Double Fluorescent-amplification Refractory Mutation Detection (dF-ARMS) of the Factor V Leiden and Prothrombin Mutations

Maher, Caroline; Crowley, Dolores; Cullen, Carmel; Wall, Carmel; Royston, David; Fanning, Séamus

doi:10.1055/s-0037-1614422

Cited by 12 publications

(6 citation statements)

References 32 publications

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“…The detection of the C2590G (P864A) polymorphism was performed by a double fluorescent tetra-primer amplification refractory mutation system PCR (dF-T-ARMS-PCR) 34 . Two allele-specific primer pairs were designed according to the requirements of the df-T-ARMS-PCR protocol.…”

Section: Methodsmentioning

confidence: 99%

Diurnal preference, mood and the response to morning light in relation to polymorphisms in the human clock gene PER3

Turco

Biscontin

Corrias

et al. 2017

Sci Rep

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PER3 gene polymorphisms have been associated with differences in human sleep-wake phenotypes, and sensitivity to light. The aims of this study were to assess: i) the frequency of allelic variants at two PER3 polymorphic sites (rs57875989 length polymorphism: PER3 4, PER3 5; rs228697 SNP: PER3 C, PER3 G) in relation to sleep-wake timing; ii) the effect of morning light on behavioural/circadian variables in PER3 4 /PER3 4 and PER3 5 /PER3 5 homozygotes. 786 Caucasian subjects living in Northern Italy donated buccal DNA and completed diurnal preference, sleep quality/timing and sleepiness/mood questionnaires. 19 PER3 4 /PER3 4 and 11 PER3 5 /PER3 5 homozygotes underwent morning light administration, whilst monitoring sleep-wake patterns and the urinary 6-sulphatoxymelatonin (aMT6s) rhythm. No significant relationship was observed between the length polymorphism and diurnal preference. By contrast, a significant association was observed between the PER3 G variant and morningness (OR = 2.10), and between the PER3 G-PER3 4 haplotype and morningness (OR = 2.19), for which a mechanistic hypothesis is suggested. No significant differences were observed in sleep timing/aMT6s rhythms between PER3 5 /PER3 5 and PER3 4 /PER3 4 subjects at baseline. After light administration, PER3 4 /PER3 4 subjects advanced their aMT6s acrophase (p < 0.05), and showed a trend of advanced sleep-wake timing. In conclusion, significant associations were observed between PER3 polymorphic variants/their combinations and both diurnal preference and the response to light.

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Section: Methodsmentioning

confidence: 99%

Diurnal preference, mood and the response to morning light in relation to polymorphisms in the human clock gene PER3

Turco

Biscontin

Corrias

et al. 2017

Sci Rep

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“…To speed up the ASA protocols, several groups introduced modifications allowing the genotype detection in a single reaction. One approach is the application of multi-color fluorophore-labeled primers [Maher et al, 1999], another is the tetra-primer PCR system where the two allelespecific primers point into opposite direction [Liu et al, 1997]. We previously used the tetraprimer system for genotyping the factor V Leiden mutation [SasvariSzekely et al, 2000] and for the À521 C/T SNP in the 5 0 upstream region of the DRD4 gene [Ronai et al, 2001].…”

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confidence: 99%

A novel A/G SNP in the −615th position of the dopamine D4 receptor promoter region as a source of misgenotyping of the −616 C/G SNP

Rónai

Szantai

Szmola

et al. 2003

American J of Med Genetics Pt B

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The polymorphic 5' upstream region of the dopamine D4 receptor (DRD4) gene containing several single nucleotide polymorphisms (SNPs) has recently become a focus of association studies in psychiatric genetics. Most SNP genotyping methods are based on the two-step procedure of restriction fragment length polymorphism (RFLP). An alternative technique is a single-step method of allele-specific amplification (ASA), previously introduced for genotyping the -521 C/T SNP of the DRD4 promoter region and applied here for the -616 C/G SNP. Parallel genotyping of individuals with the novel ASA method and the conventionally used Ava II RFLP showed a potential underestimation of the -616 GG genotype frequency by the conventional method. Sequencing the dubious samples clearly demonstrated a novel A/G SNP at the -615th position influencing the Ava II digestion and thus resulting in misgenotyping. To avoid this problem, we introduced the Sau96 I RFLP for the -616 C/G genotyping as this restriction enzyme is not sensitive for the -615 A/G sequence variation. Allele (-616 G = 0.48; -616 C = 0.52) and genotype (-616 GG = 0.25; -616 GC = 0.46; -616 CC = 0.29) frequencies were determined by both the novel ASA and the Sau96 I methods. The obtained genotype frequencies corresponded to the Hardy-Weinberg equilibrium in our healthy Caucasian sample (N = 534, P = 0.168). Using these methods, no association was found between the -616 C/G SNP and personality factors of Cloninger's temperament and character inventory (N = 153) in our population.

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“…In the study of the Factor V Leiden mutation, previous work has used a wide range of detection methods other than gel electrophoresis (Reuner et al, 1997;Tripodi et al, 1997), to detect the PCR products produced by RFLP, SSCP (Arruda et al, 1996;Margaglione, 1996;Geisel et al, 1998), df-ARMS (Maher et al, 1999), and heteroduplexes (Bowen et al, 1997). These include chemiluminescence (Ballering et al, 1996), electrochemiluminescence (Klingler et al, 1999), colored primers for photoimmobilized locked samples (Orum et al, 1999), colorimetric enzyme-linked immunosorbent assay (ELISA)-type assays (Wilde et al, 1999), fluorescence for melting curves (Lyondagger et al, 1998), cross-linked hybrids , PNA (Behn and Schuermann, 1998), enzyme immunoassay (Vary et al, 1996), enzyme immunoassay with LCx microparticles (Hunault et al, 1999), microtitration plate-based oligonucleotide hybridization , the Invader technique (Ryan et al, 1999), NASBAR RNA amplification , and DNA ligation assays (Benson et al, 1996;Zotz et al, 1996).…”

Section: Discussionmentioning

confidence: 99%

Factor V Leiden Mutation Screened by PCR and Detected with Lanthanide-Labeled Probes

Potter¹,

Liu

Rees

2001

Genetic Testing

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The Factor V Leiden mutation is an important human polymorphism, responsible for increased risk of venous thrombosis in heterozygotes as well as homozygotes. Therefore, screening is a useful possibility, and many detection systems have been described for PCR products. We have developed a simplified and robust assay using oligonucleotide probes for normal and mutant sequences, labeled with europium and samarium, respectively, and measured by time-resolved fluorescence. Populations consisting of 233 Welsh and 148 Irish subjects were examined by both restriction fragment length polymorphism (RFLP) analysis and our assay. The allele frequency was 14/466 in the Welsh and 5/296 in the Irish population, in line with other surveys of European populations. Results were not obtained in 2/381 samples by RFLP, compared with 1/381 with our method. We conclude that our method represents an improved system capable of considerable throughput at reasonable cost.

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Double Fluorescent-amplification Refractory Mutation Detection (dF-ARMS) of the Factor V Leiden and Prothrombin Mutations

Cited by 12 publications

References 32 publications

Diurnal preference, mood and the response to morning light in relation to polymorphisms in the human clock gene PER3

Diurnal preference, mood and the response to morning light in relation to polymorphisms in the human clock gene PER3

A novel A/G SNP in the −615th position of the dopamine D4 receptor promoter region as a source of misgenotyping of the −616 C/G SNP

Factor V Leiden Mutation Screened by PCR and Detected with Lanthanide-Labeled Probes

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