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1.
The incidence of hereditary hemochromatosis as well as the predisposition to the iron overload syndrome and sporadic porphyria cutanea tarda are currently believed to be associated with the inheritance of certain allelic variants of the HFE gene. Allele frequencies of the C282Y (845A) and H63D(187G) mutations in theHFE gene in human populations of different races are remarkably different, and the prevalence of the S65C (193T) mutation is still poorly studied. In the present study we estimated allele frequencies ofHFE mutations in Russians and in a number of Siberian ethnic indigenous populations. In Russians, the allele frequencies of the C282Y, H63D andS65C mutations were 3.7, 13.3 and 1.7%, respectively. These values were similar to those observed in populations of Europe. The C282Y mutation was not detected in the population samples of Siberian ethnic groups, including Mansis, Khantys (Finno-Ugric group), Altaians, and Nivkhs (Asians), suggesting that the frequency of this allele in the populations examined was lower than 1%. The frequency of the C282Y allele in the Tuvinian and Chukchi samples (Asians) constituted 0.45 and 0.8%, respectively. Furthermore, pedigree analysis of both identified Chukchi carriers discovered showed that some of their ancestors were from other ethnic groups. Low frequencies of this allelic variant were typical of many Eastern Asian populations, which were also characterized by rather low frequencies of the H63D variant. In contrast, in some ethnic groups of Western Siberia, the allelic frequency of the H63D mutation was rather high, constituting 8.5% in Altaians, 15.5% in Mansis, and 11.3% in Khantys. The frequency of this allele in Tuvinians, Nivkhs, and Chukchis constituted 5.0, 4.7, and 0.8%, respectively. These findings made it possible to estimate the proportion of individuals predisposed to the iron overload syndrome in different Russian ethnic groups. TheHFE allele frequency distribution patterns observed in the populations examined pointed to pre-Celtic appearance of the C282Y allele. It also provides an explanation of the evolutionary genetic relationships between Siberian ethnic groups and the contemporary populations of Eastern and Western Europe.  相似文献   

2.
Summary Plants of the w4-mutable line of soybean [Glycine max (L.) Merr.] are chimeral for anthocyanin pigmentation. Mutable plants produce both near-white and purple flowers, as well as flowers of mutable phenotype with purple sectors on near-white petals. It is established here that the mutable trait is conditioned by an unstable recessive allele of the w4 locus that conditions anthocyanin biosynthesis. The gene symbol w4-m is assigned to the mutable allele. Allele w4-m was derived from a stable, wild-type W4 progenitor allele and reverts at high frequency to a stable, wild-type W4 allele. Reversion occurs both early and late during the development of the germ line. Several experiments give estimates of germinal reversion frequency, indicating that approximately 6% of mutable alleles revert to wild-type from one generation to the next. Allele w4-m exhibits many features typical of an allele controlled by a transposable element.  相似文献   

3.
The allele and genotype frequency distributions of polymorphic markers of genes coding for antioxidant enzymes were compared for type 1 diabetes mellitus patients with or without diabetic polyneuropathy (DPN). The groups (total 180 patients) had nonoverlapping (polar) phenotypes. Group DPN+ included 86 patients with DPN and diabetic record no more than 5 years. Control group DPN– included patients without DPN and diabetic record of at least 10 years. Comparative analysis with Fisher's exact test revealed a significant difference in allele and genotype frequency distributions of the (–262) polymorphic marker of the CAT gene. Polymorphic markers C1167T of the CAT gene, Pro/Leu of the GPX1 gene, 0/+ of the GSTT1 gene, and 0/+ of the GSTM1 gene showed no significant difference in allele or genotype frequency distribution. On this evidence, these markers were not associated with DPN in the sample examined.  相似文献   

4.
Summary Two different factors control the mutability of an unstable allele (c2-m8810581) of the C2 gene of maize. Both an autonomous En/Spm element and an unrelated independent factor, named Mediator, are coordinately required for the excision of the insert in c2-m881058Y. According to genetic analysis, Mediator does not have the suppressor (S) function or mutator (M) function of En/Spm. Mediator has no effect on the timing or frequency of excision of Enl, En-low, or various I/dSpm elements. Hence, Mediator only mediates a specific interaction between En and the insert at c2m881058Y. Molecular analysis of c2-m881058Y has revealed a 3.3 kb, complex, En-related receptor element inserted into the second exon of the C2 gene. The ends of this element are homologous to the ends of En/Spm, but an internal l.7 kb region shows no En/Spm homology. A great degree (11–14%) of nucleotide changes, relative to Enl, occur within and between the 12 bp TNPA binding motifs. Alterations of these critical cis-determinants may account for the need for a helper factor for excision. This element is named Irma, for Inhibitor that requires Mediator also, and represents a unique, low copy number class of receptor element.  相似文献   

5.
In many large-scale conservation or ecological problems where experiments are intractable or unethical, regression methods are used to attempt to gauge the impact of a set of nominally independent variables (X) upon a dependent variable (Y). Workers often want to assert that a given X has a major influence on Y, and so, by using this indirection to infer a probable causal relationship. There are two difficulties apart from the demonstrability issue itself: (1) multiple regression is plagued by collinear relationships in X; and (2) any regression is designed to produce a function that in some way minimizes the overall difference between the observed and predicted Ys, which does not necessarily equate to determining probable influence in a multivariate setting. Problem (1) may be explored by comparing two avenues, one in which a single best regression model is sought and the other where all possible regression models are considered contemporaneously. It is suggested that if the two approaches do not agree upon which of the independent variables are likely to be significant, then the deductions must be subject to doubt.  相似文献   

6.
Allele 4of the apolipoprotein E (APOE) gene is associated with higher risk for family or sporadic Alzheimer's disease (AD) in many, though not all, ethnic groups. The APOEallele and genotype frequency distributions were evaluated in 207 AD patients without vascular disorders, 62 AD patients with vascular disorders (combined AD), and 206 control individuals (ethnic Russians from the Russian population). The frequency of allele 4in patients with early-onset and late-onset AD was three times higher than in controls (P< 0.000001). The increase in the frequency of 4in mixed dementia cases over controls was somewhat less but still significant (P= 0.0019). Relative risk of AD in carriers of allele 4was five times higher than in carriers of alleles 2and 3(P< 0.000001). Allele 2showed evidence of a protective effect in the early-onset AD group (P= 0.015). These results suggest that APOEallele 4is a universal factor of early-onset, late-onset, and combined AD in ethnic Russians from Russia.  相似文献   

7.
Chromosomal analysis of several cases of asymmetrical male hybrid sterility in Drosophila has implicated the X- or the Y-chromosome and one or more autosomes. Here, I develop a model for the evolution of this phenomenon. An autosomal locus is assumed to affect viability and to interact with a Y-linked or an X-linked locus to determine male fertility. In a new environment, selection for viability favors a new allele at the autosomal locus, but incompatibility of this new allele with the sex-chromosome-linked gene generates male sterility. The incompatibility can be resolved if a new allele at the sex-linked locus invades the population. This results in nonreciprocal male hybrid sterility, the direction of the nonreciprocity being determined by the dominance or recessiveness of the new autosomal gene in its effect on fertility. It is shown that stable polymorphism for the autosomal locus is possible and that, if the equilibrium frequency of the new allele is above a critical value, the population will be constantly at the verge of speciation, “waiting” for the sex-linked mutation to occur. The appearance of this mutation causes a runaway process leading to rapid fixation of the new autosomal and sex-linked alleles. If the equilibrium frequency of the new autosomal allele is less than the critical value, deterministic speciation is impossible, but random drift may increase the frequency above the critical value and predispose the population to the invasion of the new sex-linked allele. Thus, both deterministic and stochastic modes of speciation are possible. Because deterministic speciation requires large selection coefficients, which impose a severe genetic load on the population, and because stochastic speciation requires repeated population bottlenecks, it is concluded that relative to the number of successful speciation events there will be many more events of deme extinction.  相似文献   

8.
Summary A method for the estimation of the yield on energy (Y ATP) and of the efficiency of oxidative phosphorylation, in vivo (P/O ratio) is described, which is based on the measurement of effective gas exchange values ( and ) and of the yield coefficient Y of continuously growing populations of baker's yeast which vary in the degree of fermentation and respiration. For Y ATP a value of 12.0±0.5 and for P/O ratio one of 1.1±0.05 was found and seems to be independent of the type of glucose catabolism (under glucose limitation).The gas exchange of populations of Saccharomyces cerevisiae synchronized at different growth rates was determined. The specific oxygen uptake and carbon dioxide formation rate, Q O 2, and Q CO 2, are shown to depend on the state of the cells in the budding cycle. Increase in gas metabolism and therefore increased energy generation coincides with the initiation of budding. The longer the generation time g the more expressed are these oscillations of energy formation over the budding cycle. The relationship between the course of energy generation and energy storage and the sequence of budding and single cell phase over the division cycle is discussed.  相似文献   

9.
The first standard nomenclature for the chicken (Gallus gallus) major histocompatibility (B) complex published in 1982 describing chicken major histocompatibility complex (MHC) variability is being revised to include subsequent findings. Considerable progress has been made in identifying the genes that define this polymorphic region. Allelic sequences for MHC genes are accumulating at an increasing rate without a standard system of nomenclature in place. The recommendations presented here were derived in workshops held during International Society of Animal Genetics and Avian Immunology Research Group meetings. A nomenclature for B and Y (Rfp-Y) loci and alleles has been developed that can be applied to existing and newly defined haplotypes including recombinants. A list of the current standard B haplotypes is provided with reference stock, allele designations, and GenBank numbers for corresponding MHC class I and class II sequences. An updated list of proposed names for B recombinant haplotypes is included, as well as a list of over 17 Y haplotypes designated to date.  相似文献   

10.
The molar growth yield (Y m) of Bacteroides amylophilus strain WP91 on maltose was 68±2 g/mol when determined from batch cultures at the peaks of maximal growth. Continued incubation led to considerable cell lysis. When calculated from batch cultures in exponential phase (specific growth rate, =0.57 h-1) Y m was 101 g/mol. The maximum value of Y m in maltose-limited chemostat cultures at the maximum dilution rate (D) attainable (D==0.39 h-1) was about 79 g/mol. Ammonia-Fmited chemostat cultures metabolized maltose with a much reduced efficiency and this was associated with a difference in morphology and chemical composition of the cells. The theoretical maximum molar growth yields (Y m max ) were 55 and 114 g/mol for ammonia- and maltose-limited growth respectively. However, if account was taken of extracellular nitrogen-containing material in ammonia-limited cultures, Y m max became 60. The maintenance coefficient (m s), estimated from the lines relating the specific rate of maltose consumption (q m) and D (where m s=q m at D=0), was 7.4±0.6×10-4 mol maltose/g x h for both nutrient limitations. A difference in maintenance energy demand, independent of growth-rate, could not account, therefore, for the observed differences in Y m between ammonia- and maltose-limited growth.  相似文献   

11.
Abstract We propose a simple statistical approach for using Dispersal–Vicariance Analysis (DIVA) software to infer biogeographic histories without fully bifurcating trees. In this approach, ancestral ranges are first optimized for a sample of Bayesian trees. The probability P of an ancestral range r at a node is then calculated as where Y is a node, and F(rY ) is the frequency of range r among all the optimal solutions resulting from DIVA optimization at node Y, t is one of n topologies optimized, and Pt is the probability of topology t. Node Y is a hypothesized ancestor shared by a specific crown lineage and the sister of that lineage “x”, where x may vary due to phylogenetic uncertainty (polytomies and nodes with posterior probability <100%). Using this method, the ancestral distribution at Y can be estimated to provide inference of the geographic origins of the specific crown group of interest. This approach takes into account phylogenetic uncertainty as well as uncertainty from DIVA optimization. It is an extension of the previously described method called Bayes‐DIVA, which pairs Bayesian phylogenetic analysis with biogeographic analysis using DIVA. Further, we show that the probability P of an ancestral range at Y calculated using this method does not equate to pp*F(rY ) on the Bayesian consensus tree when both variables are <100%, where pp is the posterior probability and F(rY ) is the frequency of range r for the node containing the specific crown group. We tested our DIVA‐Bayes approach using Aesculus L., which has major lineages unresolved as a polytomy. We inferred the most probable geographic origins of the five traditional sections of Aesculus and of Aesculus californica Nutt. and examined range subdivisions at parental nodes of these lineages. Additionally, we used the DIVA‐Bayes data from Aesculus to quantify the effects on biogeographic inference of including two wildcard fossil taxa in phylogenetic analysis. Our analysis resolved the geographic ranges of the parental nodes of the lineages of Aesculus with moderate to high probabilities. The probabilities were greater than those estimated using the simple calculation of pp*F(ry) at a statistically significant level for two of the six lineages. We also found that adding fossil wildcard taxa in phylogenetic analysis generally increased P for ancestral ranges including the fossil's distribution area. The ΔP was more dramatic for ranges that include the area of a wildcard fossil with a distribution area underrepresented among extant taxa. This indicates the importance of including fossils in biogeographic analysis. Exmination of range subdivision at the parental nodes revealed potential range evolution (extinction and dispersal events) along the stems of A. californica and sect. Parryana.  相似文献   

12.
To study chemically induced DNA amplifications we used the haploid Saccharomyces cerevisiae strain TR(MS1)-1 carrying an integrated chromosomal copy of the human minisatellite, MS1. Chemicals with different mechanisms of action were tested in this strain: methyl methanesulphonate, ethylene oxide (EO), propylene oxide (PO), camptothecin, 2,3,7,8-tetrachlorodibenso-p-dioxin (TCDD) and reserpine. No increase in frequency of new MS1 length alleles was seen with any of the tested chemicals relative to the spontaneous frequency of approximately 30%. EO and TCDD induced changes in the amplification spectrum, i.e. the frequency distribution of MS1 length alleles longer than the original 1.42 kb allele. PO and camptothecin increased the frequency of plasmid pop-out events. It seems likely that several mechanisms e.g. unequal exchanges, replication slippage and loop formation leading to deletion of a ring of tandem repeats, are involved in the generation of new MS1 length alleles. A loop-forming deletion mechanism is supported by the tendency to multimodality shown in the deamplification (loss of repeat units) spectra, i.e. the frequency distribution of new MS1 length alleles shorter than the original allele. EO and TCDD induced longer MS1 length alleles as compared to the control. The frequent generation of new MS1 length alleles in this haploid yeast strain further demonstrates the instability of such sequences and their possible relevance to genetic toxicology and the mechanisms of induction of cancer as well as other diseases. This study is a first step towards the development of an assay for DNA amplification without the use of a selective agent.  相似文献   

13.
We have studied the genetics of human immune response utilizing IgE-mediated allergic response as a model system. Tests performed on unrelated allergic Caucasian subjects revealed a weak association between responsiveness to ragweed pollen allergen Ra3 and HLA-A2 (p=0.04). Most importantly, we observed a relationship between the frequency of HLA-A2 and total serum IgE level in people allergic to Ra3. This frequency was significantly higher in atypical Ra3-sensitive people with low IgE levels of 16–127 U/ml (where over 90 percent possessed A2) than in those with more typical high IgE levels. We postulate that a majorIr-Ra3+ allele of anIr-Ra3 locus is associated with HLA-A2. Given the natural limiting conditions of exposure to Ra3, we suggest that only thisIr-Ra3+ allele will permit IgE antibody synthesis against Ra3 in allergic subjects with limiting low IgE levels. However, the expression of minorIr-Ra3+ alleles (of the same or differentIr loci) not associated with A2 may be apparent in Ra3 responders having high IgE levels.Preliminary findings were presented at the Federation Meetings, Atlantic City, 1975 and at the Birth Defects Conference, Kansas City, 1975.  相似文献   

14.
Summary Investigation of a variegated condition in the soybean variety Lincoln indicates instability at the Y locus. Leaf sectors of chlorophyll-less yellow tissue occur in distinct heritable patterns; some leaves have small flecks of yellow tissue (late occurring mutations) and others possess large areas or whole leaflets (early occurring mutations).There is evidence that this allele, Y 18 m , mutates to the wild type, Y, which is green and stable and to the recessive, y, which is yellow and lethal in the seedling condition. (With an increase in the amount of yellow tissue there is an increase in the frequency of lethals.) However, changes from one type to the other are observed, and patterns of variegation representing different states of the instability are described. These depend upon the time and frequency of mutation events.Evidence is presented to support the hypothesis that this instability is controlled by a factor that resides at the locus. Such a factor governs the timing of the mutation events and is related to similar elements in maize, which are part of specific mutable systems. Control of variegation of the Y 18 m locus is compared with the models proposed for the cases of instability in maize.
Zusammenfassung Die Untersuchung eines variegaten Zustandes bei der Sojabohnensorte Lincoln führte zum Nachweis einer Instabilität des Y-Locus. Blattsektoren mit chlorophyllfreiem gelbem Gewebe traten in bestimmten erblichen Mustern auf. Einige Blätter wiesen kleine Flecken gelben Gewebes auf (spät eingetretene Mutationen), während andere große Flächen oder vollständig gelbe Blättchen besaßen (früh eingetretene Mutationen).Es gibt Beweise dafür, daß das entsprechende Allel Y 18 m sowohl zum stabilen Wildtypallel Y, mit grünem Phänotyp, als auch zum rezessiv gelben y, das im Sämlingsstadium letal wirkt, mutiert. (Eine Zunahme der Menge gelben Gewebes ist mit einer Zunahme der Letalfrequenz verbunden.) Umwandlungen eines Typs zu einem anderen werden beobachtet und Variegationsmuster beschrieben, die unterschiedliche Stadien der Instabilität verkörpern. Diese hängen von dem Zeitpunkt und der Frequenz der Mutationsereignisse ab.Es werden Beweise vorgelegt, die die Hypothese stützen, daß diese Instabilität durch einen Faktor kontrolliert wird, der sich am Locus befindet. Ein Faktor dieser Art kontrolliert das zeitliche Auftreten der Mutationsereignisse. Er ist mit ähnlichen Elementen des Maises verwandt, die Teile eines spezifisch mutablen Systems sind. Die Kontrolle der Variegation durch den Y 18 m -Locus wird mit den Modellen verglichen, die für die Fälle der Instabilität beim Mais vorgeschlagen wurden.


Joint contribution from the Iowa Agricultural and Home Economics Experiment Station, Ames, Iowa (Projects 1335 und 1179) as Journal Paper No. 5635.

Former Agronomist, Crops Research Division, ARS, USDA, and Professor Iowa State University; now Research Director, Peterson Seed Company.  相似文献   

15.
Summary Serum specimens of two unrelated Japanese males had a new variant of the 2HS-glycoprotein phenotypes. They had unusual bands designated AHS 5. Family studies indicated that the new variant phenotypes were determined by a new allele, AHS * 5, in combination with a common allele AHS * 1 or AHS * 2, and that the new allele had an autosomal codominant inheritance with other AHS alleles. The frequency of the new 2HS-glycoprotein allele, AHS * 5, is 0.0005.We use the designation AHS to denote the 2HS-glycoprotein phenotype and allele in agreement with nomenclature guidelines (Shows et al. 1979)  相似文献   

16.
Summary Bacillus licheniformis S 1684 is able to produce an alkaline serine protease exocellularly. In glucose-limited chemostat cultures the specific rate of protease production was maximal at a -value of 0.22. Above this growth rate protease production was repressed. Dependent on 10–20% of the glucose input was used for exocellular product formation. The degree of reduction of exocellular products was 4.1.Maximum molar growth yields were high and indicate a high efficiency of growth. The values of Y glu max and YO 2 max were 83.8 and 53.3, respectively. When Y glu max was corrected for the amount of glucose used for product formation a value of 100.3 was obtained. These high maximum molar growth yields are most probably caused by a high Y ATP max . Anaerobic batch experiments showed a Y ATP of 14.6.Sometimes the used strain was instable in cell morphology and protease production. Non-protease producing cells most probably develop from producing cells by mutation in the rel-gene. Producing cells most probably are relaxed (rel -) and non-producing cells stringent (rel +).Glossary specific growth rate (h-1) - Y sub growth yield permol substrate (g biomass/mol) - Y max maximum molar growth yield, corrected for maintenance requirements (g biomass/mol) - Y max(corr) Y max corrected for product formation (g biomass/mol) - m sub maintenance requirements (mol/g biomass·h) - m sub(corr) maintenance requirements corrected for product formation (mol/g biomass·h) - Y c fraction of organic substrate converted in biomass - z fraction of organic substrate converted in exocellular products - d fraction of organic substrate converted in CO2 (g mol/g atom C) - Crec% carbon recovery % - average degree of reduction of exocellular products - P/O amount of ATP produced during electron-transport of 2 electrons to oxygen  相似文献   

17.
The apolipoprotein E (ApoE) gene polymorphism resulting from nucleotide substitutions in exon 4 was analyzed in Russian and Tatar patients with myocardial infarction (MI) from Bashkortostan. Alleles 2, 3, and 4 were identified by PCR. The genotype frequency distribution proved to be age-dependent in healthy Russians, genotype 2/3 increasing in frequency in subjects over 45. Russians who suffered MI under 45 had lower frequencies of genotype E3/3 (50.00% vs. 75.47% in controls of the same age, = 0.013, OR = 0.33) and allele 3 (72.12% vs. 85.85%, = 0.020, OR = 0.43) and a higher frequency of allele 4 (22.12% vs. 10.38%, = 0.030, OR = 2.45). Russians who suffered MI complicated by cardiogenic shock (CS) had a significantly higher frequency of genotype 3/4 and lower frequencies of genotype 3/3 and allele 3 as compared with MI patients without CS. In Tatars, genotype 4/4 occurred at a frequency of 14.29% in patients who suffered MI under 45, and was not detected in healthy subjects of the same age ( = 0.024, OR = 17.85). Thus, the ApoE polymorphism was associated with higher risk of MI in Russians and Tatars under 45.  相似文献   

18.
The A mating locus of the woodrotting fungusSchizophyllum commune encodes two multiallelic genes,Y andZ, which regulate the A-pathway of development. TheY alleles contain a homeobox, suggesting that the Y proteins may be DNA-binding regulatory proteins. During mating, development is induced when Y from one mating partner interacts with Z from the other mating partner; self combinations of Y and Z are inactive. Two-hybrid analyses indicate that nonself combinations of Y and Z form heteromultimers and self combinations do not. To understand Y-Z binding and self- nonself recognition further we used mutagenesis and chimeras to identify regions in one allele ofZ(Z5) that are involved in these processes. Here we report the results, which broadly define regions in Z5 that are essential for activity, Y-Z binding and Z5 allelic specificity.The sequence reported in this paper has been deposited in the Genbank database under accession number U22049  相似文献   

19.
Ingrid Hennig 《Chromosoma》1982,86(4):491-508
The Y chromosome of Drosophila carries fertility genes which, in part, develop lampbrush loops during the meiotic prophase. Hybrid males from crosses between D. hydei and D. neohydei are fertile although the morphology of the lampbrush loops differs between both species. With the aid of X ray induced hybrid X – Y translocation chromosomes the question has been studied whether Y chromosomal genes of D. neohydei can substitute deletions in the Y chromosome of D. hydei. Although the induction of translocation chromosomes almost regularly results in an inactivation of the translocated Y fragment within a few generations, one case of successful complementation has been demonstrated. Furthermore, a new lampbrush loop pair has been detected in D. neohydei which is morphologically similar to the nooses of D. hydei. Preliminary evidence for the location of the lampbrush loops on the Y chromosome of D. neohydei is discussed.  相似文献   

20.
Allozyme frequency data from five Greek wild sympatric populations of Drosophila melanogaster and D. simulans along a North-South gradient were analyzed for genotype-environment relationships. The regression coefficient of genetic distance on geographic distance indicates that there is a significant relationship between these parameters for D. melanogaster only. Highly significant differences in specific alleles at certain loci were found between the various local populations studied. The changes in Gpdh F of D. melanogaster and Est-6 F of D. simulans exhibited clinal patterns in allele frequencies. In addition, analysis of D. melanogaster Gpdh Fand Adh F allele frequencies shows that the Greek data do not have regression coefficients (regressing allele frequency on degrees North of latitude) of the same sign as East-and West-Coast United-States populations. These contradictory data are discussed in relation to what is known about the maintenance of the Adh and Gpdh polymorphisms.  相似文献   

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