Search results for "polymorph"
showing 10 items of 2115 documents
A genetic linkage map ofPhysocarpus, a member of the Spiraeoideae (Rosaceae), based on RAPD, AFLP, RGA, SSR and gene specific markers
2008
Physocarpus opulifolius is a deciduous shrub native to North America belonging to the Spiraeoideae subfamily of the Rosaceae. The cultivars 'Luteus' and 'Diabolo' are grown in gardens for their ornamental foliage, golden and purple respectively. We developed a linkage map of P. opulifolius with a view to detecting markers for the leaf colour genes, which are under major gene control. A total of 162 molecular markers (128 RAPDs, 27 AFLPs, three RGA, three STS markers and one SSR) and the leaf colour genes Pur and Aur were scored in the Physocarpus progeny and used to create a linkage map covering 586.1 cM over nine linkage groups. There was an average of 18.2 markers per linkage group and a …
The Association between a MAOB Variable Number Tandem Repeat Polymorphism and Cocaine and Opiate Addictions in Polyconsumers
2021
Genetic analysis of the association between alcohol, cocaine, and opiate addiction and variable number tandem repeat (VNTR) polymorphisms in monoamine oxidase B (MAOB) and serotonergic 5-hydroxytryptamine (serotonin) receptor 1B and 2C (HTR1B 21 and HTR2C) pathway genes was performed in a sample of 302 polyconsumers. Our genetic association analysis revealed a significant association between a 184 base pair (bp) VNTR polymorphism in the MAOB gene and addiction to cocaine and opiates. This work highlights new genetic marker associations in cocaine and opiate polyconsumer addictions. These data help to clarify and quantify the complex role of genetics in addictive disorders, as well as their …
Microduplications At 22q11.21 are Associated with Classic Bladder Exstrophy
2010
Purpose Classic exstrophy of the bladder (CBE) is part of the exstrophy-epispadias complex (EEC), a spectrum of urogenital anomalies in which part or all of the distal urinary tract fails to close. Familial occurrence has been observed, and previous studies have suggested an underlying multifactorial mode of inheritance. To date, no causative genetic or non-genetic factor has been unequivocally identified in humans. The present study aimed to identify microaberrations characterized by loss or gain of genomic material that contribute to the EEC at a genome-wide level. Material and Methods Molecular karyotyping, utilizing 549,839 single nucleotide polymorphisms (SNPs) with an average spacing …
Identification and prevention of genotyping errors caused by G-quadruplex- and i-motif-like sequences.
2009
Abstract Background: Reliable PCR amplification of DNA fragments is the prerequisite for most genetic assays. We investigated the impact of G-quadruplex– or i-motif–like sequences on the reliability of PCR-based genetic analyses. Methods: We found the sequence context of a common intronic polymorphism in the MEN1 gene (multiple endocrine neoplasia I) to be the cause of systematic genotyping errors by inducing preferential amplification of one allelic variant [allele dropout (ADO)]. Bioinformatic analyses and pyrosequencing-based allele quantification enabled the identification of the underlying DNA structures. Results: We showed that G-quadruplex– or i-motif–like sequences can reproducibly …
The haplotype distribution of two genes of citrus tristeza virus is altered after host change or aphid transmission.
1999
Genetic variability of citrus tristeza virus (CTV) was studied using the haplotypes detected by single-strand conformation polymorphism (SSCP) analysis of genes p18 and p20 in six virus populations of two origins. The Spanish group included a CTV isolate and subisolates obtained by graft-transmission to different host species. The other included two subisolates aphid-transmitted from a single Japanese isolate. The homozygosity observed for gene p20 was always significantly higher than that expected under neutral evolution, whereas only three populations showed high homozygosity for p18, suggesting stronger host constraints for p20 than for p18. Sequential transmissions of a Spanish isolate …
Successful Replication of GWAS Hits for Multiple Sclerosis in 10,000 Germans Using the Exome Array
2015
Genome-wide association studies (GWAS) successfully identified various chromosomal regions to be associated with multiple sclerosis (MS). The primary aim of this study was to replicate reported associations from GWAS using an exome array in a large German study. German MS cases (n = 4,476) and German controls (n = 5,714) were genotyped using the Illumina HumanExome v1-Chip. Genotype calling was performed with the Illumina Genome Studio(TM) Genotyping Module, followed by zCall. Single-nucleotide polymorphisms (SNPs) in seven regions outside the human leukocyte antigen (HLA) region showed genome-wide significant associations with MS (P values < 5 × 10(-8) ). These associations have been repor…
Genetic differentiation in the striped dolphin Stenella coeruleoalba from European waters according to mitochondrial DNA (mtDNA) restriction analysis
1999
We used mitochondrial DNA (mtDNA) restriction analysis to study genetic variation in 98 striped dolphins (Stenella coeruleoalba) stranded on coasts from different European countries and from animals caught by fisheries. A total of 63 different restriction sites was mapped after digestion of mtDNA with 15 restriction endonucleases that yielded a total of 27 haplotypes. No haplotype was shared between Mediterranean and Atlantic areas. All the analyses indicate the existence of two different populations with a very limited gene flow across the Strait of Gibraltar.
Temporal changes of chromosomal polymorphism in natural populations of Drosophila subobscura
1984
The behaviour of the chromosomal polymorphism of D. subobscura was analyzed in relation to temporal changes, daily, seasonal and annual. Firstly, chromosome analyses were carried out over a year in a natural population. Samples were taken at monthly intervals in Tibidabo, a locality close to Barcelona. In all the months except January, the number of individuals captured was enough to carry out a chromosome analysis of that population. The A, E and O chromosomes showed a great uniformity in the frequencies of gene arrangement over the year. However, significant changes occur in the frequencies of J and U chromosomes. The J1 and U1+2+8 arrangements showed a similar tendency, with two maxima, …
A study of the polymorphism and ethnic distribution differences of human serum paraoxonase
1983
The enzyme serum paraoxonase shows a polymorphism in Europeans which is governed by two alleles. The first allele has a gene frequency plow of 0.716–0.777, and is manifested as a low activity group in homozygotes. More than 50% of all European test subjects can be included in this group. A second allele with a gene frequency qhigh of 0.223–0.284 was found in typical European distributions and is manifested in both the form of a second heterozygotic and a third homozygotic group with high activities. The Hardy-Weinberg rule for a two-allele model is valid for the distribution. The gene frequency plow of the first allele decreases as one moves from Europe in the direction of Africa and Asia. …
PrP Gene Polymorphism in Medieval Remains of Sicilian Sheep
2015
Encephalopathy in sheep was at first described in Ireland in 1732 and was called scrapie. Ancient DNA in archaeogenetics represents an effective method to evaluate the ancestral pedigree of living animals and track evolutionary changes occurred between the past and the present day. Since several point mutations are today widely described in modern scrapie, no data about both sequence and frequency are still available for the prion protein (PrP) gene in ancient breeds. In order to evaluate whether the haplotypes distribution in ancient sheep differed from those of the modern population we evaluated polymorphism at four well know codons of the Prp Open Reading Frame. In the present work, we c…