Schizophrenia and Marfan Syndrome

1990 ◽  
Vol 157 (3) ◽  
pp. 433-436 ◽  
Author(s):  
Pinkhas Sirota ◽  
Moshe Frydman ◽  
Lea Sirota
Keyword(s):  
Linkage Disequilibrium ◽  
Candidate Gene ◽  
Marfan Syndrome ◽  
Susceptibility Gene ◽  
Cytogenetic Abnormality ◽  
Candidate Gene Approach ◽  
First Degree Relatives ◽  
Schizophrenia Susceptibility

Five index patients and three of their first-degree relatives were affected both by schizophrenia and Marfan syndrome. Since the association appears statistically significant, the possibility of linkage disequilibrium between adjacent genes or a cytogenetic abnormality causing both disorders is suggested. These hypotheses are testable and hold promise in attempting to map the ‘schizophrenia susceptibility gene’ by the candidate-gene approach.

Selection of Genes and Single Nucleotide Polymorphisms for Fine Mapping Starting From a Broad Linkage Region

2007 ◽  
Vol 10 (6) ◽  
pp. 871-885 ◽  
Author(s):  
An Windelinckx ◽  
Robert Vlietinck ◽  
Jeroen Aerssens ◽  
Gaston Beunen ◽  
Martine A. I. Thomis
Keyword(s):  
Linkage Disequilibrium ◽  
Candidate Gene ◽  
Candidate Genes ◽  
Fine Mapping ◽  
Complex Disease ◽  
Gene Selection ◽  
Candidate Gene Approach ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Selection Of

AbstractFine mapping of linkage peaks is one of the great challenges facing researchers who try to identify genes and genetic variants responsible for the variation in a certain trait or complex disease. Once the trait is linked to a certain chromosomal region, most studies use a candidate gene approach followed by a selection of polymorphisms within these genes, either based on their possibility to be functional, or based on the linkage disequilibrium between adjacent markers. For both candidate gene selection and SNP selection, several approaches have been described, and different software tools are available. However, mastering all these information sources and choosing between the different approaches can be difficult and time-consuming. Therefore, this article lists several of these in silico procedures, and the authors describe an empirical two-step fine mapping approach, in which candidate genes are prioritized using a bioinformatics approach (ENDEAVOUR), and the top genes are chosen for further SNP selection with a linkage disequilibrium based method (Tagger). The authors present the different actions that were applied within this approach on two previously identified linkage regions for muscle strength. This resulted in the selection of 331 polymorphisms located in 112 different candidate genes out of an initial set of 23,300 SNPs.

Mutant small heat shock protein B3 causes motor neuropathy: Utility of a candidate gene approach

Neurology ◽  
2010 ◽  
Vol 74 (6) ◽  
pp. 502-506 ◽  
Author(s):  
S. J. Kolb ◽  
P. J. Snyder ◽  
E. J. Poi ◽  
E. A. Renard ◽  
A. Bartlett ◽  
...  
Keyword(s):  
Heat Shock ◽  
Heat Shock Protein ◽  
Candidate Gene ◽  
Small Heat Shock Protein ◽  
Candidate Gene Approach ◽  
Motor Neuropathy

Cold Sweetening in Diploid Potato: Mapping Quantitative Trait Loci and Candidate Genes

Genetics ◽  
2002 ◽  
Vol 162 (3) ◽  
pp. 1423-1434
Author(s):  
Cristina M Menéndez ◽  
Enrique Ritter ◽  
Ralf Schäfer-Pregl ◽  
Birgit Walkemeier ◽  
Alexandra Kalde ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Cold Storage ◽  
Quantitative Trait ◽  
Metabolic Pathways ◽  
Sugar Content ◽  
Candidate Gene Approach ◽  
Diploid Potato ◽  
Glucose Content ◽  
Gene Markers ◽  
Cold Sweetening

Abstract A candidate gene approach has been used as a first step to identify the molecular basis of quantitative trait variation in potato. Sugar content of tubers upon cold storage was the model trait chosen because the metabolic pathways involved in starch and sugar metabolism are well known and many of the genes have been cloned. Tubers of two F1 populations of diploid potato grown in six environments were evaluated for sugar content after cold storage. The populations were genotyped with RFLP, AFLP, and candidate gene markers. QTL analysis revealed that QTL for glucose, fructose, and sucrose content were located on all potato chromosomes. Most QTL for glucose content mapped to the same positions as QTL for fructose content. QTL explaining >10% of the variability for reducing sugars were located on linkage groups I, III, VII, VIII, IX, and XI. QTL consistent across populations and/or environments were identified. QTL were linked to genes encoding invertase, sucrose synthase 3, sucrose phosphate synthase, ADP-glucose pyrophosphorylase, sucrose transporter 1, and a putative sucrose sensor. The results suggest that allelic variants of enzymes operating in carbohydrate metabolic pathways contribute to the genetic variation in cold sweetening.

scholarly journals Pharmacogenomic polygenic risk score for clopidogrel responsiveness among Caribbean Hispanics: A candidate gene approach

2021 ◽  
Author(s):  
Jorge Duconge ◽  
Ednalise Santiago ◽  
Dagmar F. Hernandez‐Suarez ◽  
Mariangeli Moneró ◽  
Andrés López‐Reyes ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Risk Score ◽  
Candidate Gene Approach ◽  
Polygenic Risk Score ◽  
Polygenic Risk
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