Major Gene Analysis for Diseases and Disorders of Complex Etiology

2015 ◽  
pp. 141-155
Author(s):  
Christopher I. Amos ◽  
Laurence A. Rubin
Keyword(s):  
Major Gene ◽  
Gene Analysis

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.

Calcium sensing receptor gene: Analysis of polymorphism frequency

1997 ◽  
Vol 57 ◽  
pp. 122-125 ◽  
Author(s):  
L. A. Rubin ◽  
V. Peltekova ◽  
N. Janicic ◽  
C. C. Liew ◽  
D. Hwang ◽  
...  
Keyword(s):  
Receptor Gene ◽  
Gene Analysis ◽  
Calcium Sensing Receptor ◽  
Calcium Sensing ◽  
Calcium Sensing Receptor Gene

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.

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