.7%, 49.4% and 27.9%, respectively, and the C and T allele frequencies were 47.4% and 52.6%, respectively. There was no difference in genotype frequency and allele freaaency between male and femal (P＞0.05). The frequencies of CC, CT and TT genotypes and allele frequencies of MTHFR C677T gene in the population of Beijing area were significantly different from those of Heilongjiang, Jilin, Hebei, Shandong and Henan provinces (P＜0.01). @*Conclusion@#There was no significant difference of polymorphism distribution of MTHFR C677T gene between male and female populations in Beijing. The distinct distribution characteristics of MTHFR gene in Beijing area should be presented.

Correlation Analysis of HLA-DP Gene Polymorphisms with Immune Response to Antiviral Treatment for HCV Patients / 中国药房

OBJECTIVE： To study the correlation of HLA-DP gene polymorphisms with the immune response to antiviral treatment for hepatitis C virus （HCV） patients. METHODS： A total of 106 HCV Han-nationality patients were collected from our hospital during May 2013 to Aug 2017. All patients received PEG IFNα+ribavirin （RBV） for 48 weeks， and then 24 week follow-up after drug withdrawal. Age， body weight and baseline level of HCV-RNA were recorded. The typing of rs3077 and rs2395309 site of HLA-DP gene were detected by RT-qPCR with Taqman-MGB fluorescent probe. According to treatment outcome， the patients were divided into two groups such as sustained viral response （SVR） group and no-sustained viral response （N-SVR） group. Univariate and multivariate analysis were performed for influential factors （gender， age， body weight index， HCV-RNA baseline level， gene polymorphisms） of immune response to antiviral treatment for HCV patients with Logistic regression model. RESULTS： Among 106 patients， the frequencies of CC， CT and TT genotype at rs3077 site were 40.6％， 35.8％ and 23.6％； those of GG， GA and AA genotype at rs2395309 site were 50.0％， 39.6％， 10.4％， respectively， which were in line with Hardy-Weinberg genetic balance （P＞0.05）. Totally 80 HCV patients were obtained in SVR group， and 26 HCV patients in N-SVR group. The patient’s age， the proportion of CT and TT genotype of rs3077 site and GA and AA genotype of rs2395309 site in SVR group were significantly lower than N-SVR group. The proportion of CC genotype at rs3077 site and GG genotype at rs2395309 site were significantly higher than N-SVR group （P＜0.05）. There was no statistical significance in gender， body weight index or HCV-RNA baseline level between 2 groups （P＞0.05）. Univariate and multivariate analysis showed that gender， body mass index， HCV-RNA baseline level， CC genotype at rs3077 site and GG genotype at rs2395309 site were not related to the immune response to antiviral treatment （P＞0.05）. Age， CT and TT genotype at rs3077 site， GA and AA genotype at rs2395309 site were associated with the immune response to antiviral therapy [OR were 1.135， 1.766， 1.283， 1.218， 1.103， 95％CI were （1.017，1.267）， （1.007，3.100）， （1.038，1.585）， （1.011，1.467）， （1.038，1.172）， respectively， P＜0.05]. CONCLUSIONS： Age and the polymorphisms of HLA-DP gene at rs3077 and rs2395309 site are related to immune response to PEG IFNα+RBV antiviral treatment for HCV Han-nationality patients. Young patients may have higher antiviral immune response rate， while carriers with T and A mutation alleles may have lower antiviral immune response rate.

Correlation Analysis of ADPRT rs1136410 Polymorphism with the Occurrence of Non-small Cell Lung Cancer in Han Nationa- lity from Northern Jiangsu / 中国药房

OBJECTIVE： To investigate the correlation of ADPRT rs1136410 polymorphism with the occurrence of non-small cell lung cancer （NSCLC） in Han nationality from northern Jiangsu. METHODS： A total of 283 patients with primary NSCLC of Han nationality in Northern Jiangsu were selected from the Affiliated Hospital of Xuzhou Medical University during Nov. 2015-Dec. 2018 as NSCLC group. A total of 210 healthy subjects underwent physical examination were included in control group. PCR-RFLP was utilized to determine the genotypes at ADPRT rs1136410 locus. Logistic regression model was used to evaluate the effect of polymorphism and its interaction with smoking on the occurrence of NSCLC. RESULTS： There was no statistical significance in age and gender between 2 groups （P＞0.05）. The proportion of smoker in NSCLC group was significantly higher than control group （P＜0.05）. TT， TC and CC genotypes were detected at rs1136410 locus of ADPRT gene. The frequency of TT， TC and CC genotype were 41.9％，44.8％ and 13.3％， and those of allele T and C were 64.3％ and 35.7％ in control group. The frequency of TT， TC and CC genotype were 21.6％， 50.2％ and 28.2％， and those of allele T and C were 46.6％ and 53.4％ in NSCLC group， respectively. The frequencies of genotypes in 2 groups were in accordance with Hardy-Weinberg equilibrium （P＞0.05）， while there was significant difference in genotype and allele frequencies between 2 groups （P＜0.05）. Compared with TT genotype， the risk of NSCLC in individuals carrying TC and CC genotypes raised by 1.179， 3.122 folds [ORTC＝2.179， 95％CI （1.435， 3.309）， P＜0.05； ORCC＝4.122，95％CI（2.401，7.075），P＜0.05]. Compared with individuals carrying TT genotype， the risk of NSCLC occurrence in non-smokers carrying TC and CC genotypes increased by 0.371， 1.328 fold [ORTC＝1.371，95％CI （0.927，3.428），P＜0.05； ORCC＝2.328，95％CI （1.249，4.622），P＜0.05]； and the risk of NSCLC occurrence in smokers carrying TC and CC genotypes increased by 0.928， 2.182 folds [ORTC＝1.928，95％CI （1.257，2.957）， P＜0.05；ORCC＝3.182，95％CI （1.760，5.754）， P＜0.05]. CONCLUSIONS： The rs1136410 locus mutant genotype of ADPRT gene is the risk factor of NSCLC in Han nationality from Northern Jiangsu， and smoking raises this risk of NSCLC occurrence in individuals with mutation genotypes of ADPRT rs1136410.

Genetic Structure Analysis of Y-Chromosome STR and SNP in Population of Wujiang Area, Suzhou City / 法医学杂志

Objective To analyze the genetic phenotypes of Y-chromosome STR and SNP in Han male population of Wujiang area, Suzhou City and explore the genetic structure of population of Wujiang area for further examination of regional-specific Y-SNP genetic markers ancestor haplogroups. Methods Blood samples of 472 Wujiang area Han males were randomly collected and genotyped by YfilerTM Plus PCR Amplification Kit. The allele frequencies and haplotype frequencies of each locus were obtained using the direct calculation method. Y-SNP haplogroups of each sample were estimated using Y-Predictor software and verified through experiments by amplification refractory mutation system-polymerase chain reaction （ARMS-PCR）. Results A total of 453 haplotypes were found in the 27 Y-STR genetic markers in 472 Han males of Wujiang area. The haplotype diversity （HD） was 0.997 696 93, among which, the highest gene diversity （GD） value was DYF387S1a/b （GD=0.953 1） and the lowest was DYS438 （GD=0.321 8）. Based on genotyping data of 27 Y-STRs and 472 samples, 132 haplogroups from C, D, N, O and Q, etc downstream Y-SNP haplogroups were estimated and then verified through experiments. Conclusion This study is based on Y-chromosome STR haplotypes, and predicts Y-SNP haplogroups by Y-Predictor software, then uses ARMS-PCR to verify. Y-SNP genetic markers were introduced to achieve precise analysis of the genetic structure of male families in population of three towns in Wujiang area.

Application of Demirjian's and Cameriere's Method in Dental Age Estimation of 8-16 Year Old Adolescents from Hunan Han Nationality / 法医学杂志

Objective To apply Demirjian's and Cameriere's method for dental age estimation of adolescents from Hunan Han nationality, and compare the accuracy of the two methods. Methods A total of 480 orthopantomograms of?8-16 year?old adolescents from Hunan Han nationality?with no special diseases and good nutritional status were collected?by Xiangya Stomatological Hospital of Central South University from January, 2016 to July, 2017, among them 236 males and 244 females. The dental age of each adolescent was determined by Demirjian's method and Cameriere's method, respectively, and the paired t-test of the estimated dental age and the chronological age determined by the two methods was conducted by SPSS 20.0 software to compare the difference between estimated dental age and chronological age. Results Mean chronological age of males and females was 11.91 and 11.88 years, respectively. The estimated dental age determined by Demirjian's method showed an underestimate of chronological age by an average of 0.11 years （males） and 0.15 years （females）, while the estimated dental age determined by Cameriere's method showed an underestimate of chronological age by an average of 0.83 years （males） and 0.72 years （females）. Conclusion Demirjian's method is more accurate than Cameriere's method in dental age estimation of adolescents from Hunan Han nationality, therefore more suitable for dental age estimation of adolescents in this region.

Polymorphism and Forensic Application Value of 71 Y-SNP Loci in Han Population of Northwest China / 法医学杂志

OBJECTIVES@#To analyze the polymorphism of 71 SNP loci on Y chromosome in Han population of Northwest China, to assess its forensic application value, and to screen out Y-SNP loci for forensic examination of Han population in East, South, and Northwest China based on the integration of previous research results.@*METHODS@#Multiplex polymerase chain reaction （PCR） and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry （MALDI-TOF-MS） were performed on 71 Y-SNP loci of 202 unrelated Han male individuals in Northwest China. Gene diversity （GD） and haplotype diversity （HD） values were calculated, and then Y-SNP loci of Han population in East, South, and Northwest China were screened with the combination of data from previous research.@*RESULTS@#Among the detected 71 loci, 67 loci were polymorphic in the Northwest Han male population, with GD values 0.010 0-0.502 2. There were 22 and 25 loci with a moderate （0.2≤GD<0.3） and high （GD≥0.3） amount of genetic information, respectively. There were 26 loci for the Han communities in Northwest, South, and East China.@*CONCLUSIONS@#Y-SNP loci are potential in paternity testing and individual identification, as well as the judgement of population distribution and migration.

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.