Molecular Genetic Models Related to Schizophrenia and Psychotic Illness: Heuristics and Challenges

2011 ◽  
pp. 87-119 ◽  
Author(s):  
Colm M. P. O’Tuathaigh ◽  
Lieve Desbonnet ◽  
Paula M. Moran ◽  
Brian P. Kirby ◽  
John L. Waddington
Keyword(s):  
Molecular Genetic ◽  
Genetic Models ◽  
Psychotic Illness

scholarly journals Inflorescence Identity Gene Alleles Are Poor Predictors of Inflorescence Type in Broccoli and Cauliflower

2006 ◽  
Vol 131 (5) ◽  
pp. 667-673 ◽  
Author(s):  
Joanne A. Labate ◽  
Larry D. Robertson ◽  
Angela M. Baldo ◽  
Thomas Björkman
Keyword(s):  
Genetic Resources ◽  
Goodness Of Fit ◽  
Agricultural Research ◽  
Plant Genetic Resources ◽  
Molecular Genetic ◽  
Null Model ◽  
Genetic Models ◽  
Variable Model ◽  
Mutant Genotype ◽  
Genetic Mechanisms

Broccoli (Brassica oleracea L. var. italica Plenck) and cauliflower (B. oleracea var. botrytis DC) are closely related botanical varieties. The underlying genetic bases of their phenotypic differences from each other are not well understood. A molecular genetic marker enabling B. oleracea germplasm curators and breeders to predict phenotype from seeds or seedlings would be a valuable tool. Mutant alleles at flower developmental pathway loci BoAP1-a, Bo-CAL-a, and glucosinolate biosynthetic pathway locus BoGSL-ELONG have been reported to be associated with a cauliflower phenotype. We surveyed mutant alleles at these three loci in a genetically diverse sample of broccoli and cauliflower accessions from the U.S. Department of Agriculture, Agricultural Research Service (USDA-ARS) Plant Genetic Resources Unit (PGRU) and the University of Warwick, Genetic Resources Unit of Warwick HRI (HRI). Phenotypic and genotypic data were collected for multiple plants per accession during two field seasons. Simple genetic models assuming dominance or codominance of alleles were analyzed. Goodness-of-fit tests rejected the null model that the mutant genotype was associated with a cauliflower phenotype. A correlation analysis showed that BoAP1-a and BoCAL-a alleles or loci were significantly correlated with phenotype but the fraction of variation explained was low, 4.4% to 6.3%. Adding BoGSL-ELONG to the analysis improved predictive power using the linear regression procedure, Maximum R-square Improvement (max R2). In the best three-variable model, only 24.8% of observed phenotypic variation was explained. Because tested genetic models did not hold robustly for the surveyed accessions, it is likely that there are multiple genetic mechanisms that influence whether the phenotype is broccoli or cauliflower. Our results in commercial cultivars indicate that other genetic mechanisms are more important in determining the horticultural type than are BoAP1-a and BoCAL-a.

Phenotypic definitions of psychotic illness for molecular genetic research

1994 ◽  
Vol 54 (4) ◽  
pp. 365-371 ◽  
Author(s):  
Anne E. Farmer ◽  
Julie Williams ◽  
Irene Jones
Keyword(s):  
Molecular Genetic ◽  
Genetic Research ◽  
Psychotic Illness

scholarly journals MOLECULAR-GENETIC MODELS FOR PROGNOSIS OF DEVELOPMENT OF TUMORS OF REPRODUCTIVE SYSTEM IN WOMEN WITH FAMILY HISTORY OF CANCER

2018 ◽  
Vol 40 (1) ◽  
pp. 59-67
Author(s):  
O V Paliychuk ◽  
L Z Polishchuk ◽  
Z I Rossokha ◽  
V F Chekhun
Keyword(s):  
Family History ◽  
Malignant Tumors ◽  
Molecular Genetic ◽  
Genetic Models ◽  
Benign Tumors ◽  
Family History Of Cancer ◽  
Benign Pathology ◽  
History Of ◽  
History Of Cancer ◽  
Cyp 2D6

Aim: To develop a prognostic molecular genetic model for assessing the risk of development of benign and malignant tumors of female reproductive organs (FRO) in patients from cancer-affected families. Patients and Methods: The work presents the data on a comprehensive clinical examination of 210 women (90 patients with FRO cancer with aggregation of tumor pathology in families, 65 patients with benign pathology of FRO from cancer-affected families, 55 women — control group of healthy women without family history of cancer). Clinical genealogical analysis, morphological examination of tumors and molecular genetic studies of genomic DNA from peripheral blood and tumors were carried out. Results: It was established that in the families of patients with benign and malignant pathology of FRO, malignant tumors associated with Lynch II syndrome are observed. Based on the analysis of detected ESR-1, CYP 2D6*4 and mutations in BRCA1/2 genes in cancer patients and in patients with benign pathology, molecular genetic models have been developed to assess the individual risk of development of benign and malignant tumors of FRO. It has been established that these molecular genetic models and combinations of gene mutations and gene polymorphisms (SNP) by the intergene interaction that was analyzed, were found to be reliable in assessing the risk of benign and malignant pathology of the mammary gland and ovary. Conclusions: The model, which included the polymorphic variants of the T397C(ESR1)/CYP 2D6*4 genes was of the best predictive accuracy for the evaluation of the risk of benign tumors of the FRO (71.68%) and the highest reliability (p < 0.001). At the same time, all identified models of intergene interaction in the development of malignant pathology of FRO were reliable, prognostically significant with high reproduction and almost identical accuracy (65.00–68.23%). The obtained results indicate a high informativeness of such molecular genetic indices as the polymorphism of ESR1 and CYP 2D6*4 genes and mutations in BRCA1/2 genes to assess the risk of benign or malignant tumors of FRO in families of patients with family history of cancer.

Molecular genetic markers for thyroid FNAB

2015 ◽  
Vol 54 (03) ◽  
pp. 94-100 ◽  
Author(s):  
P. B. Musholt ◽  
T. J. Musholt
Keyword(s):  
Genetic Markers ◽  
Thyroid Nodules ◽  
Molecular Genetic ◽  
Genetic Alterations ◽  
Diagnostic Tools ◽  
Ultrasound Screening ◽  
Thyroid Malignancy ◽  
Thyroid Carcinomas ◽  
Molecular Genetic Markers ◽  
The Impact

SummaryAim: Thyroid nodules > 1 cm are observed in about 12% of unselected adult employees aged 18–65 years screened by ultrasound scan (40). While intensive ultrasound screening leads to early detection of thyroid diseases, the determination of benign or malignant behaviour remains uncertain and may trigger anxieties in many patients and their physicians. A considerable number of thyroid resections are consecutively performed due to suspicion of malignancy in the detected nodes. Fine needle aspiration biopsy (FNAB) has been recommended for the assessment of thyroid nodules to facilitate detection of thyroid carcinomas but also to rule out malignancy and thereby avoid unnecessary thyroid resections. However, cytology results are dependent on experience of the respective cytologist and unfortunately inconclusive in many cases. Methods: Molecular genetic markers are already used nowadays to enhance sensitivity and specificity of FNAB cytology in some centers in Germany. The most clinically relevant molecular genetic markers as pre-operative diagnostic tools and the clinical implications for the intraoperative and postoperative management were reviewed. Results: Molecular genetic markers predominantly focus on the preoperative detection of thyroid malignancies rather than the exclusion of thyroid carcinomas. While some centers routinely assess FNABs, other centers concentrate on FNABs with cytology results of follicular neoplasia or suspicion of thyroid carcinoma. Predominantly mutations of BRAF, RET/PTC, RAS, and PAX8/PPARγ or expression of miRNAs are analyzed. However, only the detection of BRAF mutations predicts the presence of (papillary) thyroid malignancy with almost 98% probability, indicating necessity of oncologic thyroid resections irrespective of the cytology result. Other genetic alterations are associated with thyroid malignancy with varying frequency and achieve less impact on the clinical management. Conclusion: Molecular genetic analysis of FNABs is increasingly performed in Germany. Standardization, quality controls, and validation of various methods need to be implemented in the near future to be able to compare the results. With increasing knowledge about the impact of genetic alterations on the prognosis of thyroid carcinomas, recommendations have to be defined that may lead to individually optimized treatment strategies.

Molecular genetic background of haemophilia A patients with discrepancy between one-stage and two-stage factor VIII assays

2010 ◽  
Vol 30 (S 01) ◽  
pp. S153-S155
Author(s):  
D. Delev ◽  
S. Pahl ◽  
J. Driesen ◽  
H. Brondke ◽  
J. Oldenburg ◽  
...  
Keyword(s):  
Factor Viii ◽  
Genetic Background ◽  
Molecular Genetic ◽  
Haemophilia A ◽  
Two Stage ◽  
One Stage
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