scholarly journals Lack of Evidence for a Major Gene in the Mendelian Transmission of BMI in Chinese

2004 ◽  
Vol 12 (12) ◽  
pp. 1967-1973 ◽  
Author(s):  
Peng-Yuan Liu ◽  
Yu-Mei Li ◽  
Miao-Xin Li ◽  
Ida Malkin ◽  
Yue-Juan Qin ◽  
...  
Keyword(s):  
Major Gene ◽  
Mendelian Transmission

HLA Genotype of Patients with Severe Haemophilia A due to Intron 22 Inversion with and without Inhibitors of Factor VIII

1997 ◽  
Vol 77 (02) ◽  
pp. 238-242 ◽  
Author(s):  
J Oldenburg ◽  
J K Picard ◽  
R Schwaab ◽  
H H Brackmann ◽  
E G D Tuddenham ◽  
...  
Keyword(s):  
Factor Viii ◽  
Major Gene ◽  
Statistical Significance ◽  
Strong Association ◽  
Molecular Genetic ◽  
Single Mutation ◽  
Severe Haemophilia ◽  
Extended Haplotype ◽  
Intron 22 Inversion ◽  
Hla Genotype

SummaryMolecular genetic studies have shown that development of antibodies to factor VIII (inhibitors) occurs most frequently in patients with severe haemophilia due to major gene lesions including inversions, stop codons and large deletions. Previous studies of HLA type were performed on inhibitor and non-inhibitor patients with diverse uncharacterised mutations which may have confounded detection of significant associations. We therefore selected a group of patients with a single mutation type, the prevalent intron 22 inversion, with or without inhibitors, to determine HLA genotype. Seventy-one such patients, 42 without and 29 with inhibitors (13 high, 9 low and 7 transient responders) were genotyped for MHC Class I HLA-A, -B, -C and Class II HLA-DQA, -DQB and -DRB loci. No strong correlation of any HLA-allele to inhibitor or non-inhibitor status was found. However, alleles of the haplotype HLA-A3, HLA-B7, HLA-C7, HLA-DQA0102, HLA-DQB0602, HLA-DR15 occurred more often in inhibitor patients. Since the alleles of this extended haplotype are common in the North European population only a very strong association would achieve statistical significance. Further studies of groups of patients similar to those studied here will be needed to confirm or exclude this association.

Genetic Analysis of Silique Length Using Mixture Model of Major Gene Plus Polygene inBrassica napusL.

2014 ◽  
Vol 40 (8) ◽  
pp. 1493
Author(s):  
Qing-Yuan ZHOU ◽  
Cui CUI ◽  
Tao YIN ◽  
Dong-Liang CHEN ◽  
Zheng-Sheng ZHANG ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Mixture Model ◽  
Major Gene ◽  
Silique Length

Major Gene Plus Polygene Inheritance of Vitamin C Content in Non-heading Chinese Cabbage

2014 ◽  
Vol 40 (10) ◽  
pp. 1733 ◽  
Author(s):  
Ting-Ting LIN ◽  
Jian-Jun WANG ◽  
Li WANG ◽  
Xuan CHEN ◽  
Xi-Lin HOU ◽  
...  
Keyword(s):  
Vitamin C ◽  
Chinese Cabbage ◽  
Major Gene ◽  
Heading Chinese Cabbage

scholarly journals Maximum Likelihood Analysis of Rare Binary Traits Under Different Modes of Inheritance

Genetics ◽  
1996 ◽  
Vol 143 (4) ◽  
pp. 1819-1829 ◽  
Author(s):  
G Thaller ◽  
L Dempfle ◽  
I Hoeschele
Keyword(s):  
Maximum Likelihood ◽  
Mixed Model ◽  
Major Gene ◽  
Likelihood Ratio Statistic ◽  
Information Criterion ◽  
Genetic Models ◽  
Parameter Estimates ◽  
Gene Effects ◽  
Binary Traits ◽  
Deterministic Algorithms

Abstract Maximum likelihood methodology was applied to determine the mode of inheritance of rare binary traits with data structures typical for swine populations. The genetic models considered included a monogenic, a digenic, a polygenic, and three mixed polygenic and major gene models. The main emphasis was on the detection of major genes acting on a polygenic background. Deterministic algorithms were employed to integrate and maximize likelihoods. A simulation study was conducted to evaluate model selection and parameter estimation. Three designs were simulated that differed in the number of sires/number of dams within sires (10/10, 30/30, 100/30). Major gene effects of at least one SD of the liability were detected with satisfactory power under the mixed model of inheritance, except for the smallest design. Parameter estimates were empirically unbiased with acceptable standard errors, except for the smallest design, and allowed to distinguish clearly between the genetic models. Distributions of the likelihood ratio statistic were evaluated empirically, because asymptotic theory did not hold. For each simulation model, the Average Information Criterion was computed for all models of analysis. The model with the smallest value was chosen as the best model and was equal to the true model in almost every case studied.

scholarly journals NLRP7 Promotes Choriocarcinoma Growth and Progression through the Establishment of an Immunosuppressive Microenvironment

Cancers ◽  
2021 ◽  
Vol 13 (12) ◽  
pp. 2999
Author(s):  
Deborah Reynaud ◽  
Roland Abi Nahed ◽  
Nicolas Lemaitre ◽  
Pierre-Adrien Bolze ◽  
Wael Traboulsi ◽  
...  
Keyword(s):  
Immune Response ◽  
Tumor Cells ◽  
Major Gene ◽  
Critical Role ◽  
Orthotopic Model ◽  
Independent Manner ◽  
Maternal Immune Response ◽  
The Impact

The inflammatory gene NLRP7 is the major gene responsible for recurrent complete hydatidiform moles (CHM), an abnormal pregnancy that can develop into gestational choriocarcinoma (CC). However, the role of NLRP7 in the development and immune tolerance of CC has not been investigated. Three approaches were employed to define the role of NLRP7 in CC development: (i) a clinical study that analyzed human placenta and sera collected from women with normal pregnancies, CHM or CC; (ii) an in vitro study that investigated the impact of NLRP7 knockdown on tumor growth and organization; and (iii) an in vivo study that used two CC mouse models, including an orthotopic model. NLRP7 and circulating inflammatory cytokines were upregulated in tumor cells and in CHM and CC. In tumor cells, NLRP7 functions in an inflammasome-independent manner and promoted their proliferation and 3D organization. Gravid mice placentas injected with CC cells invalidated for NLRP7, exhibited higher maternal immune response, developed smaller tumors, and displayed less metastases. Our data characterized the critical role of NLRP7 in CC and provided evidence of its contribution to the development of an immunosuppressive maternal microenvironment that not only downregulates the maternal immune response but also fosters the growth and progression of CC.

scholarly journals Polymorphism Detection of GDF9 Gene and Its Association with Litter Size in Luzhong Mutton Sheep (Ovis aries)

Animals ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 571
Author(s):  
Fengyan Wang ◽  
Mingxing Chu ◽  
Linxiang Pan ◽  
Xiangyu Wang ◽  
Xiaoyun He ◽  
...  
Keyword(s):  
Litter Size ◽  
Tertiary Structure ◽  
Novel Mutation ◽  
Major Gene ◽  
Ovis Aries ◽  
Nucleotide Polymorphisms ◽  
Economic Traits ◽  
Coding Region ◽  
Association Analyses ◽  
Gdf9 Gene

Litter size is one of the most important economic traits in sheep. GDF9 and BMPR1B are major genes affecting the litter size of sheep. In this study, the whole coding region of GDF9 was sequenced and all the SNPs (single nucleotide polymorphisms) were determined in Luzhong mutton ewes. The FecB mutation was genotyped using the Sequenom MassARRAY®SNP assay technology. Then, the association analyses between polymorphic loci of GDF9 gene, FecB, and litter size were performed using a general linear model procedure. The results showed that eight SNPs were detected in GDF9 of Luzhong mutton sheep, including one novel mutation (g.41769606 T > G). The g.41768501A > G, g.41768485 G > A in GDF9 and FecB were significantly associated with litter size in Luzhong mutton ewes. The g.41768485 G > A is a missense mutation in the mature GDF9 protein region and is predicted to affect the tertiary structure of the protein. The results preliminarily demonstrated that GDF9 was a major gene affecting the fecundity of Luzhong mutton sheep and the two loci g.41768501A > G and g.41768485 G > A may be potential genetic markers for improving litter size.

scholarly journals Association between the Polymorphisms of fads2a and fads2b and Poly-Unsaturated Fatty Acids in Common Carp (Cyprinus carpio)

Animals ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 1780
Author(s):  
Yan Zhang ◽  
Xiao-Qing Sun ◽  
Yu-Qing Ye ◽  
Qi Wang ◽  
Qing-Song Li ◽  
...  
Keyword(s):  
Common Carp ◽  
Unsaturated Fatty Acids ◽  
Major Gene ◽  
Fatty Acid Desaturase ◽  
Mixed Linear Model ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Food Fish ◽  
Rate Limiting ◽  
Fatty Acid Desaturase 2

Fatty acid desaturase 2 (fads2) is one of the rate-limiting enzymes in PUFAs biosynthesis. Compared with the diploid fish encoding one fads2, the allo-tetraploid common carp, one most important food fish, encodes two fads2 genes (fads2a and fads2b). The associations between the contents of different PUFAs and the polymorphisms of fads2a and fads2b have not been studied. The contents of 12 PUFAs in common carp individuals were measured, and the polymorphisms in the coding sequences of fads2a and fads2b were screened. We identified five coding single nucleotide polymorphisms (cSNPs) in fads2a and eleven cSNPs in fads2b. Using the mixed linear model and analysis of variance, a synonymous fads2a cSNP was significantly associated with the content of C20:3n-6. One non-synonymous fads2b cSNP (fads2b.751) and one synonymous fads2b cSNP (fads2b.1197) were associated with the contents of seven PUFAs and the contents of six PUFAs, respectively. The heterozygous genotypes in both loci were associated with higher contents than the homozygous genotypes. The fads2b.751 genotype explained more phenotype variation than the fads2b.1197 genotype. These two SNPs were distributed in one haplotype block and associated with the contents of five common PUFAs. These results suggested that fads2b might be the major gene responding to common carp PUFA contents and that fads.751 might be the main effect SNP. These cSNPs would be potential markers for future selection to improve the PUFA contents in common carp.

scholarly journals Shoot Regeneration Is Not a Single Cell Event

Plants ◽  
2020 ◽  
Vol 10 (1) ◽  
pp. 58
Author(s):  
Patharajan Subban ◽  
Yaarit Kutsher ◽  
Dalia Evenor ◽  
Eduard Belausov ◽  
Hanita Zemach ◽  
...  
Keyword(s):  
Gene Family ◽  
Single Cell ◽  
Shoot Regeneration ◽  
Major Gene ◽  
Molecular Genetic ◽  
Plant Biotechnology ◽  
Gene Families ◽  
Regeneration Medium ◽  
Developmental Processes ◽  
Leaf Segments

Shoot regeneration is a key tool of modern plant biotechnology. While many researchers use this process empirically, very little is known about the early molecular genetic factors and signaling events that lead to shoot regeneration. Using tobacco as a model system, we found that the inductive events required for shoot regeneration occur in the first 4–5 days following incubation on regeneration medium. Leaf segments placed on regeneration medium did not produce shoots if removed from the medium before four days indicating this time frame is crucial for the induction of shoot regeneration. Leaf segments placed on regeneration medium for longer than five days maintain the capacity to produce shoots when removed from the regeneration medium. Analysis of gene expression during the early days of incubation on regeneration medium revealed many changes occurring with no single expression pattern evident among major gene families previously implicated in developmental processes. For example, expression of Knotted gene family members increased during the induction period, whereas transcription factors from the Wuschel gene family were unaltered during shoot induction. Expression levels of genes involved in cell cycle regulation increased steadily on regeneration medium while expression of NAC genes varied. No obvious possible candidate genes or developmental processes could be identified as a target for the early events (first few days) in the induction of shoot regeneration. On the other hand, observations during the early stages of regeneration pointed out that regeneration does not occur from a single cell but a group of cells. We observed that while cell division starts just as leaf segments are placed on regeneration medium, only a group of cells could become shoot primordia. Still, these primordia are not identifiable during the first days.

scholarly journals Identification and Physical Localization of Useful Genes and Markers to a Major Gene-Rich Region on Wheat Group1SChromosomes

Genetics ◽  
2001 ◽  
Vol 157 (4) ◽  
pp. 1735-1747 ◽  
Author(s):  
Devinder Sandhu ◽  
Julie A Champoux ◽  
Svetlana N Bondareva ◽  
Kulvinder S Gill
Keyword(s):  
Dna Analysis ◽  
Major Gene ◽  
Rflp Markers ◽  
Rich Region ◽  
Wheat Group ◽  
Marker Loci ◽  
Group 1 Chromosomes ◽  
Gene Rich Region ◽  
Homeologous Group ◽  
Group 1

AbstractThe short arm of Triticeae homeologous group 1 chromosomes is known to contain many agronomically important genes. The objectives of this study were to physically localize gene-containing regions of the group 1 short arm, enrich these regions with markers, and study the distribution of genes and recombination. We focused on the major gene-rich region (“1S0.8 region”) and identified 75 useful genes along with 93 RFLP markers by comparing 35 different maps of Poaceae species. The RFLP markers were tested by gel blot DNA analysis of wheat group 1 nullisomic-tetrasomic lines, ditelosomic lines, and four single-break deletion lines for chromosome arm 1BS. Seventy-three of the 93 markers mapped to group 1 and detected 91 loci on chromosome 1B. Fifty-one of these markers mapped to two major gene-rich regions physically encompassing 14% of the short arm. Forty-one marker loci mapped to the 1S0.8 region and 10 to 1S0.5 region. Two cDNA markers mapped in the centromeric region and the remaining 24 loci were on the long arm. About 82% of short arm recombination was observed in the 1S0.8 region and 17% in the 1S0.5 region. Less than 1% recombination was observed for the remaining 85% of the physical arm length.

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