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PubMed1991

The genetic structure of natural populations of Drosophila melanogaster. XXII. Comparative study of DNA polymorphisms in northern and southern natural populations.

Restriction map variation in four gene regions (Adh, Amy, Pu and Gpdh) was surveyed for 86 second chromosomes from northern (Aomori) and southern (Ogasawara) Japanese populations of Drosophila melanogaster (43 chromosomes from each population). The regions examined cover a total of 62 kilobases. Estimates of nucleotide diversity (pi) were approximately constant across the gene regions and populations examined. The distribution of restriction site polymorphisms was compatible with the expectation from the neutral mutation-random genetic drift hypothesis, but insertion/deletion polymorphisms were not consistent with it. While the two populations shared a majority of restriction site polymorphisms, frequencies of individual restriction site variants were significantly different between the two populations at 7 out of 35 segregating sites. In addition, an insertion in the Amy region was found in 15 chromosomes from the Ogasawara sample but absent in the Aomori sample. A considerable difference was observed in the number of rare insertions and deletions between the two populations. The numbers of aberrations uniquely represented were 16 in the Ogasawara sample and only 3 in the Aomori sample. These findings suggest that the two populations were differentiated from each other to some degree by means of random genetic drift and/or other factors.

Alcohol Dehydrogenase↗
PubMed1996

Population genetics and gene variation of stable fly populations (Diptera:Muscidae) in Nebraska.

Genetic variation in stable fly, Stomoxys calcitrans (L.), populations from Nebraska, Canada, and Texas was sampled. Four of 12 allozyme loci were polymorphic, with an average of 1.7 alleles per locus. Observed and expected heterozygosities were 0.086 and 0.070, respectively. Nei's genetic distance between populations averaged 0.001 and ranged from 0.000 to 0.005. Wright's F statistics revealed greater variation within than among populations. Allele frequencies were homogeneous among temporal samples from a single population. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis of 6.4 kb of the mitochondrial DNA genome with 16 restriction enzymes revealed no variation in stable fly populations from Canada, Nebraska, and Texas. PCR-RFLP analysis of a 2.0-kb fragment of the nuclear ribosomal DNA internally transcribed spacer region also revealed no variation. The lack of genetic differentiation among stable fly populations indicates high levels of gene flow among populations. The low levels of variation observed with biochemical and molecular techniques are consistent with a genetic bottleneck during stable fly colonization of North America.

Animals↗
PubMed1996

Impact of epidemic and individual heterogeneity on the population distribution of disease progression rates. An example from patient populations in trials of human immunodeficiency virus infection.

Patients at the same stage of chronic disease may have had different rates of disease progression. The authors developed a mathematical modeling approach that allows reconstructing and comparing populations in terms of the disease progression rates of their participants when the disease onset and progression rates are unknown for individual patients. Human immunodeficiency virus 1 infection was used as an example. Both published and hypothetical models were used to describe the human immunodeficiency virus 1 epidemic (epidemic heterogeneity) and incubation and survival functions for different disease stages (individual heterogeneity). Reconstructions of populations with late disease (e.g., acquired immunodeficiency syndrome patients) show a marked predominance of rapid progressors, unless the incidence of new infections has been decreasing for a long time. Rapid progressors would also predominate in populations of acute seroconverters, unless diagnosis is based on repeated serologic screening rather than symptoms. Populations of patients who have not progressed beyond an early stage of the disease (e.g., patients with CD4 cell counts > 500/microliter) tend to overrepresent slow progressors, especially if the epidemic has been decreasing for a long time. With this approach, one can assess whether the target population of a clinical trial is comparable with other patient populations at different places and times. Epidemic and individual diversity may even affect trial results if patients with different progression rates experience different benefits from a treatment. By modeling the targeted populations in trials of early versus deferred antiretroviral treatment, the authors observed larger treatment benefits in trials in which rapid progressors probably predominated, compared with trials of slow progressors.

Acquired Immunodeficiency Syndrome↗
PubMed2002

Evolution of functionally conserved enhancers can be accelerated in large populations: a population-genetic model.

The evolution of cis-regulatory elements (or enhancers) appears to proceed at dramatically different rates in different taxa. Vertebrate enhancers are often very highly conserved in their sequences, and relative positions, across distantly related taxa. In contrast, functionally equivalent enhancers in closely related Drosophila species can differ greatly in their sequences and spatial organization. We present a population-genetic model to explain this difference. The model examines the dynamics of fixation of pairs of individually deleterious, but compensating, mutations. As expected, small populations are predicted to have a high rate of evolution, and the rate decreases with increasing population size. In contrast to previous models, however, this model predicts that the rate of evolution by pairs of compensatory mutations increases dramatically for population sizes above several thousand individuals, to the point of greatly exceeding the neutral rate. Application of this model predicts that species with moderate population sizes will have relatively conserved enhancers, whereas species with larger populations will be expected to evolve their enhancers at much higher rates. We propose that the different degree of conservation seen in vertebrate and Drosophila enhancers may be explained solely by differences in their population sizes and generation times.

Animals↗
PubMed2005

Population dynamics of the 2 major mitochondrial DNA haplotypes in experimental populations of Drosophila subobscura.

The evolution of Drosophila subobscura mitochondrial DNA has been studied in experimental populations, founded with flies from a natural population from Calvià (Majorca, Balearic Islands, Spain). This population, like others founded in Europe, is characterized by the presence of 2 very common (>95%) mitochondrial haplotypes (named I and II) and rare and endemic haplotypes that appear at very low frequencies. Four experimental populations were established with flies having a heterogeneous nuclear genetic background, which was representative of the composition of the natural population. The populations were started with haplotypes I and II at an initial frequency of 50% each. After 33 generations, the 2 haplotypes coexisted. Random drift could be rejected as the only force responsible for the observed changes in haplotype frequencies. A slight but significant linear trend favouring a mtDNA (haploid) fitness effect has been detected, with a nonlinear deviation that could be due to a nuclear component. An analysis of chromosomal arrangements was made before the foundations of the cages and at generation 23. Our results indicated that the hypothesis that the maintenance of the frequencies of haplotypes I and II in natural populations could be due to their association with chromosomal arrangements remains controversial.

Animals↗
PubMed2003

A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.

OBJECTIVES: Although several studies describe the 22q11.2 deletion, population-based data are scant. Such data are needed to evaluate properly the impact, distribution, and clinical presentation of the deletion in the population. Our goals were to assess the population-based birth prevalence of the 22q11.2 deletion and its associated phenotype and its impact on the occurrence of heart defects. METHODS: We evaluated data on infants who were born from 1994 through 1999 to women who resided in metropolitan Atlanta. We matched records from the Metropolitan Atlanta Congenital Defects Program (a population-based registry with active case ascertainment), the Sibley Heart Center at Children's Healthcare of Atlanta, and the Division of Medical Genetics at Emory University. We used birth certificate data for the denominators of the rates. RESULTS: We identified 43 children with laboratory-confirmed 22q11.2 deletion among 255 849 births. The overall prevalence was 1 in 5950 births (95% confidence interval: 1 in 4417 to 1 in 8224 births). The prevalence was between 1 in 6000 and 1 in 6500 among whites, blacks, and Asians and 1 in 3800 among Hispanics. Most affected children (81%) had a heart defect, and many (1 in 3) had major extracardiac defects (other than velopalatal anomalies), including anomalies of the central nervous system. Overall, the deletion contributed to at least 1 of every 68 cases of major heart defects identified in the total birth cohort and, in particular, to 1 of every 2 cases diagnosed with interrupted aortic arch type B, 1 of every 5 with truncus arteriosus, and 1 of every 8 with tetralogy of Fallot. CONCLUSIONS: The 22q11.2 deletion was common in this birth population. The clinical phenotype included a wide and variable spectrum of major cardiac and extracardiac anomalies. From these population-based data, one can estimate that at least 700 affected infants are born annually in the United States. Population-based estimates such as these should be useful to medical professionals and policy makers in planning for the optimal care of people with the 22q11.2 deletion.

Abnormalities, Multiple↗
PubMed2002

Molecular phylogeography of the red deer (Cervus elaphus) populations in Xinjiang of China: comparison with other Asian, European, and North American populations.

To illustrate phylogeography of red deer (Cervus elaphus) populations of Xinjiang, we determined their mitochondrial DNA (mtDNA) control region sequences, and then investigated geographic variations and phylogenetic relationships between Xinjiang populations and other populations from Asia, Europe, and North America. The C. elaphus mtDNA control region shared different copy numbers of tandem repeats of 38 to 43-bp motifs which clearly distinguished the Western lineage from the Eastern lineage of this species in Eurasia. The western lineage comprised the Tarim populations from southern Xinjiang and the European populations, all of which had four copies of the motifs. By contrast, the Eastern lineage consisted of populations from northern Xinjiang (Tianshan and Altai Mountains), other Asian areas (Alashan, Gansu, Tibet, Mongolia, and northeastern China), and North America, all of which shared six copies of the motifs. MtDNA phylogenetic trees showed that there are two major clusters of haplotypes which referred to the Western and Eastern lineages, and that subgroupings of haplotypes in each cluster were congruent with their geographic distributions. The present study revealed that a boundary separating the Western lineage from the Eastern lineage occurs between Tarim Basin and Tianshan Mountains in Xinjiang. Meanwhile, North American populations were genetically closer to those of northern Xinjiang, northeastern China, and Mongolia, supporting that C. elaphus immigrated from northeastern Eurasia to North America through the glacier-induced land-bridge (Beringia) which had formed between the two continents after Late Pleistocene.

Animals↗
PubMed2000

[Population genetics of Chinese surnames. II. Inheritance stability of surnames and regional consanguinity of population].

This paper analyzes and compares the distributional curves and isonymy of surnames and the consanguinity of regional population in the Song and Ming dynasties and the 2 present. The distribution of surnames in the three periods reveals two significant phenomena: (1) The historical inheritance of Chinese surnames is continuous and stable. This explains why the consanguineous culture relics represented by surnames and the evolution of life substances especially Y chromosome has basically the same pattern. (2) Two types of surnames, common and rare, can be identified in China. The 100 common surnames, less than 5% of the total number of Chinese surnames, are connected with more than 85% of the population, while the rare surnames, more than 95% of the total number of surnames, are related to only about 15% of the population. The distribution of common surnames acts as the major factor reflecting the genetic composition in different regions, and it determines the historical population migration and the degree of consanguinity between regional populations. The rare surnames are of regional characteristic and relative isolation. As a result, it is possible that the study of Chinese surnames and of the distribution pattern of population with the same surname serves as an important approaches to Chinese paternal genetics and Y chromosome evolution. This may provide valuable clue for the study of population highly subject to genetic diseases.

Biological Evolution↗
PubMed1975

A "super-population viewpoint' for finite population sampling.

Frequently it is reasonable for a sample surveyor to view the finite population of interest as an independent sample of size N from an infinite super-population. This super-population viewpoint is contrasted to the classical frequentist theory of finite population sampling and the classical theory of infinite population sampling. A new technique for making inferences about finite population "parameters' is developed and shown to be applicable for any survey design. Two example applications are given: the estimation of strata- and population means in stratified sampling and the use of the so-called regression estimators for the same purpose.

Humans↗
PubMed2004

[Population-genetic structure of beaver (Castor fiber L., 1758) communities and estimation of effective reproductive size Ne of an elementary population].

The absence of panmixia at all hierarchical levels of the European beaver communities down to individual families implies a complex organization of the population-genetic structures of the species, in particular, a large intergroup component of gene diversity in the populations. Testing this assumption by analysis of 39 allozyme loci in the communities of reintroduced beaver from the Vyatka river basin (Kirov oblast) has shown that only the beaver colonies exhibit high intergroup gene diversity (Gst = 0.32) whereas this parameter is much lower when estimated among beaver groups from individual Vyatka River tributaries and among localities of one of the tributaries (0.07 and 0.11, respectively). The data suggesting genetic heterogeneity among individual settles within colonies have been obtained. The factors affecting the structure of the beaver communities of the lower hierarchical ranks are considered: the common origin, founder effect, selection, gene drift, assortative mating, and social and behavior features of the species. The conclusion is drawn that the founder effect could be the primary factor of population differentiation only at the time of their formation. The heterogeneity among colonies and among settles is maintained largely by isolation of colonies from one another. The strong interspecific competition for food resources, which is behaviorally implemented in the species at the level of minimal structural units (individual settles) creates a profound and unique population-genetic subdivision of the species. These results substantiate the suggestion that an elementary population (micropopulation) of European beaver is a colony, i.e., a set of related settles of different types. Based on ecological and genetic parameters, the effective reproductive size Ne of the minimum beaver population was estimated to be equal to three animals. This extremely low value of effective reproductive population size largely explains the high tolerance of European beaver to inbreeding and striking viability of the species, which from the early 19th century has been for more than hundred years on the brink of survival in the condition which would made any other mammalian species vanish from the Earth.

Animals↗
PubMed2004

[Polymorphism of HLA-DRB1 in Han population in Yunnan and comparison with 9 Han populations].

129 samples of Han population in Yunnan province were detected by polymerase chain reaction and microtitre plate hybridization (PCR-MPH). The samples of DR*15 subgroup being detected by PCR-MPH were further analyzed by Single-Strand Conformation Polymorphism (SSCP). By first polymerase chain reaction and microtitre plate hybridization (PCR-MPH), all of the 129 samples were divided into the following subgroups, viz. DR*01,DR*03,DR*04,DR*0701,DR*08,DR*09012,DR*1001,DR*11,DR*12,DR*13,DR*14,DR*15, DR*1602 and DR*1604. The samples of DR*04, DR*08/12, DR*03/11/13/14 were further detected by second PCR-MPH and the ones of DR*15 by SSCP. 36 kinds of alleles on HLA-DRB1 were detected in these samples. Among them, DRB1*1501(0.1240),DRB1*09012(0.0969), DRB1*08032(0.0930),DRB1*1202(0.0891),DRB1*1201(0.0814), DRB1 *1401(0.0775),DRB1 *0701(0.0620),are the most frequent. The chi(2) test of HLA-DRB1 alleles was done between Yunnan Han and the other 9 Han populations. In detail, comparing with Yunnan Han on the chi(2) test, the chi(2) values of few alleles in the few Han populations was more than 10, they were Xian Han(DR8,chi(2)=13.9712), Shanghai Han(DR4,chi(2)=10.1632), Guangdong Han(DR9,chi(2)=12.6121)and Nanjing Han(DR4,chi(2)=10.5796). Comparing with 9 Han populations, the genetic distance between Yunnan Han and Liaoning Han was the nearest(0.0541),Guangdong Han was the farthest(0.1851). In the 9 Han populations, the genetic distance between Shanghai Han and Nanjing Han was the nearest(0.0122),and the one between Tianjin Han and Shanxi Han was also nearer(0.0219). Based on above analysis, the conclusion may be deduced that the resource of Yunnan Han may be close to Liaoning Han and it was not a typical southern Han population though Yunnan Han are resident in the South. Some gene flow may be exit between Yunnan Han and the local minorities and made Yunnan Han become a special population.

Alleles↗
PubMed1989

[Population genetics study of the functional asymmetry of the brain in native and migrant population of the north-eastern USSR].

It is shown that ethnic groups of the North-East of the USSR (eskimos, coast and reindeer chukchi, koryaks and evens) differ significantly in phenotype frequencies of hemisphere interrelations, and the extent of differences conforms to non-similarity of the cultural and economic structure of these populations. Significant phenotype frequency dynamics observed in new-coming population, depending on the duration of dwelling under the North conditions, makes the phenotype of "long-livers" of the North more distant from the population of middle latitudes and closer to the aboriginal populations. Such a dynamics of phenotypic structure of new-coming populations is due to selective migration of the population. Great adaptability of the right hemisphere relationship type individuals of aboriginal as well as new-coming population to the North-East conditions is grounded. The role of hemisphere relationship type in adaptation to the environmental conditions is under discussion.

Asian People↗
PubMed1997

Population momentum expresses population aging.

Population momentum and population aging occur when an initially growing population experiences a reduction in fertility to replacement level. Conceptually and empirically, momentum and aging express the same change, albeit on different scales. Fundamentally, they are two manifestations of the underlying process of demographic transformation. We consider three measures of aging over the transition to stationarity: the increase in mean population age, the decrease in the proportion under age 30, and the increase in the proportion over age 65. The three measures of aging are highly correlated, though the relationship to momentum is weakest for the increase in the proportion over age 65. We find that momentum is linearly related to aging. In both model and actual populations, a one-year increase in mean age translates into about 4.5% more population growth. The population below age 30 does not grow over the transition to stationarity and the ratio of initial to ultimate proportions under age 30 is virtually identical to momentum.

Adolescent↗
PubMedDate not supplied

Population structure of two black Venezuelan populations studied through their mating structure and other related variables.

In order to obtain information about the population structure of two black Venezuelan populations with historical differences both in their origins and development, a variety of variables were utilized, especially on marital structure, including: frequency of surnames, isonymy, population genealogical consanguinity, multiple unions, and marital distances, all of which provided information and isolation, migration, endogamy, consanguinity, and patri-matrifocality. Results showed differences in the extent of isolation and endogamy, as well as differences in population structure, which can be directly related with historical conditions of each population. Results agree with those previously obtained with traditional genetic polymorphisms and with the historical information available. Thus, the usefulness of surnames for inferring about population structure is supported, as well as the usefulness of historical information for explaining genetic diversity.

Anthropology, Cultural↗
PubMed1988

[Medical genetic study of the population of Kostroma Province. V. The hereditary pathology burden of urban and rural populations].

Medical genetic study was carried out in the urban and rural populations of Kostroma Province. Urban populations were shown to have lower frequencies of "rare" forms of autosomal recessive diseases, in comparison with those in the rural populations. Analysis of interrelationship between genetical structure of populations and prevalencies of hereditary diseases in the populations revealed clear relations between the load of autosomal recessive diseases and the level of inbreeding in the populations.

Chromosome Aberrations↗
PubMed1997

[Population-demographic structure of the population of Kursk district. Ethnic composition and age of marriage].

When studying the marriage structure of the Kurskaya oblast population in 1987-1990, a positive marriage assortativeness with respect to ethnicity was found (K = 0.244). The Russian population exhibited panmixia; in the Ukrainian population, negative marriage assortativeness and panmixia prevailed; other ethnic groups were characterized by more or less pronounced positive marriage assortativeness. The ethnic compositions of raion (district) populations were determined by their geographic location and history. The parameter of marriage assortativeness with respect to age was r = 0.911; this value in the reproductive part of the population was r = 0.748. The age of contracting marriage in the raion populations depended on the extent of their urbanization.

Adolescent↗
PubMed1977

Patterns of death among suicide attempters, a psychiatric population and a general population.

This epidemeological study examines patterns of mortality for a population of suicide attempters, a psychiatric population without suicide attempts, and a general population without psychiatric histories in order to clarify earlier reports of differential risks of death associated with these groups. Mortality patterns were investigated over an 11-year period in terms of demographic characteristics and rates of death by various causes. Suicidal deaths were given special attention to identify variables that may have predictive validity for suicide. The results indicate that the suicide attempter group represents a distinctive demographic and mortality entity from either the psychiatric or general populations, and accounts for much of the increased risk of death previously attributed to the psychiatric population. Further, premature deaths due to suicide are strongly associated with the suicide attempter group. The psychiatric and general populations differ in relatively insignificant ways. These results suggest that a profitable approach to the prevention of suicide would be to focus on individuals who were at high risk within the suicide attempter population. Longer-term follow-up of these individuals is necessary if deaths due to suicide are to be prevented. Difficulties associated with implementation of preventive follow-up programs are also discussed.

Accidents↗
PubMed1991

Bone mass in an urban and a rural population: a comparative, population-based study in southern Sweden.

Several previous studies have reported regional differences in the incidence of hip fractures. A population-based study was performed in the city of Malmö (urban population) and in the municipality of Sjöbo (rural population), 60 km apart. A total of 961 men and women, randomly selected and of Scandinavian ethnic background, participated in the study. Bone mineral content (BMC) of the forearm was measured with single-photon absorptiometry (SPA). Women and men in the city had significantly lower BMC compared with the rural population. The differences were even more pronounced when comparing a true urban population (lived their entire life in a city) with a true rural population (never lived in a city). The differences in BMC between Malmö and Sjöbo were more obvious in men. These data suggest that differences in bone mass between an urban and a rural population could to some extent explain differences in fracture incidence.

Adult↗