首页 | 本学科首页   官方微博 | 高级检索  
相似文献
 共查询到20条相似文献,搜索用时 15 毫秒
1.
P K Das 《Human heredity》1975,25(6):461-471
Sera from 39 individuals with suxamethonium apnoea have been examined. The likelihood of the ChU1ChD1 heterozygotes developing suxamethonium apnoea has been calculated. The results indicate that 1 in 4,000 of normal homozygotes and 1 in 400 of ChU1ChD1 heterozygotes develop suxamethonium apnoea. The period of suxamethonium apnoea in these individuals has been found shorter than that usually seen in ChD1ChD1 homozygotes. An approximate estimate of the frequency of the ChF1 and ChS1 genes has also been calculated. Twelve British families of these suxamethonium apnoea propositi have been examined. The inheritance pattern in all these families was found to be of the Mendelian type. Three of these families have been found to be segregating for the rarer ChF1 gene and two for ChS1 gene, respectively. This present study provides an additional piece of support to the hypothesis that the ChF1 and ChS1 are alleles determining the synthesis of usual and atypical cholinesterase together with the likelihood of ChU1ChD1 heterozygotes having occasional suxamethonium apnoea. In addition, the present report indicates that there may be cholinesterase variants besides dibucaine and fluoride-resistant, 'silent' and C5.  相似文献   

2.
南京市正常人群NQO1、CYP1A1、mEH基因的多态性研究   总被引:2,自引:0,他引:2  
应用PCR技术,对南京市正常人群中NQO1、CYP1A1、mEH-外显子3、mEH-外显子4基因型多态性进行了研究。88例样本中,相关基因野生型纯合子(wt/wt)、杂合子(wt/vt)、突变型纯合子(vt/vt)三种基因型的频率分布及基因频率分别是:NQO1 29.5%(0.304),51.1%(0.495)和19.3%(0.202);CYP1A?135.2%(0.329)、44.3%(0.489)和20.5%(0.181);mEH-外显子3为26.1%(0.297),56.8%(0.496),17.0%(0.207);mEH-外显子4为83.0%(0.826),15.9%(0.165),1.1%(0.008)。以上结果与国外的有关报道存在一定差异,在不同地区中国人群的频率分布特征基本一致,种族差异可能是造成有关基因型分布差异的重要原因。 Abstract:The polymorphisms of NQO1, CYP1A1, mEH-Exon3 ,and mEH-Exon4 genes in normal Nanjing population (88 cases) were investigat ed by PCR approach. The results showed that the population frequency distributio ns of genotypes of wild-type,heterozygote, homozygous variant were respectively: NQO1? 29.5%,51.1%,19.3%;CYP 1A1 35.2%,44.3%,20.5%;mEH-exon3 26.1 %,56.8%,17.0%;mEH-exon4 83.0%,15.9%,1.1%. The frequency distributions o f genotypes in Nanjing population differ from those of other countries and do no t show marked differences compared with other different area in Chinese populati on. The ethnic difference might be an important reason which results in the diff erences of related genotypes.  相似文献   

3.
Hemoglobin characteristics were investigated in 492 blood specimens collected in a small island community (1,450 inhabitants) in the Bahamas. Using two different methods, abnormal variants were detected in 20.3% of the sample, including genotypes AS, AC, AF(A/HPFH), SC, and SF. Biodemographic evidence suggests that the origin and distribution of the hemoglobinpathies in this population have been influenced by historical migrations and genetic drift. The opportunity for drift has been particularly heightened by the “founder effect,” the maintenance of small population size, a relatively endogamous mating structure, and restricted immigration. Health survey results reveal a wide discrepancy between the actual prevalence of abnormal hemoglobins and that indicated by informant reports.  相似文献   

4.
Yao C  Ding Y  Cai W  Wang C  Girton J  Johansen KM  Johansen J 《Chromosoma》2012,121(2):209-220
The chromodomain protein, Chromator, can be divided into two main domains, a NH2-terminal domain (NTD) containing the chromodomain (ChD) and a COOH-terminal domain (CTD) containing a nuclear localization signal. During interphase Chromator is localized to chromosomes; however, during cell division Chromator redistributes to form a macro molecular spindle matrix complex together with other nuclear proteins that contribute to microtubule spindle dynamics and proper chromosome segregation during mitosis. It has previously been demonstrated that the CTD is sufficient for targeting Chromator to the spindle matrix. In this study, we show that the NTD domain of Chromator is required for proper localization to chromatin during interphase and that chromosome morphology defects observed in Chromator hypomorphic mutant backgrounds can be largely rescued by expression of this domain. Furthermore, we show that the ChD domain can interact with histone H1 and that this interaction is necessary for correct chromatin targeting. Nonetheless, that localization to chromatin still occurs in the absence of the ChD indicates that Chromator possesses a second mechanism for chromatin association and we provide evidence that this association is mediated by other sequences residing in the NTD. Taken together these findings suggest that Chromator's chromatin functions are largely governed by the NH2-terminal domain whereas functions related to mitosis are mediated mainly by COOH-terminal sequences.  相似文献   

5.
A survey of spatial and temporal variation in the frequency of electrophoretically defined genotypes in the geometrid moth Alsophila pometaria revealed a high diversity of uncommon or rare asexual genotypes and clinal distributions of two of the more common clones. There was substantial year-to-year variation in genotype frequencies in seven of eleven sites. Progeny tests have revealed that sexual reproduction is uncommon in two populations and that new asexual genotypes arise from the sexual population. The recurrent origin of asexual genotypes is likely to account for the high genetic and ecological diversity of the asexual contingent of this species' populations, in contrast to the lower genetic diversity in some obligately asexual species in which such recruitment does not occur.  相似文献   

6.
尹立红  浦跃朴  林嫔嫔 《遗传》2001,23(3):199-202
应用PCR技术,对南京市正常人群中NQO1、CYP1A1、Meh-外显子3、Meh-外显子4基因型多态性进行了研究。88例样本中,相关基因野生型纯合子(wt/wt )、杂合子(wt/vt)、突变型纯合子(vt/vt)三种基因型的频率分布及基因频率分别是:NQO1 29.5%(0.304),51.1%(0.495)和19.3%(0.202);CYP1A1 35.2%(0.329)、44.3%(0.489)和20.5%(0.181);Meh-外显子3为26.1%(0.297),56.8 %(0.496),17.0%(0.207);Meh-外显子4为83.0% (0.826),15.9%(0.165),1.1%(0.00 8)。以上结果与国外的有关报道存在一定差异,在不同地区中国人群的频率分布特征基本一致,种族差异可能是造成有关基因型分布差异的重要原因。  相似文献   

7.
Expansive vascular remodeling is considered a feature of vulnerable plaques. Although inflammation is upregulated in the media and adventitia of atherosclerotic lesions, its contribution to expansive remodeling is unclear. We investigated this issue in injured femoral arteries of normo- and hyperlipidemic rabbits fed with a conventional (CD group; n=20) or a 0.5% cholesterol (ChD group; n=20) diet. Four weeks after balloon injury of the femoral arteries, we examined vascular wall alterations, localization of macrophages and matrix metalloproteases (MMP)-1, -2, -9, and extracellular matrix. Neointimal formation with luminal stenosis was evident in both groups, while expansive remodeling was observed only in the ChD group. Areas immunopositive for macrophages, MMP-1, -2 and -9 were larger not only in the neointima, but also in the media and/or adventitia in the injured arterial walls of the ChD, than in the CD group. Areas containing smooth muscle cells (SMCs), elastin and collagen were smaller in the injured arterial walls of the ChD group. MMP-1, -2 and -9 were mainly localized in infiltrating macrophages. MMP-2 was also found in SMCs and adventitial fibroblasts. Vasa vasorum density was significantly increased in injured arteries of ChD group than in those of CD group. These results suggest that macrophages in the media and adventitia play an important role in expansive atherosclerotic remodeling via extracellular matrix degradation and SMC reduction.  相似文献   

8.
9.
A commonly used tool in disease association studies is the search for discrepancies between the haplotype distribution in the case and control populations. In order to find this discrepancy, the haplotypes frequency in each of the populations is estimated from the genotypes. We present a new method HAPLOFREQ to estimate haplotype frequencies over a short genomic region given the genotypes or haplotypes with missing data or sequencing errors. Our approach incorporates a maximum likelihood model based on a simple random generative model which assumes that the genotypes are independently sampled from the population. We first show that if the phased haplotypes are given, possibly with missing data, we can estimate the frequency of the haplotypes in the population by finding the global optimum of the likelihood function in polynomial time. If the haplotypes are not phased, finding the maximum value of the likelihood function is NP-hard. In this case, we define an alternative likelihood function which can be thought of as a relaxed likelihood function. We show that the maximum relaxed likelihood can be found in polynomial time and that the optimal solution of the relaxed likelihood approaches asymptotically to the haplotype frequencies in the population. In contrast to previous approaches, our algorithms are guaranteed to converge in polynomial time to a global maximum of the different likelihood functions. We compared the performance of our algorithm to the widely used program PHASE, and we found that our estimates are at least 10% more accurate than PHASE and about ten times faster than PHASE. Our techniques involve new algorithms in convex optimization. These algorithms may be of independent interest. Particularly, they may be helpful in other maximum likelihood problems arising from survey sampling.  相似文献   

10.
In breeding programs, commercial hybrids are frequently used as a source of inbred lines to obtain new hybrids. Considering that maize production is dependent on viable gametes, the selection of populations to obtain inbred lines with high meiotic stability could contribute to the formation of new silage corn hybrids adapted to specific region. We evaluated the meiotic stability of five commercial hybrids of silage corn used in southern Brazil with conventional squashing methods. All of them showed meiotic abnormalities. Some abnormalities, such as abnormal chromosome segregation and absence of cytokinesis, occurred in all the genotypes, while others, including cytomixis and abnormal spindle orientation, were found only in some genotypes. The hybrid SG6010 had the lowest mean frequency of abnormal cells (21.27%); the highest frequency was found in the hybrid P30K64 (44.43%). However, the frequency of abnormal meiotic products was much lower in most genotypes, ranging from 7.63% in the hybrid CD304 to 43.86% in Garra. Taking into account the percentage of abnormal meiotic products and, hence, meiotic stability, only the hybrids CD304, P30K64, SG6010, and P30F53 are recommended to be retained in the breeding program to obtain inbred lines to create new hybrids.  相似文献   

11.
BackgroundLeft ventricular systolic dysfunction (LVSD) in Chagas disease (ChD) is relatively common and its treatment using low-cost drugs can improve symptoms and reduce mortality. Recently, an artificial intelligence (AI)-enabled ECG algorithm showed excellent accuracy to detect LVSD in a general population, but its accuracy in ChD has not been tested.ObjectiveTo analyze the ability of AI to recognize LVSD in patients with ChD, defined as a left ventricular ejection fraction determined by the Echocardiogram ≤ 40%.Methodology/principal findingsThis is a cross-sectional study of ECG obtained from a large cohort of patients with ChD named São Paulo-Minas Gerais Tropical Medicine Research Center (SaMi-Trop) Study. The digital ECGs of the participants were submitted to the analysis of the trained machine to detect LVSD. The diagnostic performance of the AI-enabled ECG to detect LVSD was tested using an echocardiogram as the gold standard to detect LVSD, defined as an ejection fraction <40%. The model was enriched with NT-proBNP plasma levels, male sex, and QRS ≥ 120ms.Among the 1,304 participants of this study, 67% were women, median age of 60; there were 93 (7.1%) individuals with LVSD. Most patients had major ECG abnormalities (59.5%). The AI algorithm identified LVSD among ChD patients with an odds ratio of 63.3 (95% CI 32.3–128.9), a sensitivity of 73%, a specificity of 83%, an overall accuracy of 83%, and a negative predictive value of 97%; the AUC was 0.839. The model adjusted for the male sex and QRS ≥ 120ms improved the AUC to 0.859. The model adjusted for the male sex and elevated NT-proBNP had a higher accuracy of 0.89 and an AUC of 0.874.ConclusionThe AI analysis of the ECG of Chagas disease patients can be transformed into a powerful tool for the recognition of LVSD.  相似文献   

12.
The phenology of different genotypes and the distribution of genetic variation among flowering plants and their progeny were examined to assess the levels of assortative mating and selection in a hybrid population of Iris. This study and a previous survey of RAPD nuclear markers and chloroplast markers indicate that the population consists of parental genotypes and recombinant hybrid genotypes that are similar to the parental species (I. fulva and I. brevicaulis), although lacking intermediate genotypes. Early in the season only I. fulva genotypes produced flowers, but as flowering in these plants decreased, the hybrid genotypes and I. brevicaulis genotypes began flowering, resulting in a 24-d period of coincidental flowering. The genotypic distribution of seeds produced during the period of flowering overlap contained a high frequency of intermediate genotypes that were not present in the adult generation. The degree of effective assortative mating was examined by comparing the observed progeny genotypic distributions with expected distributions from a mixed-mating model. The model included selfing and random outcrossing to the nearest plants that had pollen-bearing flowers on the day the recipient flower was receptive. The observed genotypic distribution of progeny from plants with I. brevicaulis chloroplast DNA (cpDNA) was not significantly different from the expected distribution. For I. fulva genotypes, however, there were higher than expected frequencies in the extreme genotypic classes, although intermediate genotypes were absent, indicating that these plants were preferentially mating with similar genotypes. Compared with the extreme genotypes, a larger proportion of the intermediate seed progeny produced were aborted, indicating that intermediate genotypes have lower viability. On the basis of the observed progeny genotypes and genetic disequilibria estimates for the adults and the progeny, there appears to be a pattern of effective asymmetrical mating in this population. This asymmetry is most likely due to pollen-style interactions that reduce the fertilization ability of genetically dissimilar pollen, or preferential abortion of genetically intermediate zygotes by I. fulva-like genotypes. The lack of any apparent discrimination by I. brevicaulis-like genotypes creates a directional exchange of nuclear genetic elements that will have implications for introgression and the evolution of hybrid genotypes.  相似文献   

13.
Chagas disease (ChD) affects millions of people worldwide, being endemic in Latin America and emerging in the United States and Europe. Classically described as targeting the heart and gastrointestinal tract, Trypanosoma cruzi parasitism leads to structural and pro-inflammatory changes in the adipose tissue and pancreas. The effects of these changes on insulin resistance (IR), beta cell dysfunction, diabetes mellitus (DM),and metabolic syndrome (MS) are unclear. We aim to evaluate the association of ChD with DM, IR, beta cell dysfunction and MS in the baseline of multi-centric cohort study ‘Brazilian Longitudinal Study of Adult Health’ (ELSA-Brasil). This cross-sectional analysis included 14,922 (98%) participants of ELSA-Brasil at baseline. To investigate the associations of ChD with DM, IR (assessed by HOMA-IR) and beta cell dysfunction (assessed by HOMA beta), and MS we fitted logistic regression models including socio-demographic and anthropometric variables, health-related conditions and laboratory results. ChD, defined by positive serology, was prevalent in 1.9% (n = 283) of the sample, 17.3% (n = 49) of whom had cardiomyopathy. DM prevalence was 17.25% (n = 2574) and was not different among those with and without ChD (20.5% vs 17.2%; p = 0.28). Fasting and 2 h-blood glucose after a 75 g anhydrous glucose were slightly higher among participants positive for ChD, when compared with those with negative serology (102 mg/dL versus 100 mg/dL, respectively; and 127 mg/dL versus 124 mg/dL, respectively), only in univariate analysis. There was no significant association between these variables and ChD after adjustments. In addition, there was no significant association between DM, IR, beta cell dysfunction or MS and ChD (without and with cardiomyopathy). Our results showed that ChD, regardless of the presence of cardiomyopathy, is not associated with DM, IR, beta cell dysfunction or MS. These findings suggest the parasitism of the adipose tissue and pancreas in Chagas disease do not translate into clinically relevant glucose abnormalities.  相似文献   

14.
In a survey in the Exeter area 139 patients with some degrees of abnormal atrioventricular conduction were notified by 282 family doctors. Per 100,000 of the population the prevalence of second-degree and thrid-degree heart block was estimated to be 17·3, of complete block past or present 15·6, and of complete block at the time of survey 13·1. Heart block was commoner in men than women, the sex ratio being 1·4 to 1; its prevalence increased steeply with age, and the morbidity rate was less than that reported by others. If the morbidity figures quoted in this survey are representative of the general population, it reaffirms the policy that pacemakers should be recommended for selected patients only.  相似文献   

15.
Whereas the importance of frequency-dependent selection in life-history traits, behavioral characters and source allocation patterns is widely accepted, its role in governing biochemical and molecular polymorphisms remains poorly understood. Here we demonstrate a case of allozyme frequency-dependent selection. When olive fruit flies (Bactrocera oleae) are reared on an artificial larval medium, an allele at the alcohol dehydrogenase locus that is present in very low frequency in natural populations increases to about one-third in less than five generations. We show here that the time from the hatching of the egg to the eclosion of the adult is affected by the genotype composition of the larval population that grows in the same cup of food. Cultures consisting of one genotype only have the longest developmental time, and two-allele cultures in which the two homozygotes and the heterozygote occur in a 1:1:2 ratio show the shortest developmental time. Cultures with intermediate genotypic compositions show intermediate levels of developmental time. The results can be explained by assuming that the developmental time of a genotype depends on the frequency array of all genotypes in the larval population and is not merely a function of its own frequency. It is even possible that the developmental time of a genotype becomes longer as the genotype becomes rarer, yet the genotype will be favored because the developmental times of the competing genotypes become even longer owing to the associated increase of their frequencies. Given that developmental time is inversely related to fitness, this generates a frequency-dependent selection, with developmental times changing progressively until the population arrives at an equilibrium. One optimum population composition that provides a satisfactory fit to allele frequency changes in our experimental populations is when the two alleles occur in equal frequencies and genotypes are in Hardy-Weinberg proportions. We argue that this type of selection is consistent with the role of alcohol dehydrogenase as a detoxifying enzyme in a medium that undergoes continuous chemical changes during its use by the feeding larvae.  相似文献   

16.
Identification of higher risk individuals carrying genetic polymorphisms responsible for reduced DNA repair capacity has substantial preventive implications as these individuals could be targeted for cancer prevention. We have conducted a study to assess the predictivity of the OGG1, XRCC1 and XRCC3 genotypes and the in vitro single strand break repair phenotype for the induction of genotoxic effects. At the population level, a significant contribution of the OGG1 genotypes to the in vitro DNA strand break repair capacity was found. At an individual level, the OGG1 variants Ser/Cys and Cys/Cys genotypes showed a slower in vitro DNA repair than the Ser/Ser OGG1genotype. A multivariate analysis performed with genotypes, age, cumulative dose, exposure status and smoking as independent variables indicated that in the control population, repair capacity is influenced by age and OGG1 polymorphisms. In the exposed population, DNA damage is greater in older men and in smokers. Repair capacity is slower in individuals with Ser/Cys or Cys/Cys OGG1 genotypes compared to those with the Ser/Ser OGG1 genotype. Micronuclei (MN) frequencies increased with age and the cumulative dose of gamma-rays. Analysis of the total population revealed that genetic polymorphisms in XRCC1 resulted in higher residual DNA (RDNA) values and the Met/Met variant of XRCC3 resulted in an increased frequency of micronuclei. The analysis confirms that MN frequencies are reliable biomarkers for the assessment of genetic effects in workers exposed to ionising radiation (IR). A combined analysis of the three genotypes, OGG1, XRCC1 and XRCC3 polymorphisms is advised in order to assess individual susceptibility to ionising radiation. As an alternative or complement, the in vitro DNA strand break repair phenotype which integrates several repair pathways is recommended. Smokers with OGG1 polymorphisms who are exposed to ionising radiation represent a specific population requiring closer medical surveillance because of their increased mutagenic/carcinogenic risk.  相似文献   

17.
J. A. McKenzie 《Genetics》1976,82(4):685-695
The prospect of autocidal insect control was investigated in a cellar population of D. melanogaster using a compound-chromosome stock. The released stock was synthesized by irradiating virgin female progeny derived from the cellar and crossing to a second-chromsome compound laboratory stock. Incorporation of an appropriate genetic background into the compound stock was tested in laboratory studies. Larval development to adult emergence and adult survival studies indicated the compound release stock to be relatively similar to the wild population, while behavioral tests detected no mating isolation between wild or compound genotypes. An unstable equilibrium point of compound frequency 0.7 was observed in population cage experiments with the two genotypes.

Adults were released into the cellar at a 50:1 ratio in favor of the compound. Five hundred newly hatched compound-chromosome larvae were also released. Adult, larval and pupal samples were regularly made. The compound stock successfully bred in the cellar maintaining an adult frequency of at least 90% for 108 days after the release. The rapid decline in compound frequency after this period is thought to be due to the migration of inseminated wild-type females from wine storage areas adjacent to the cellar.

The results indicate that a compound stock may limit the rate of population expansion in an area and may be a useful mechanism of autocidal control. It cannot be overemphasized that the probability of a successful release will be related to the level of understanding of the adaptive strategy of the population into which the release is made.

  相似文献   

18.
Nur U  Brett BL 《Genetics》1987,115(3):499-510
Isofemale lines of Pseudococcus affinis (Maskell ) differ in their ability to maintain B chromosomes (Bs) due to the presence of genotypes that affect the rate of transmission (k) of the Bs. The nature of these genotypes was analyzed by comparing ks of males carrying the same B and the same paternal genome (which is heterochromatic), but differing in their maternal genome. In males from line L-60, which maintained the B at a frequency of over 4.0 Bs per individual, the mean k varied between 0.7 and 0.95 in different experiments. Over the same period, the mean k of males with a maternal genome from one of two lines in which the B was rapidly lost (L-119), increased from 0.5 to 0.9, and that of the other line (L-230) decreased gradually from 0.6 to less than 0.1. The ks appear not to be correlated with the geographical or parental origin of the B. The observed changes in k are attributed at least in part to changes in the frequency of genotypes (alleles) which can drastically reduce the transmission of the B and, when present in high frequency, can lead to its rapid loss. The frequency distribution of the ks of sons of F(1) females from the cross L-230 x L-60 suggests that the two lines differ at two unlinked loci with additive effects on k. The genome of L-119 also caused the B to undergo nondisjunction in about 10% of the primary spermatocytes. A comparison between the ks of the males tested and those of males from a natural population suggests that in that population the B is "parasitic" and that the frequency of transmission-reducing genotypes is low.  相似文献   

19.
G G Partridge 《Heredity》1979,43(2):239-246
Resistance to warfarin and an increased vitamin K requirement appear to be pleiotropic effects of the same allele (Rw2). In a natural population containing resistant individuals where the use of warfarin is discouraged the change in the frequency of resistance should reflect the relative fitnesses of the three possible genotypes. A large polymorphic population of rats was extensively poisoned with warfarin and the level of resistance monitored regularly for a period of 18 months after withdrawal of the poison. During this period the proportion of resistant animals in live-capture samples decreased significantly from approximately 80 per cent to 33 per cent. This decline is consistent with a hypothesis of reduced fitness of both Rw2Rw2 and Rw1Rw2 genotypes relative to Rw1Rw1 under natural conditions. The relative fitnesses of these genotypes were calculated using an optimisation method based on least squares analysis. These estimates were: Rw2Rw2 (0.46), Rw1Rw2 (0.77) and Rw1Rw1 (1.00). Homozygous resistant individuals were found in some of the samples, confirming that the Rw2 allele does not act as a recessive lethal, although it must be extremely disadvantageous. Some heterogeneity was observed in the proportion of resistant animals in samples taken from different areas of the farm building complex. This could reflect stochastic processes influencing the Rw2 allele frequency in small peripheral populations.  相似文献   

20.
Negative frequency‐dependent selection among species is a key driver of community diversity in natural systems, but the degree to which negative frequency‐dependent selection shapes patterns of survival and genetic diversity within species is poorly understood. In a 5‐year field experiment, we show that seedlings of a tropical palm with rare genotypes had a pronounced survival advantage over seedlings with common genotypes, with effect sizes comparable to that of light availability. This ‘rare genotype advantage’ led to an increase in population‐wide genetic diversity among seedlings compared to null expectations, as predicted by negative frequency‐dependent selection, and increased reproductive success in adult trees with rare genotypes. These results suggest that within‐species negative frequency‐dependent selection of genotypes can shape genetic variation on ecologically relevant timescales in natural systems and may be a key, overlooked source of non‐random mortality for tropical plants.  相似文献   

设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号