Search results for " Polymorphism."

Mitochondrial Dna Variation in Rhopalosiphum padi (Homoptera: Aphididae) Populations from four Spanish Localities

1992

In total, 35 clones of the bird cherry-oat aphid, Rhopalosiphum padi (L.) established from samples collected in four distant localities of Spain during fall 1989 and spring 1990 were examined for mitochondrial DNA variation using 20 restriction endonucleases. Individual parthenogenetic adults were used to establish clonal lines on wheat (‘Talento’) seedlings. Restriction site polymorphism was detected only with endonuclease Rsa I, but no statistical treatment of data could be done until more polymorphic endonucleases are found. Length variation of the mitochondrial DNA molecule, however, was extensive among R. padi clones. Distribution among populations of this size polymorphism was used to…

Closing the case ofAPOEin multiple sclerosis: no association with disease risk in over 29 000 subjects: Figure 1

2012

Background Single nucleotide polymorphisms (SNPs) rs429358 (e4) and rs7412 (e2), both invoking changes in the amino-acid sequence of the apolipoprotein E (APOE) gene, have previously been tested for association with multiple sclerosis (MS) risk. However, none of these studies was sufficiently powered to detect modest effect sizes at acceptable type-I error rates. As both SNPs are only imperfectly captured on commonly used microarray genotyping platforms, their evaluation in the context of genome-wide association studies has been hindered until recently. Methods We genotyped 12 740 subjects hitherto not studied for their APOE status, imputed raw genotype data from 8739 subjects from five ind…

Mutations and polymorphisms of the PAH gene in Sicily: comparison with other DNA polymorphisms

2000

Screening and identification ofvipgenes inBacillus thuringiensisstrains

2009

Aims:  To identify known vip genes and to detect potentially novel vip genes in a collection of 507 strains of Bacillus thuringiensis. Methods and Results:  Following a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) strategy, four restriction patterns were found within the vip1 family: vip1Aa1, vip1Ba1/vip1Ba2 and vip1Ca. In the screening of vip2 genes, patterns similar to those of vip2Aa1, vip2Ba1/vip2Ba2 and vip2Ac1 genes were observed. Patterns for vip3Aa1, vip3Ae2 and vip3Af1 were found among vip3 genes. Two new patterns revealed novel vip1 and vip3A genes. The observed frequency of genes belonging to vip1 and vip2 families was around 10%, whereas 48·9% of…

Application of DNA Polymorphisms in Paternity Testing in Germany: Solution of an Incest Case Using Bacteriophage M13 Hybridization with Hypervariable…

1988

More than 25 blood, serum, and enzyme polymorphisms have been introduced into paternity testing in Germany in recent years (Rittner, 1975). If a “no” decision is defined by exclusion, and a “yes” decision requires a probability of 99.73 % or more, more than 90 % of court cases can be solved in this respect. A few cases not being clarified by a standard expertise include: 1) Cases with more than one alleged man if the men and/or the mother and the men are related. 2) Some cases where the putative father is deceased, and neither the parents nor the legitimate offspring are available for the study. 3) Cases where possible exclusion in a given polymorphic system interferes with an overall evide…

Screening for multiple hereditary hypercoagulability factors using the amplification refractory mutation system

2003

Many hereditary factors have been implicated in the development of arterial and/or venous thromboembolic diseases. A number of these risk factors can be identified by the amplification refractory mutation system (ARMS). However, the underlying technical conditions for performing ARMS are highly variable, and depend on which risk factors are being analyzed. We have now developed a novel ARMS-based system to simultaneously screen for multiple hypercoagulability factors under identical PCR conditions. This can greatly simplify the process of screening for hereditary hypercoagulability.

Supportive evidence for FOXP 1 , BARX 1 , and FOXF 1 as genetic risk loci for the development of esophageal adenocarcinoma

2015

The Barrett's and Esophageal Adenocarcinoma Consortium (BEACON) recently performed a genome-wide association study (GWAS) on esophageal adenocarcinoma (EAC) and Barrett's esophagus. They identified genome-wide significant association for variants at three genes, namely CRTC1, FOXP1, and BARX1. Furthermore, they replicated an association at the FOXF1 gene that has been previously found in a GWAS on Barrett's esophagus. We aimed at further replicating the association at these and other loci that showed suggestive association with P < 10(-4) in the BEACON sample. In total, we tested 88 SNPs in an independent sample consisting of 1065 EAC cases and 1019 controls of German descent. We could repl…

Genetic polymorphism in dopamine receptor D4 is associated with early body condition in a large population of greater flamingos,Phoenicopterus roseus

2012

Body condition is an important determinant of fitness in many natural populations. However, as for many fitness traits, the underlying genes that regulate body condition remain elusive. The dopamine receptor D4 gene (DRD4) is a promising candidate as dopamine is known to play an important role in the regulation of food intake and the metabolism of both glucose and lipids in vertebrates. In this study, we take advantage of a large data set of greater flamingos, Phoenicopterus roseus, to test whether DRD4 polymorphism predicts early body condition (EBC) while controlling for whole-genome effects of inbreeding and outbreeding using microsatellite multilocus heterozygosity (MLH). We typed 670 o…

Genome-wide homozygosity and risk of four non-Hodgkin lymphoma subtypes

2021

Aim: Recessive genetic variation is thought to play a role in non-Hodgkin lymphoma (NHL) etiology. Runs of homozygosity (ROH), defined based on long, continuous segments of homozygous SNPs, can be used to estimate both measured and unmeasured recessive genetic variation. We sought to examine genome-wide homozygosity and NHL risk.Methods: We used data from eight genome-wide association studies of four common NHL subtypes: 3061 chronic lymphocytic leukemia (CLL), 3814 diffuse large B-cell lymphoma (DLBCL), 2784 follicular lymphoma (FL), and 808 marginal zone lymphoma (MZL) cases, as well as 9374 controls. We examined the effect of homozygous variation on risk by: (1) estimating the fraction o…

Copy Number Variation and Missense Mutations of the Agouti Signaling Protein (&lt;i&gt;ASIP)&lt;/i&gt; Gene in Goat Breeds with Different Coat Colors

2009

In goats, classical genetic studies reported a large number of alleles at the &lt;i&gt;Agouti&lt;/i&gt; locus with effects on coat color and pattern distribution. From these early studies, the dominant &lt;i&gt;A&lt;/i&gt;&lt;sup&gt;Wt&lt;/sup&gt; (white/tan) allele was suggested to cause the white color of the Saanen breed. Here, we sequenced the coding region of the goat &lt;i&gt;ASIP&lt;/i&gt; gene in 6 goat breeds (Girgentana, Maltese, Derivata di Siria, Murciano-Granadina, Camosciata delle Alpi, and Saanen), with different coat colors and patterns. Five single nucleotide polymorphisms (SNPs) were identified, 3 of which caused missense mutations in conserved positions of the cysteine-ri…