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OBJECTIVES@#To investigate the genetic polymorphism of InDel loci in SifalnDel 45plex system in the Han population in Jiangsu Province and the Mongolian population in Inner Mongolia, and to evaluate the effectiveness of the system in forensic medicine.@*METHODS@#SifaInDel 45plex system was used for genotyping in blood samples of 398 unrelated individuals from the above two populations, and allele frequencies and population genetic parameters of the two populations were calculated respectively. Eight intercontinental populations in the gnomAD database were used as reference populations. The genetic distances between the two studied populations and eight reference populations were calculated based on the allele frequencies of 27 autosomal-InDels (A-InDels). The phylogenetic trees and multidimensional scaling (MDS) analysis diagrams were constructed accordingly.@*RESULTS@#Among two studied populations, the 27 A-InDels and 16 X-InDels showed no linkage disequilibrium between each other and the allele frequency distributions were in Hardy-Weinberg equilibrium. The CDP of the 27 A-InDels in two studied populations were all higher than 0.999 999 999 9, and the CPEtrio were all less than 0.999 9. The CDP of the 16 X-InDels in Han in Jiangsu and Mongolian in Inner Mongolia female and male samples were 0.999 997 962, 0.999 998 389, and 0.999 818 940, 0.999 856 063, respectively. The CMECtrio were all less than 0.999 9. The results of population genetics showed that the Jiangsu Han nationality, Inner Mongolia Mongolian nationality and East Asian population clustered into one branch, showing closer genetic relationship. The other 7 intercontinental populations clustered into another group. And the above 3 populations displayed distant genetic relationships with the other 7 intercontinental populations.@*CONCLUSIONS@#The InDels in the SifaInDel 45plex system have good genetic polymorphism in the two studied populations, which can be used for forensic individual identification or as an effective complement for paternity identification, and to distinguish different intercontinental populations.
Subject(s)
Humans , Phylogeny , Gene Frequency , Polymorphism, Genetic , Genetics, Population , Asian People/genetics , China , INDEL MutationABSTRACT
ABSTRACT Absolute muscle strength or adjusted by body mass index (BMI) are useful to identify sarcopenia. However, these values are not accurate for older adults with extreme body sizes because the nonlinear relationship between strength and body size. The purpose was to determine cut-off points for identify sarcopenia in older adults using allometric coefficients to normalise handgrip strength (HGS) and 30-sec chair stand test (30-s CST) by body size. Allometric exponents were proposed with log-linear models for body-size variables (body mass, height and BMI). The remotion of body-size effect on muscle strength with allometric normalisation was tested by partial correlation. Cut-off points for low muscle strength were established by ROC curve and Youden index considering functional limitation (six-minute walk test<400m). Allometric exponents provided for body-size variables range from -0.01 to 2.28 (HGS) and -0.27 to 0.21 (30-s CST). The effect of body size on muscle strength was removed with allometric normalisation (r<0.30). Cut-off points accuracy was always adequate (AUC≥0.78; p<0.001). In conclusion, cut-off points of HGS and 30-s CST allometrically normalised were proposed to identify sarcopenia in Portuguese older adults and allometry maintained adequate the accuracy (AUC>70%). Allometry removed influence of body size on the expression of HGS and 30-s CST and permits evaluate muscle strength regardless of body-size.
RESUMO A força muscular absoluta ou ajustada pelo índice de massa corporal (IMC) é útil para identificar a sarcopenia. No entanto, esses valores não são precisos para idosos com tamanhos corporais extremos devido à relação não linear entre força e tamanho corporal. O objetivo foi determinar os pontos de corte para identificar a sarcopenia em idosos usando coeficientes alométricos para normalizar a força de preensão manual (FPM) e teste de sentar e levantar da cadeira em 30 segundos (30-s CST) por tamanho corporal. Os expoentes alométricos foram propostos com modelos log-lineares para variáveis de tamanho corporal (massa corporal, estatura e IMC). A remoção do efeito do tamanho corporal na força muscular com normalização alométrica foi testada por correlação parcial. Os pontos de corte para baixa força muscular foram estabelecidos pela curva ROC e índice de Youden considerando a limitação funcional (teste de caminhada de seis minutos<400m). Os expoentes alométricos fornecidos para variáveis de tamanho corporal variam de -0,01 a 2,28 (FPM) e -0,27 a 0,21 (30-s CST). O efeito do tamanho corporal na força muscular foi removido com normalização alométrica (r<0,30). A precisão dos pontos de corte sempre foi adequada (AUC≥0,78; p<0,001). Em conclusão, foram propostos pontos de corte para FPM e 30-s CST normalizados alometricamente para identificar sarcopenia em idosos portugueses e a alometria manteve a precisão adequada (AUC>70%). A alometria removeu a influência do tamanho corporal na expressão da FPM e 30-s CST e permite avaliar a força muscular independentemente do tamanho corporal.
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Objective To analysis the development tendency and research focus of long-term care of chronic disease between China and abroad and guide the research and application of long-term care of chronic disease in China. Methods The PubMed database and China National Knowledge Infrastructure (CNKI) database were searched and co-word clustering analysis and multidimensional scaling analysis with Bicomb and SPSS 21.00 software were used. Results Foreign hot spots are summarized as follows:oxygen inhalation therapy; mental disorder patients; the needs and demands of long term care. And the following domestic hot spots: long term care for the aged; long term care insurance and social support. Conclusions Long-term care researches in China is still in the exploratory stage and combining with domestic and foreign research hot spots, proposal of long term care in China are summarized as follows:expand the study population of the domestic long-term care, such as the disabled and the mental disorder;enrich domestic long-term care research topics, such as long-term care model, caregivers, care quality, etc.
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High frequency key words in papers on MOOC were retrieved from CNKI and Wanfang Data Knowledge Service Platform.A co-words matrix was constructed , which was then transformed into correlation matrix and dis-similarity matrix, respectively.The correlation matrix was analyzed by multidimensional scaling analysis to show the hotspots in domestic MOOC studies on teaching reform, open education, information technology, resource develop-ment, library service innovation and its development trends.
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A 3-bp insertion/deletion polymorphism in intron 6 of GSTM3 (rs1799735, GSTM3*A/*B) affects the activity of the phase 2 xenobiotic metabolizing enzyme GSTM3 and has been associated with increased cancer risk. The GSTM3*B allele is rare or absent in Southeast Asians, occurs in 5-20 percent of Europeans but was detected in 80 percent of Bantu from South Africa. The wide genetic diversity among Africans led us to investigate whether the high frequency of GSTM3*B prevailed in other sub-Saharan African populations. In 168 healthy individuals from Angola, Mozambique and the São Tomé e Príncipe islands, the GSTM3*B allele was three times more frequent (0.74-0.78) than the GSTM3*A allele (0.22-0.26), with no significant differences in allele frequency across the three groups. We combined these data with previously published results to carry out a multidimensional scaling analysis, which provided a visualization of the worldwide population affinities based on the GSTM3 *A/*B polymorphism.