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.
Asian Continental Ancestry Group/genetics* ; China ; Ethnic Groups/genetics* ; Gene Frequency ; Genetic Loci ; Genetics, Population ; Humans ; Microsatellite Repeats/genetics* ; Polymorphism, Genetic

OBJECTIVE: To explore the association between rare HSPB1 variants and amyotrophic lateral sclerosis (ALS). METHODS: We performed next-generation sequencing for 166 Chinese ALS patients to screen for possible pathogenic rare variants of HSPB1. The control individuals were obtained from 1000 Genome Project and an in-house whole-exome sequencing database. The Sequence Kernel Association Test (SKAT) and the SKAT-optimal test (SKAT-O) were used to identify the association between rare HSPB1 variants and ALS. RESULTS: We identified 3 possible pathogenic rare variants of HSPB1 (all were missenses), including c.379C>T (p.R127W), c.446A>C (p.D149A) and c.451A>C (p.T151P). Compared with 1000 Genome Project, SKAT p=3.61×10 CONCLUSIONS Rare variants of HSPB1 are probably associated with the pathogenesis of ALS.
Amyotrophic Lateral Sclerosis/genetics* ; Asian Continental Ancestry Group ; Heat-Shock Proteins ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Molecular Chaperones ; Phenotype

Asian Continental Ancestry Group ; BRCA1 Protein/genetics* ; Breast Neoplasms/surgery* ; China ; Female ; Genetic Testing ; Humans ; Mastectomy

Objective: This study was aimed at examining the trends and correlates of physical activity (PA) and sedentary behaviors among Chinese children. Methods: A total of 4,341 subjects (6,936 observations) aged 6-17 years who participated in the China Health and Nutrition Survey (2004-2015) were included. Of the subjects, 41% participated in the survey twice or more. Random-effects ordinal regression models and repeated-measures mixed-effects models were used to examine the PA trends. Quantile regression models were applied to examine the factors influencing PA and sedentary behaviors. Results: From 2004 to 2015, the prevalence of physical inactivity among Chinese children aged 6-17 years increased by 5.5% [odds ratio ( Conclusions A declining PA trend among Chinese children aged 6-17 years was observed from 2004 to 2015, and certain subgroups and geographical areas are at higher risk of physical inactivity.
Adolescent ; Asian Continental Ancestry Group/statistics & numerical data* ; Child ; Child Behavior/ethnology* ; China/epidemiology* ; Exercise ; Female ; Humans ; Male ; Nutrition Surveys ; Regression Analysis ; Sedentary Behavior/ethnology*

Objective: This study aims to explore trends in sedentary behavior among Chinese children aged 6-17 years per demographic and social characteristics. Methods: A total of 4,341 children aged 6-17 years who participated in the Results: From 2004 to 2015, sedentary time among children aged 6-17 years increased from 23.9 ± 0.6 h/week to 25.7 ± 0.6 h/week ( Conclusions Sedentary time among Chinese children aged 6-17 years showed an upward trend from 2004 to 2015, especially among children residing in rural areas and regions with low urbanization levels.
Adolescent ; Asian Continental Ancestry Group ; Child ; China ; Female ; Health Surveys ; Humans ; Male ; Sedentary Behavior ; Socioeconomic Factors ; Urbanization

Tooth preparation is the primary and core operation technique for prosthodontics. Microscopic tooth preparation can improve the accuracy and efficiency of the operation. Experts from Society of Prosthodontics, Chinese Stomatological Association formulated the standard operating procedure for microscopic tooth preparation, so as to standardize its design points and operating procedures, highlight the difference between this novel technique and the traditional naked eye tooth preparation and promote the application of microscopic tooth preparation.
Asian Continental Ancestry Group ; Humans ; Oral Medicine ; Prosthodontics ; Reference Standards ; Tooth Preparation

OBJECTIVE: To explore the clinical characteristics and genetic basis for a pair of twins affected with hyaline fibromatosis syndrome (HFS). METHODS: Clinical data of the twins were retrospectively analyzed. High-throughput sequencing was carried out to detect potential pathogenic variants. CLUSTALX was employed to analyze cross-species conservation of the mutant amino acids. Impact of the mutations was predicted by using software including PolyPhen-2 and Mutation taster. RESULTS: The pair of twins have featured growth and intelligence retardation, and were found to carry compound heterozygous variants of the ANTXR2 gene including c.1214G>A and c.1074delT, among which c.1214G>A was unreported previously. Both variants were predicted to be pathogenic. In addition to growth and mental delay, the pair of twins also featured hyperplasia of the gum and soft tissue-like masses of the auricle. The younger brother had rupture of the auricle mass during follow-up. CONCLUSION The patients' condition can probably be attributed to the compound heterozygous variants of the ANTXR2 gene. Above finding has facilitated molecular diagnosis of the patients.
Asian Continental Ancestry Group/genetics* ; China ; Humans ; Hyalinosis, Systemic/genetics* ; Male ; Mutation ; Pedigree ; Receptors, Peptide/genetics* ; Retrospective Studies

OBJECTIVE: To investigate the genetic polymorphisms of 21 non-combined DNA index system short tandem repeat (STR) loci in Hainan Li population. METHODS: DNA samples from 339 unrelated healthy individuals of Li population from Hainan Province were extracted and amplified with fluorescence labeled multiplex PCR system. PCR products were electrophoresed on an ABI3130 Genetic Analyzer following the manufacturer's instructions. Allele designation was performed with a GeneMapper ID-X by comparison with the allele ladder provided by the corresponding kit. RESULTS: A total of 173 alleles and 489 genotypes were observed for the 21 STR loci, respectively. The frequencies of alleles and genotypes were 0.0010-0.5434 and 0.0020-0.3274, respectively. The heterozygosity varied from 0.639 to 0.833. Discrimination power (DP) was 0.803-0.948, power of exclusion for trio-paternity was 0.416-0.584, power of exclusion for duo-paternity was 0.140-0.238, the polymorphism information content(PIC) was 0.57-0.81, respectively. The total discrimination power (TDP), cumulative probability of exclusion for trio-paternity testing(CPE-trio) and cumulative probability of exclusion for duo-paternity testing (CPE-duo) were 0.999 999 999 999 99, 0.999 999 883 211 752, and 0.987 266, respectively. CONCLUSION The 21 STR loci are highly polymorphic and informative in the studied population and can be employed as supplementary loci in duo-paternity testing or cases with variant circumstances.
Asian Continental Ancestry Group/genetics* ; China ; DNA ; Gene Frequency ; Genetics, Population ; Humans ; Microsatellite Repeats/genetics* ; Polymorphism, Genetic

Asian Continental Ancestry Group ; Blood Coagulation Disorders/therapy* ; China ; Consensus ; Hemorrhage ; Humans

Asian Continental Ancestry Group ; Chemical and Drug Induced Liver Injury/etiology* ; China ; Consensus ; Hematologic Diseases ; Humans