scholarly journals A single nucleotide polymorphism in the HDM-2 gene regulates the p53 apoptotic response and influences the age of onset of cancers in humans: the SNP 309 HDM-2 polymorphism

2005 ◽  
Vol 7 (S2) ◽  
Author(s):  
GL Bond ◽  
AJ Levine
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Age Of Onset ◽  
Nucleotide Polymorphism ◽  
Apoptotic Response ◽  
Single Nucleotide

The role of a single nucleotide polymorphism of MDM2 in glioblastoma multiforme

2008 ◽  
Vol 109 (5) ◽  
pp. 842-848 ◽  
Author(s):  
Rina G. Khatri ◽  
Kapila Navaratne ◽  
Robert J. Weil
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Glioblastoma Multiforme ◽  
Age Of Onset ◽  
Polymerase Chain Reaction Analysis ◽  
Genetic Alterations ◽  
Primary Brain Tumor ◽  
Healthy Controls ◽  
Wild Type ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

Object Glioblastoma multiforme (GBM) is the most common primary brain tumor in adults, with a 5-year survival rate of < 5%. Aberrant function of TP53 is common in GBM. Although mutational inactivation of p53 is found in many cases, there remain tumors in which genetic alterations of p53 are absent. Negative regulators of the TP53 pathway such as MDM2, which directly inhibits TP53 expression and activity, may influence the pathogenesis of GBM. To understand its potential function in gliomagenesis, the authors analyzed a novel single nucleotide polymorphism (SNP) in the MDM2 promoter that enhances MDM2 expression. Methods The investigators isolated DNA from 98 patients with GBM and 102 healthy, cancer-free controls. A polymerase chain reaction analysis was performed to determine the MDM2 SNP309 genotype by using distinct primer pairs for the wild-type (T) and mutant (G) alleles. Results The frequency of the mutant MDM2 polymorphism was found to be higher (p = 0.0092) in patients with GBM (54.6%) compared with healthy controls (41.2%); the TT and GG genotypes were more common in healthy controls and patients with GBM (p = 0.0004 and p = 0.02, respectively). Although there was no association between the MDM2 SNP309 and overall survival, the GG genotype was associated with development of GBM at a younger age in patients with tumors harboring wild-type p53, which may mitigate the effect of the MDM2 SNP. Conclusions Although the MDM2 SNP309 does not portend decreased survival, the increased incidence of the mutant G allele in patients with GBM and its influence on age of onset suggest a potential role in the molecular pathogenesis of GBM, and may be a therapeutic target.

A single nucleotide polymorphism in SLC1A1 gene is associated with age of onset of obsessive-compulsive disorder

2014 ◽  
Vol 29 (5) ◽  
pp. 301-303 ◽  
Author(s):  
S. Dallaspezia ◽  
M. Mazza ◽  
C. Lorenzi ◽  
F. Benedetti ◽  
E. Smeraldi
Keyword(s):  
Gene Expression ◽  
Single Nucleotide Polymorphism ◽  
Obsessive Compulsive Disorder ◽  
Age Of Onset ◽  
Age At Onset ◽  
Functional Polymorphism ◽  
Nucleotide Polymorphism ◽  
Obsessive Compulsive ◽  
Single Nucleotide ◽  
Compulsive Disorder

AbstractDifferent genetic polymorphisms in the SLC1A1 have been shown to be associated with obsessive-compulsive disorder. Rs301430 is a T/C functional polymorphism affecting the gene expression and extrasynaptic glutamate concentration.We observed that Rs301430 influence age at onset in obsessive-compulsive disorder.

Gender-dependent and age-of-onset-specific association of the rs11675434 single-nucleotide polymorphism near TPO with susceptibility to Graves’ ophthalmopathy

2016 ◽  
Vol 62 (3) ◽  
pp. 373-377 ◽  
Author(s):  
Aleksander Kuś ◽  
Konrad Szymański ◽  
Beata Jurecka-Lubieniecka ◽  
Edyta Pawlak-Adamska ◽  
Dorota Kula ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Age Of Onset ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Graves Ophthalmopathy ◽  
Specific Association

UTILIZATION OF DNA MARKERS FOR EVALUATING AMYLOSE CONTENT OF GRAIN IN RICE

2013 ◽  
Vol 83 (5) ◽  
Author(s):  
Dương Thanh Thủy ◽  
Taiichiro Ookawa
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Amylose Content ◽  
Waxy Gene ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Branching Enzymes ◽  
Wx Gene ◽  
High Amylose ◽  
Suitable Marker ◽  
Granule Bound Starch Synthase

The sensory and functional properties of rice are predominantly associated with its amylose content. Granule-bound starch synthase (GBSS) encoded by the Waxy (Wx) gene determines the synthesis of amylose, while starch branching enzymes encoded by Sbe genes are involved in the formation of amylopectin. Some studies have demonstrated that Wx gene is the major controller of amylose content but there are one or more modifying genes affecting the amylose content. Three markers,  microsatellite, Single – nucleotide – polymorphism (G/T SNP) in Wx gene and Single – nucleotide – polymorphism (T/C SNP) in Sbe1 gene, were tested for their association with amylose content using sixty-nine  rice accessions from twenty countries. Of the three markers, two markers in Wx gene are significantly associated with amylose content. The combination of two markers in Wx gene (haplotypes) explained 83.8% of the variation in amylose content and discriminated the three market classes of glutinous, low, intermediate and high amylose content of rice from each other. And T/C SNP in Sbe1 locus was not a suitable marker for amylose content. Keywords: marker, amylose content, Waxy gene.

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