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1.
The present study analyzes the prevalence of overweight/obesity in a sample of young adults from the University of the Basque Country (Spain), and tests the efficiency of the silhouettes to predict overweight/obesity. This cross‐sectional study was conducted in a sample of volunteer university students from the University of the Basque Country (356 men and 745 women, age: 18–33 years), who came to the Physical Anthropology laboratory where a standardized questionnaire was administered and anthropometric measurements were taken by a well‐trained anthropometrist. Height and weight were obtained. BMI was calculated as weight/height2 (kg/m2) and it was used as a reference method. Using a questionnaire, based on the standard figural stimuli, subjects were asked to choose the silhouette which was closest to his/her usual appearance (current body size). The accuracy of the Williamson et al.'s silhouettes as an overweight‐obesity indicator was analyzed by gender‐specific receiver operating curve (ROC). The cutoff figure to distinguish between nonoverweight and overweight‐obese individuals corresponded to number 7 in men and 6 in women. These cutoff values matched optimal sensitivity and specificity, with few nonoverweight subjects selecting silhouettes bigger than 7 in the case of men or 6 for women. In conclusion, the figural stimuli allows the identification of populations at overweight/obesity risk with the simple use of silhouettes, at least in this rank of age, where the overweight and obesity are yet little frequent.  相似文献   

2.
Limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by any of over 150 mutations in the calpain-3 (CAPN3) gene. Of those, 2362AG --> TCATCT is particularly prevalent in Basque patients, and this mutation was hypothesized to have arisen in the Basque Country. To explore the natural history of this mutation, we genotyped 65 Basque and non-Basque patients with LGMD2A who carry the 2362AG --> TCATCT mutation for four microsatellites within or flanking the gene. A particular haplotype was found in three-fourths of the patients and was assumed to be ancestral. From the average number of recombinations and mutations accumulated from this ancestral haplotype, the age of the 2362AG ----> TCATCT mutation was estimated to be 50 generations (i.e., 1,250 years), which is more recent than the Paleolithic Basque heritage. The subsequent spread of the 2362AG --> TCATCT mutation can be related to gene flow out of the Basque Country, even across a cultural border.  相似文献   

3.
This study examines the genetic variation in Basque Y chromosome lineages using data on 12 Y-short tandem repeat (STR) loci in a sample of 158 males from four Basque provinces of Spain (Alava, Vizcaya, Guipuzcoa, and Navarre). As reported in previous studies, the Basques are characterized by high frequencies of haplogroup R1b (83%). AMOVA analysis demonstrates genetic homogeneity, with a small but significant amount of genetic structure between provinces (Y-short tandem repeat loci STRs: 1.71%, p = 0.0369). Gene and haplotype diversity levels in the Basque population are on the low end of the European distribution (gene diversity: 0.4268; haplotype diversity: 0.9421). Post-Neolithic contribution to the paternal Basque gene pool was estimated by measuring the proportion of those haplogroups with a Time to Most Recent Common Ancestor (TMRCA) previously dated either prior (R1b, I2a2) or subsequent to (E1b1b, G2a, J2a) the Neolithic. Based on these estimates, the Basque provinces show varying degrees of post-Neolithic contribution in the paternal lineages (10.9% in the combined sample).  相似文献   

4.
Morphological differences between university students from Bilbao (Basque Country) and Madrid (Spanish Meseta) have been studied. The sample sizes are 99 and 119, respectively, and the age ranges from 18 to 22 years. The main differences between the two groups under study were observed concerning the skinfold thicknesses. Body weight, stature and limb girths do not show remarkable differences. The physiques, as judged from anthropometric somatotypes, differ in the first component (endomorphy): Basques have higher values.  相似文献   

5.
Premature ovarian failure (POF) is defined as cessation of menses before the age of 40. The most significant single gene associated with POF is the Fragile X Mental Retardation 1 gene (FMR1). In the present work we screened women with fertility problems from the Basque Country in order to determine, whether in these women, FMR1 CGG repeat size in the intermediate and premutation range was associated with their pathology, and whether intermediate and premutation carriers had endocrine signs of diminished ovarian function, using the most established measure of ovarian reserve, the gonadotropin FSH. A patient sample of 41 women with ovarian insufficiency and a control sample of 32 women with no fertility problems from the Basque Country were examined. The patient sample was classified into three categories according to the results of the retrospective assessment of their ovarian function. In group 2 of patients, women with irregular cycles, reduced fecundity and FSH levels ≥ 10 IU/l, there is a significant increase in the number of intermediate and premutation FMR1 alleles (35–54 CGG repeats). In group 3 of patients, women with amenorrhea for at least four consecutive months and FSH levels ≥ 10 IU/l, a significant increase in the number of intermediate FMR1 alleles (35–54 CGG repeats) was found in patients compared with controls. In this group all the patients had a serum concentration > 40 IU/l. The results suggest that in the analysed Basque sample the FMR1 gene has a role in the aetiology of POF. However, elevated FSH levels are more related to the menstrual cycle pattern than to the CGG repeat size.  相似文献   

6.
Fragile X syndrome is associated with an unstable CGG repeat sequence in the 5' untranslated region of the first exon of the FMR1 gene. The present study involved the evaluation of factors implicated in CGG repeat stability in a normal sample from two Basque valleys (Markina and Arratia), to discover whether the Basque population shows allelic diversity and to identify factors involved, by using the data in conjunction with previous findings. The study was based on a sample of 204 and 58 X chromosomes from the Markina and Arratia valleys, respectively. The CGG repeat, the AGG interspersion and two flanking microsatellite markers, FRAXAC1 and DXS548, were examined. In the Markina valley, gray zone alleles (> or =35 CGG repeats) were associated with anchoring AGGs, with the longest 3' pure CGG repeats of the valley (=15), with the 5' instability structure 9+n and with one principal fragile X FRAXAC1-DXS548 haplotype 42-50. In the Arratia valley, gray zone alleles (> or =35 CGG repeats) showed the highest frequency among the Basque samples analyzed, and were associated with anchoring AGGs, with the longest 3' pure repeats (> or =20), with the 5' instability structure 9+n and with one "normal" FRAXAC1-DXS548 haplotype 38-40 (these data from Arratia suggest the existence of a "protective" haplotype). The results showed, on the one hand, differences between Markina and Arratia in factors implicated in CGG repeat instability and, on the other hand, a great similarity between the general Basque sample from Biscay and the Markina valley.  相似文献   

7.
Clearcutting, a commonly used silvicultural practice in southeastern Ohio, often results in a forest stand with a different species composition than the parent stand. The time frames during which shifts in species composition occur on different sites are unclear. While some studies have documented species composition at specific points in time, none have attempted to examine differences throughout the first decades of stand development. This study focused on the early successional dynamics of young, mixed-species forests of southeastern Ohio. Species compositions were examined across a chronosequence of sixteen stands that developed following clearcutting. Stand ages ranged from six to 26 years. The sample was limited to dry-mesic hardwood forests on southerly aspects and on soils derived from residuum or colluvium. Across the chronosequence, stand density ranged from 17 636 stems ha-1 at age 6 to 2759 stems ha-1 at age 26, and basal area ranged from 8.2 m2 ha-1 to 22.1 m2 ha-1. Clumps comprised a substantial portion of the total stand density and basal area. At age 6–8 years after clearcutting, clumped stems accounted for 35.1% of the density and 48.2% of the basal area. At age 26 years, these proportions were 25.7% and 29.4%, respectively. Clumped stems were significantly larger (p<0.05) than non-clumped stems at each age group except 26 years. Total Quercus spp. density was greatest at age 6–8 years (3386 stems ha-1), and least at age 26 years (581 stems ha-1). When considered as a proportion of the total stand, however, the proportion was relatively stable, averaging 21.3%. However, importance value (IV=[relative density + relative basal area]/2) of Quercus in the upper canopy (dominant and codominant crown classes) was twice as much (72%) at age 26 years compared to age 6–8 years (35%). Quercus prinus L. was the major species across the chronosequence. For all age groups except 18–20 years. Q. prinus IV was the highest of any individual species in the upper canopy, and it ranged from 27 in the youngest stands (6–8 years) to 69 in the oldest stand (26 years). Within the intermediate crown class, the IV of Q. prinus equaled or exceeded those of all other species, except for the 18–20 year age group where it was second to A. rubrum. Quercus alba L. and Quercus velutina Lam. were minor components at age 26 years, although they dominated a comparison sample of six mature stands of the same ecosystem type. Liriodendron tulipifera L. was abundant 6–8 years after clearcutting, but nearly absent at age 26 years. Acer rubrum L. was the major species in both the intermediate and overtopped crown classes throughout the chronosequence. As gaps in the canopy occur. A. rubrum may become a more common species within the dominant-codominant crown class.  相似文献   

8.
We have studied the feasibility of using dinucleotide-repeat microsatellites in the analysis of DNA from ancient bones and teeth. We have used three microsatellites (IVS8CA, IVS17BTA, and IVS17BCA) within the cystic fibrosis transmembrane conductance regulator gene in 28 DNA samples from bones and teeth of up to 5000 years of age. PCR amplification was successful in 71.4% of cases. The repeated analysis of each marker produced different genotypes in 97% of samples, and the same individual genotype was reproduced at least once in 45.5% of cases. Alleles differing from the originals consisted of additions or deletions of 1–39 dinucleotides. The mechanism by which alleles differing from the originals were amplified can be related to the marked degradation of the DNA, with repeat sequences of different length interacting with the partially degraded repeats of the amplified loci. The repeated analysis of each sample allowed us to produce data with some anthropological interest. Among the haplotypes detected in samples from Easter Island, two (16-32-13 and 23-32-13) were found in more than one sample. Similarly, three haplotypes (16-7-17, 16-7-13, and 16-24-13) were detected more than once in samples from the Basque Country. Although haplotypes in the Basque Country are amongst the commonest in European chromosomes, most of those detected in the Easter Island samples are not frequent in Europeans. Thus, the repeated typing of microsatellites allowed us to postulate the genotypes that might be present in the samples but dinucleotide markers do not seem to be reliable enough for genotyping ancient bone and teeth samples.  相似文献   

9.
OBJECTIVES: To determine for the first time using PCR the distribution of Rhesus (Rh) blood group in French Basques and compare these results with those obtained by serology in the same sample and in the historical series from various Basque subgroups. METHODS: Rh polymorphism was determined in a sample of 127 autochthonous French Basques using allele-specific primers (ASP) PCR and traditional serological technique. Statistical comparisons were performed between both techniques and with the data published from various Basque subpopulations. RESULTS: No intra-sample discrepancies were detected between ASP-PCR and serology. A high frequency of RH Ddel exceeding 0.50, as typically described from several decades, was found here (0.511), as the peculiar frequency of cde (0.456) and cDE (0.073) haplotypes. This profile, obtained by molecular analysis, was within the range of previous historical studies in various Basque subpopulations using serological approach. The Rh polymorphism among the reviewed autochthonous Basque samples indicates a heterogeneous pattern of distribution, with individuals from the Alava province demonstrating the most atypical profile. CONCLUSIONS: Molecular biology approach using PCR confirms the peculiar pattern of Rh polymorphism which was previously defined by serology among Basques. Nevertheless, this distribution profile is not homogeneous within the Basque area.  相似文献   

10.

Background

It is customary, in population genetics studies, to consider Basques as the direct descendants of the Paleolithic Europeans. However, until now there has been no irrefutable genetic proof to support this supposition. Even studies based on mitochondrial DNA (mtDNA), an ideal molecule for constructing datable maternal genealogies, have failed to achieve this. It could be that incoming gene flow has replaced the Basque ancient lineages but it could also be that these lineages have not been detected due to a lack of resolution of the Basque mtDNA genealogies. To assess this possibility we analyzed here the mtDNA of a large sample of autochthonous Basques using mtDNA genomic sequencing for those lineages that could not be unequivocally classified by diagnostic RFLP analysis and control region (HVSI and HVSII) sequencing.

Results

We show that Basques have the most ancestral phylogeny in Europe for the rare mitochondrial subhaplogroup U8a. Divergence times situate the Basque origin of this lineage in the Upper Palaeolithic. Most probably, their primitive founders came from West Asia. The lack of U8a lineages in Africa points to an European and not a North African route of entrance. Phylogeographic analysis suggest that U8a had two expansion periods in Europe, the first, from a south-western area including the Iberian peninsula and Mediterranean France before 30,000 years ago, and the second, from Central Europe around 15,000–10,000 years ago.

Conclusion

It has been demonstrated, for the first time, that Basques show the oldest lineages in Europe for subhaplogroup U8a. Coalescence times for these lineages suggest their presence in the Basque country since the Upper Paleolithic. The European U8 phylogeography is congruent with the supposition that Basques could have participated in demographic re-expansions to repopulate central Europe in the last interglacial periods.  相似文献   

11.
The life history of Risso's dolphins (Grampus griseus) remains poorly known and data from strandings can help provide important information. Data from 126 Risso's dolphins stranded or bycaught along the southeastern coastline of South Africa between 1958 and 2017 were analyzed in relation to their sex, age structure, and diet. Mean estimated length at birth was 146.9 cm, while maximum length was 325 cm for males and 313 cm for females; small sample sizes precluded detailed examination of sexual dimorphism. Age estimates for 33 individuals (14 males, 17 females, 2 unknown sex) indicated a maximum age of 13 years (males) and 17 years (females), respectively; the oldest animal was 19 years (unknown sex). Mean length and age at attainment of sexual maturity were estimated at 280 cm and 7.1 years in males and at 282 cm and 7.7 years in females. Stomach contents from 27 individuals showed that diets of immature and mature males and females overlapped and consisted predominantly of cephalopods. Reported strandings decreased between 2000 and 2017, possibly due to a lack of reporting associated with a ban on driving on beaches or related to the collapse of the local “chokka” squid (Loligo reynaudii) fishery in 2014–2015.  相似文献   

12.
This survey reports primary results of classical allele frequencies on ten protein loci in a Basque population sample from northern Navarre, the less known from an anthropological and genetic point of view than the populations of the other Basque territories of Spain. Since ancient times this has been a zone of Basque population settlement, and the Basque language (Euskera) still remains deeply rooted among its autochthonous population. A total of 122 blood samples from unrelated northern Navarrese with autochthonous ascendants to the third generation were typed for GC, HP, PI, TF, ACP1, AK1, CA2, ESD, PGD and PGM1 genetic systems. Basque surnames and birthplaces were the criteria used to define family origins. Genetic structure was analyzed on different population hierarchical levels. Northern Navarre seems to be the most genetically deviated area in comparison with other Basque groups. The highest level of differentiation is observed between Navarrese and Alava Basques whereas Guipúzcoa province, the territory adjacent to northern Navarre, presents the lowest genetic distance from the study area. Northern Navarrese show some distinguishing genetic characteristics in relation to other Basque relative samples, which include high frequencies for PI*M1 and TF*C1 and low levels of PGD*C and PGM1*2 alleles. When the genetic data reported here are analyzed jointly with GM allotypes frequencies, the results significantly reinforce the relative position of Navarrese Basques as well as the topology of the Basque cluster on genetic maps. The analysis of relationships among the genetic structures of Basque population samples leads us to ask ourselves which of them fits in best with the ancient Basque population. Classical geographers placed the tribe of the Vascones in the geographical region currently known as Navarre, so extant Navarrese Basques might be considered firm candidates to denote the anthropological and genomic distinctiveness of the ancient Basques.  相似文献   

13.
Objective: This study identified genetic and environmental influences on the tracking of body size from birth to 16 to 18.5 years of age. Research Methods and Procedures: Longitudinal information was collected from a nationally representative sample of Finnish twin adolescents (birth cohorts 1975 to 1979) and their parents through questionnaires mailed when the twins were ages 16 and 18.5 years old. The sample included 702 monozygotic, 724 same‐sex dizygotic, and 762 opposite‐sex dizygotic sets of twins. The measures used were length, weight, ponderal index (kilograms per cubic meters), and gestational age at birth, and height, weight, and body mass index (kilograms per square meters) at 16 to 18.5 years of age. The changes in genetic and environmental influences on body size from birth to early adulthood were analyzed by quantitative genetic modeling. Results: The twins who had a higher weight or ponderal index at birth were taller and heavier in early adulthood, whereas those who were longer at birth were taller, but not heavier, later in life. Adult height was affected more by the birth size than body mass index. In the genetic modeling analyses, the genetic factors accounting for the variation of body size became more apparent with age, and both genetic and environmental influences on stature had a sizable carry‐over effect from birth to late adolescence, whereas for relative weight, the influences were more age‐specific. Discussion: The genetic and environmental architecture of body size changes from birth to adulthood. Even in monozygotic twins who share their genetic background, the initially larger twin tended to remain larger, demonstrating the long‐lasting effects of fetal environment on final body size.  相似文献   

14.
The levels of haplotype diversity associated with different alpha1-antitrypsin (PI) alleles were assessed by the analysis of three microsatellites located within or close to corticosteroid-binding globulin (CBG), alpha1-antitrypsin [PI-(TG)n] and protein C inhibitor [PCI-(TG)n] loci in three populations with different historic backgrounds: Portugal, the Basque Country and S?o Tomé Príncipe (Gulf of Guinea). Unlike the more distant PCI-(TG)n repeat, allelic variation at PI-(TG)n reflected distinct phases of mutational recovery of microsatellite diversity around different founder alleles and showed a considerable differentiation between alpha1-antitrypsin protein variants. In accordance with population history, the Basque sample presented overall reduced levels of microsatellite variation. The African sample, although presenting the highest PCI-(TG)n diversity, showed a lineage-specific reduction in PI-(TG)n heterozygosity within the oldest M1Ala213 variant that could have been caused by (1) selection at a closely linked locus or (2) biases in the microsatellite mutation process leading to a stable equilibrium distribution. Age estimates of alpha1-antitrypsin variants based on microsatellite variation suggest that the Z deficiency allele appeared 107-135 generations ago and could have been spread in Neolithic times. The S mutation has an older 279- to 470-generation age, indicating that its high frequencies in Iberia did not result from a recent bottleneck and that PI*S could have originated in this region. M2 and M3 types had lower age estimates than would be expected from their wide geographical distributions, suggesting that their dispersion in Europe might have been preceded by important bottlenecks.  相似文献   

15.
Fifty unrelated Basque males from southwest Idaho were typed for the 17 Y-STR loci in the Yfiler multiplex kit (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, YGATA H4.1 and DYS385a/b). In total, 42 haplotypes were identified, with no more than two individuals sharing a single haplotype. The haplotype diversity (HD) was 0.9935, and gene diversity (D) over loci was 0.457 ± 0.137. The Idaho Basque population was compared to the source population from the Basque autonomous region of Northern Spain and Southern France, as well as a United States Caucasian population. The haplotype diversity for the immigrant Basque sample is within 0.4% of the haplotype diversity of the European Basques (0.9903); thus the power of discrimination is similar for each population. The Idaho Basque population has less diversity in 9 out of 16 loci (considering DYS385a/b together) and 3% less diversity across all loci, compared to the European Basque population. A multidimensional scaling analysis (MDS) was created using pairwise R(ST) values to compare the Idaho Basques to other populations. Based upon R(ST) and F(ST) measures, no significant differentiation was found between the Idaho and source European Basque population.  相似文献   

16.
Female northern muriquis (Brachyteles arachnoides hypoxanthus or B. hypoxanthus) at the Estação Biológica de Caratinga/RPPN-FMA, Minas Gerais, Brazil typically disperse from their natal groups at an average age of 6.1±0.6 years (median =6.0 years, range =5.3–7.8 years, n =22), prior to the onset of puberty and sexual activity. Immigrants do not conceive until at least their second mating season, and the minimum interval from immigration to first reproduction has been 2.0 years. Age at first reproduction in dispersing females, previously estimated at 8.9 years, has now been documented at 9.0 and 9.25 years for two females whose birth dates are known. This is older than the 7.5 years at which the only female previously known to have reproduced in her natal group gave birth. Here, we present new data from a second female that reproduced in her natal group. This female (BA) was first observed to copulate at 5.5 years, and gave birth to her first infant at 7.25 years of age. Her 1.75-year cycling-to-first conception delay was only slightly shorter than the minimum recorded for immigrant females, and thus was not responsible for her young age at first reproduction compared to dispersing females. Although our sample size is small, our findings suggest that early puberty may permit females to reproduce in their natal group, implying a possible link between life history trade-offs and dispersal patterns. Because the only two females that have reproduced in their natal group were maternal sisters, it is also possible that maternal effects on age at puberty can impact dispersal patterns, particularly in small populations of primates.  相似文献   

17.
From parent populations (N = 50,000) statistically generated, representing different levels of correlation (r) between the age at death and a hypothetical biological indicator (r = 0.8-0.98), reference samples and target demographic samples are randomly drawn. Two iterative techniques, proportional fitting procedure and Bayesian, are used to estimate from the reference samples the age distribution of the targets. Due to the random fluctuations of the pattern of aging, both in the reference and target samples, these techniques converge only in expectation toward the true value of a distribution, but not in practice for any particular realization. Nevertheless, these techniques allow the estimation of the average of an age distribution, even if its shape is unknown. Under the hypothesis that the target sample is drawn from a stationary population, this average represents the life expectancy at 20 years (plus 20 years). Using this mean age at death for the adults and the juvenility index at death (D5-14/D20-ω), a new set of paleodemographic estimators were derived from 40 archaic life tables. For a hypothesized stable population, they give the life expectancy at birth and at 20 years, and the probability of death at 1 and 5 years. © 1996 Wiley-Liss, Inc.  相似文献   

18.
The genetic and linguistic peculiarity of the Basque population is well known. Analysis of the studies published to date on the Basque population reveals that these studies refer basically to the provinces of Vizcaya and Labourd, both in the Northern part of the Basque Country. Multidisciplinary information indicates that the landscape differences of the Basque Country could have conditioned differential population biodynamics in the Atlantic and Mediterranean parts of the Basque area. In order to evaluate this possibility, this study focuses on the genetic constitution of the Basque population of Alava (in the South of the Basque Country) through the analysis of several red-cell systems. The data obtained in this genetic study and those from archaeology, linguistics, ethnography, and skeletal biology suggest that within the “Basque population” there may be at least two distinct groups: an “Atlantic” group and a “Mediterranean” one, divided mainly by the watershed. This geographical feature could have led to a greater genetic isolation of the Northern slopes, with the South more open to population contact. This is reflected nowadays in the different cline distribution detected for most systems in the Alava Basques in comparison with other Basque and Iberian Peninsula series studied to date. © 1996 Wiley-Liss, Inc.  相似文献   

19.
The Basque population is one of the oldest populations of Europe. It has been suggested that the Basques arose from a population established in western Europe during the late Paleolithic Age. The Basque language (Euskera) is a supposedly pre-Indo-European language that originates from the first settlers of Europe. The variable distribution of the major cystic fibrosis (CF) mutation (delta F508 deletion) in Europe, with higher frequencies of the mutation in northern Europe and lower frequencies in southern Europe, has suggested that the delta F508 mutation was spread by early farmers migrating from the Middle East during the Neolithic period. We have studied 45 CF families from the Basque Country, where the incidence of CF is approximately 1/4,500. The birthplaces of the parents and grandparents have been traced and are distributed according to their origin as Basque or Mixed Basque. The frequency of the delta F508 mutation in the chromosomes of Basque origin is 87%, compared with 58% in those of Mixed Basque origin. The analysis of haplotypes, both with markers closely linked to the CF gene and with intragenic markers, suggests that the delta F508 mutation was not spread by the Indo-European invasions but was already present in Europe more than 10,000 years ago, during the Paleolithic period.  相似文献   

20.
We have analyzed dermatoglyphic finger patterns in a Spanish Basque population (841 males and 911 females). Bimanual and sexual comparisons have been carried out by means of contingency analysis. The results in the Basque population are compared with those of other Spanish populations, based on univariate (chi 2 contingency test and Student's t-test) and multivariate (principal components analyses) statistical methods. Bilateral distribution asymmetry and sexual dimorphism were observed in the Basque sample. The results of the chi 2 test for pattern types in males and females show statistically significant differences between the Basques and other Spanish populations, with the exception of the males from El Bierzo. Comparing populations with regard to the Pattern Intensity Index, the differences observed are much lower; therefore, this confirms what other authors have suggested regarding the limited usefulness of indexes in populational comparisons. In the Caucasian variation range of pattern types, Basques are located in the high part with regard to arches, in the low part with regard to whorls and radial loops, and in an intermediate part in relation to ulnar loops and overall pattern intensity. Results of the multivariate comparisons show which populations are more or less distant from the Basque population and which variables are significant in contributing to these population relationships.  相似文献   

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