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mode of inheritance of primary metabolic traits in tomato

PLANT CELL 2008年第3期20卷 509-523页

作者： Schauer, Nicolas Semel, Yaniv Balbo, Ilse Steinfath, Matthias Repsilber, Dirk Selbig, Joachim Pleban, Tzili Zamir, Dani Fernie, Alisdair R. Max Planck Inst Mol Plant Physiol D-14476 Potsdam Germany Hebrew Univ Jerusalem Inst Plant Sci & Genet IL-76100 Rehovot Israel Hebrew Univ Jerusalem Fac Agr Otto Warburg Ctr Biotechnol IL-76100 Rehovot Israel Univ Potsdam Inst Biochem & Biol Dept Bioinformat D-14476 Potsdam Germany Res Inst Biol Farm Anim D-18196 Dummerstorf Germany

To evaluate components of fruit metabolic composition, we have previously metabolically phenotyped tomato (Solanum lycopersicum) introgression lines containing segmental substitutions of wild species chromosome in the genetic background of a cultivated variety. Here, we studied the hereditability of the fruit metabolome by analyzing an additional year's harvest and evaluating the metabolite profiles of lines heterozygous for the introgression (ILHs), allowing the evaluation of putative quantitative trait locus (QTL) mode of inheritance. These studies revealed that most of the metabolic QTL (174 of 332) were dominantly inherited, with relatively high proportions of additively (61 of 332) or recessively (80 of 332) inherited QTL and a negligible number displaying the characteristics of overdominant inheritance. Comparison of the mode of inheritance of QTL revealed that several metabolite pairs displayed a similar mode of inheritance of QTL at the same chromosomal loci. Evaluation of the association between morphological and metabolic traits in the ILHs revealed that this correlation was far less prominent, due to a reduced variance in the harvest index within this population. These data are discussed in the context of genomics-assisted breeding for crop improvement, with particular focus on the exploitation of wide biodiversity.

关键词： .wild species allowing mode of inheritance displayed metabolically Evaluating Solanum displaying overdominant Lycopersicum metabolic traits Pleban ILHs

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mode of inheritance IN FAMILIES OF PATIENTS WITH LITHIUM-RESPONSIVE AFFECTIVE-DISORDERS

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ACTA PSYCHIATRICA SCANDINAVICA 1994年第4期90卷 304-310页

作者： ALDA, M GROF, P GROF, E ZVOLSKY, P WALSH, M CHARLES UNIV DEPT PSYCHIATPRAGUECZECH REPUBLIC HAMILTON PSYCHIAT HOSP HAMILTONONCANADA

A better understanding of the role of genetic factors in affective disorders is likely to result from investigating more homogeneous populations. To achieve this goal, we have systematically studied patients who are excellent responders to long-term lithium treatment and their relatives. In the families of 71 such probands, we have analyzed the mode of inheritance by comparing the observed morbidity risks with the risks expected under different genetic models. The results demonstrate major-gene effects in the transmission of primary affective disorders;the polygenic model with sex-specific thresholds could be rejected. Discrimination between the autosomal and X-chromosome models was not possible, but the autosomal recessive model predicts more realistic, gender-specific frequencies of affective disorders in the general population. These results suggest that autosomal recessive inheritance deserves serious consideration in molecular genetic investigations.

关键词： AFFECTIVE DISORDER GENETICS mode of inheritance LITHIUM LONG-TERM TREATMENT

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mode of inheritance AND GENETIC DIVERSITY OF BAMMV RESISTANCE OF EXOTIC BARLEY GERMPLASMS CARRYING GENES DIFFERENT FROM YM4

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THEORETICAL AND APPLIED GENETICS 1993年第2-3期86卷 229-233页

作者： ORDON, F FRIEDT, W Institute of Agronomy and Plant Breeding I Justus-Liebig-University Gießen Germany

In order to obtain information about the mode of inheritance of BaMMV resistance in germplasms carrying genes different from the ''German'' gene 'ym4', F1-tests for resistance as well as F2-segregation analyses of crosses to susceptible German cultivars were carried out by mechanical inoculation in the greenhouse. In the F1 the majority of plants of each combination tested reacted susceptible to BaMMV while in the F2 a good fit to a segregation of 1r:3s or 7r:9s was. observed. Therefore, the results of these tests revealed that the BaMMV resistance of all the varieties tested is inherited either by a single or by two recessive genes. By testing intercrosses of these resistant varieties segregation of BaMMV-susceptile plants was observed in the majority of combinations, revealing a high degree of genetic diversity in the barley gene pool.

关键词： HORDEUM-VULGARE L BARLEY MILD MOSAIC VIRUS (BAMMV) RESISTANCE mode of inheritance GENETIC DIVERSITY

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INVESTIGATING THE HLA COMPONENT IN RHEUMATOID-ARTHRITIS - AN ADDITIVE (DOMINANT) mode of inheritance IS REJECTED, A RECESSIVE mode IS PREFERRED

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GENETIC EPIDEMIOLOGY 1991年第3期8卷 153-175页

作者： RIGBY, AS SILMAN, AJ VOELM, L GREGORY, JC OLLIER, WER KHAN, MA NEPOM, GT THOMSON, G VIRGINIA MASON MED CTR SEATTLEWA 98101 UNIV CALIF BERKELEY DEPT INTEGRAT BIOLBERKELEYCA 94720 CASE WESTERN RESERVE UNIV CLEVELAND METROPOLITAN GEN HOSPCLEVELANDOH 44109

We examined the mode of inheritance of rheumatoid arthritis (RA) and estimated the genetic contribution of the HLA-linked locus to the development of RA using data from 111 multiplex families (54 London, 57 Cleveland), and 43 randomly ascertained patients (Seattle). HLA-DR4 was present in 78 multiplex probands (70%);a further 16 probands who were negative for DR4 were positive for DR1. Both DR4 and DR1 were significantly in excess when compared to control population frequencies (P < 0.001);an additional finding was an excess of DR7, although the numbers of probands with DR7 were small. Despite the well-established HLA association with RA, neither recessive nor additive (dominant) modes of inheritance, nor any intermediate models have been ruled out using affected sib-pair and antigen geno-type frequency among patients (AGFAP) methods. However, in our study the AGFAP data for HLA-DR4 and DRI were close to recessive expectations (P = ns) while an additive (dominant) mode of inheritance was rejected (P < 0.001). The same results were obtained by an independent method which considered HLA-DR transmission from affected parents to their affected children. The affected sib-pair haplotype sharing method showed deviation from random expectations but did not allow discrimination between recessive and additive (dominant) modes. The effect of the HLA-linked locus on familiarity accounted for only a 1.61-fold increased risk to sibs over the population prevalence, compared to an observed value of 3.90. This indicated that there could be at least one other non-HLA locus predisposing to RA with a weight that is slightly greater than that of HLA.

关键词： RHEUMATOID ARTHRITIS GENETIC HETEROGENEITY EPITOPE AFFECTED PARENTS SIB-PAIRS mode of inheritance EPIDEMIOLOGY AGFAP METHOD HLA ASSOCIATION

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The role of fatal family history and mode of inheritance in prostate cancer for long-term outcomes following radical prostatectomy

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WORLD JOURNAL OF UROLOGY 2020年第12期38卷 3091-3099页

作者： Meissner, Valentin H. Strueh, Jamila G. H. Kron, Martina Liesenfeld, Lea A. Kranz, Stephanie Gschwend, Jurgen E. Herkommer, Kathleen Tech Univ Munich Sch Med Dept Urol Klinikum Rechts Isar Munich Germany Univ Ulm Inst Epidemiol & Med Biometr Ulm Germany

Purpose To determine whether fatal family history (FFH) or mode of inheritance in prostate cancer (PCa) has an impact on long-term outcomes following radical prostatectomy (RP). Methods 1076 PCa patients after RP with at least one deceased first-degree relative with PCa were included and stratified by FFH (four subgroups: fraternal, paternal, multiple, and none) and by mode of inheritance (two subgroups: male to male, non-male to male). We compared clinicopathological characteristics between subgroups with Fisher's exact or Chi-square tests. Biochemical recurrence-free survival (BRFS) and cancer-specific survival (CSS) were analyzed using the method of Kaplan and Meier. Simple and multiple Cox regression with backward elimination were performed to select prognostic factors for BRFS and CSS. Results Median age at surgery was 63.3 (range 35.9-79.4) years. The overall Kaplan-Meier estimated BRFS rate at 10 and 15 years was 65.6% and 57.0%, respectively. The overall Kaplan-Meier estimated CSS rate at 10 and 15 years was 98.1% and 95.7%, respectively. Neither FFH nor mode of inheritance were factors associated with worse BRFS. However, in multiple Cox regression, paternal FFH was an important prognostic factor for a better CSS (HR 0.19, CI 0.05-0.71,p = 0.014) compared to non-FFH. Conclusion FFH and mode of inheritance do not seem to be prognostic factors of worse long-term outcomes following RP. Rather, a paternal FFH was associated with a better CSS;however, the reasons remain unclear. Nevertheless, patients after RP and FFH could be reassured that their own PCa diagnosis is not associated with a worse long-term outcome.

关键词： Biochemical recurrence-free survival Cancer-specific survival Fatal family history mode of inheritance Prostatic neoplasms Radical prostatectomy

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The power of generalized odds ratio in assessing association in genetic studies with known mode of inheritance

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JOURNAL OF APPLIED STATISTICS 2012年第12期39卷 2569-2581页

作者： Zintzaras, Elias Univ Thessaly Sch Med Dept Biomath Larisa Greece Tufts Univ Sch Med Tufts Med Ctr Inst Clin Res & Hlth Policy Studies Boston MA 02111 USA

The generalized odds ratio (ORG) is a novel model-free approach to test the association in genetic studies by estimating the overall risk effect based on the complete genotype distribution. However, the power of ORG has not been explored and, particularly, in a setting where the mode of inheritance is known. A population genetics model was simulated in order to define the mode of inheritance of a pertinent gene-disease association in advance. Then, the power of ORG was explored based on this model and compared with the chi-square test for trend. The model considered bi- and tri-allelic gene-disease associations, and deviations from the Hardy-Weinberg equilibrium (HWE). The simulations showed that bi- and tri-allelic variants have the same pattern of power results. The power of ORG increases with increase in the frequency of mutant allele and the coefficient of selection and, of course, the degree of dominance of the mutant allele. The deviation from HWE has a considerable impact on power only for small values of the above parameters. The ORG showed superiority in power compared with the chi-square test for trend when there is deviation from HWE;otherwise, the pattern of results was similar in both the approaches.

关键词： generalized odds ratio power degree of dominance genetic association study mode of inheritance

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Carbaryl Resistance in a Laboratory-Selected Strain of Aphytis melinus DeBach (Hymenoptera: Aphelinidae): mode of inheritance and Implications for Implementation in Citrus IPM

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BIOLOGICAL CONTROL 1992年第3期2卷 211-217页

作者： Spollen, Kevin M. Hoy, Marjorie A. Univ Calif Berkeley Dept Entomol Berkeley CA 94720 USA

A carbaryl-resistant (R) strain of the California red scale parasite Aphytis melinus DeBach reached a plateau in its selection response after 13 laboratory selections with carbaryl (Sevin 80S). mode of inheritance tests were conducted using R and S (La Couague) colonies. The degree of dominance for the reciprocal F(1) females (RS, SR) was 0.153 and 0.254, respectively, indicating that inheritance was not fully dominant or recessive. A monofactorial mode of inheritance was rejected by chi(2) analysis of the concentration/mortality curves for the F(2) males. Although there was a plateau in the mortality of the male progeny of virgin RS and SR females at 50%, 7 of 17 observed points deviated significantly from the expected curve. Practical aspects of mass rearing and releasing the R strain in California citrus orchards are discussed. (C) 1992 Academic Press, Inc.

关键词： Aphytis mode of inheritance carbaryl resistance Citrus IPM

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A novel system for assigning the mode of inheritance in mitochondrial disorders using cybrids and rhodamine 6G

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HUMAN MOLECULAR GENETICS 1999年第9期8卷 1691-1697页

作者： Williams, AJ Murrell, M Brammah, S Minchenko, J Christodoulou, J Royal Alexandra Hosp Children Western Sydney Genet Program Westmead NSW 2145 Australia Royal Alexandra Hosp Children Dept Clin Biochem Westmead NSW 2145 Australia Univ Sydney Dept Paediat & Child Hlth Sydney NSW 2006 Australia Cent Sydney Area Hlth Serv Electron Microscopy Unit Concord Australia

When normal human cultured skin fibroblasts were treated with the fluorescent dye rhodamine 60 (R6G), there was a drastic reduction in numbers of intact mitochondria and electron transport chain enzyme activities, despite the fact that mitochondrial DNA (mtDNA) was still present in treated cells, We used this observation to develop a novel system for generating cybrids, When cultured skin fibroblast cells from a patient with the mitochondrial encephalopathy and ragged-red fibers (MERRF) syndrome harboring the A8344G mtDNA mutation and which showed a severe reduction in cytochrome c oxidase activity were treated with R6G and fused to enucleated HeLaCOT cells, the resulting cybrid clones showed recovery of cytochrome c oxidase activity, and were shown to have mtDNA derived solely from the HeLaCOT cell line. R6G has significant advantages over ethidium bromide in removing the mitochondrial elements from cultured cells, and the results reported here demonstrate that this strategy can be used to determine the origin of the genetic defect in patients with electron transport chain abnormalities.

关键词： .enzyme activities mode of inheritance rhodamine cybrids skin fibroblasts Mitochondrial Disorders Royal Alexandra Hospital HeLaCOT

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Linkage analysis in the presence of errors IV:: Joint pseudomarker analysis of linkage and/or linkage disequilibrium on a mixture of pedigrees and singletons when the mode of inheritance cannot be accurately specified

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AMERICAN JOURNAL OF HUMAN GENETICS 2000年第4期66卷 1310-1327页

作者： Göring, HHH Terwilliger, JD Columbia Univ Dept Psychiat New York NY 10032 USA Columbia Univ Dept Genet New York NY 10032 USA Columbia Univ Columbia Genome Ctr New York NY 10032 USA New York State Psychiat Inst New York NY 10032 USA

There is a lot of confusion in the literature about the "differences" between "model-based" and "model-free" methods and about which approach is better suited for detection of the genes predisposing to complex multifactorial phenotypes. By starting from first principles, we demonstrate that the differences between the two approaches have more to do with study design than statistical analysis. When simple data structures are repeatedly ascertained, no assumptions about the genotype-phenotype relationship need to be made for the analysis to be powerful, since simple data structures admit only a small number of df. When more complicated and/or heterogeneous data structures are ascertained, however, the number of df in the underlying probability model is too large to have a powerful, truly "model-free" test. So-called "model-free" methods typically simplify the underlying probability model by implicitly assuming that, in some sense, all meioses connecting two affected individuals are informative for linkage with identical probability and that the affected individuals in a pedigree share as many disease-predisposing alleles as possible. By contrast, "model-based" methods add structure to the underlying parameter space by making assumptions about the genotype-phenotype relationship, making it possible to probabilistically assign disease-locus genotypes to all individuals in the data set on the basis of the observed phenotypes. In this study, we demonstrate the equivalence of these two approaches in a variety of situations and exploit this equivalence to develop more powerful and efficient likelihood-based analogues of "model-free" tests of linkage and/or linkage disequilibrium. Through the use of a "pseudomarker" locus to structure the space of observations, sib-pairs, triads, and singletons can be analyzed jointly, which will lead to tests that are more well-behaved, efficient, and powerful than traditional "model-free" tests such as the affected sib-pair, transmission/d

关键词： .assumptions and/or powerful mode of inheritance pedigrees ascertained cannot mixture model-based singletons analysis of linkage Presence of Errors model-free Pseudomarker data structures

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Complex segregation analysis of nasopharyngeal carcinoma in Guangdong, China: evidence for a multifactorial mode of inheritance (complex segregation analysis of NPC in China)

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EUROPEAN JOURNAL OF HUMAN GENETICS 2005年第2期13卷 248-252页

作者： Jia, WH Collins, A Zeng, YX Feng, BJ Yu, XJ Huang, LX Feng, QS Huang, P Yao, MH Shugart, YY Sun Yat Sen Univ Ctr Canc Dept Expt Res Key Lab Minist Educ Guangzhou 510060 Peoples R China Univ Southampton Southampton Gen Hosp Southampton SO9 5NH Hants England Sun Yat Sen Univ Ctr Canc Dept Informat Key Lab Minist Educ Guangzhou 510060 Peoples R China Johns Hopkins Univ Bloomberg Sch Publ Hlth Dept Epidemiol Baltimore MD 21218 USA

The striking geographical and ethnic distribution of nasopharyngeal carcinoma (NPC) suggests the involvement of genetic and environmental factors in NPC development. The purpose of this study is to investigate the fit of single gene, polygenic and multifactorial models to the observed pattern of transmission of NPC in a hospital-based family history study conducted by the Cancer Center of Sun Yat-Sen University (CCSYU) in Guangzhou, China. Complex segregation analysis of a total of 1903 Cantonese pedigrees ascertained at CCSYU was conducted using a unified mixed model after the pedigrees were partitioned into 3737 nuclear families. The mixed model assumes that a phenotype is influenced by the additive and independent effect of a major gene, together with multifactorial components ( genetic and environmental) and a random environmental effect. The current results do not provide evidence for a major gene and the observed data are best explained by a multifactorial mode of inheritance for NPC.

关键词： nasopharyngeal carcinoma (NPC) complex segregation analysis mode of inheritance multifactorial model

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