Detection of the single nucleotide polymorphism causing feline autosomal-dominant polycystic kidney disease in Persians from the UK using a novel real-time PCR assay

Helps, Christopher R; Tasker, Séverine; Barr, Frances; Wills, Sheila J; Gruffydd-Jones, TJ

doi:10.1016/j.mcp.2006.07.003

Cited by 27 publications

(25 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…This LOD is 7 × 10 4 fold lower than that the LOD that was obtained by using nanoparticle-based plate reader system (350 ng/mL) [21] with feline PKD + -blood gDNA. In fact, the sensitivity of the PC-DNA assay is comparable to a real-time PCR method for the same PKD target—PCR analysis yielded a LOD of between 3 to 30 gene copies [25] in a similar volume. The real-time PCR method required 90 min for the analysis [25]; our results were obtained at a constant room temperature–without thermal cycling–over 120 min.…”

Section: Resultsmentioning

confidence: 99%

“…In fact, the sensitivity of the PC-DNA assay is comparable to a real-time PCR method for the same PKD target—PCR analysis yielded a LOD of between 3 to 30 gene copies [25] in a similar volume. The real-time PCR method required 90 min for the analysis [25]; our results were obtained at a constant room temperature–without thermal cycling–over 120 min. Although the time comparison may appear to be unfavorable for the PC technique, the time and specificity for the assay were not optimized and could certainly be improved significantly if the assay were performed at a suitably elevated constant temperature.…”

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

On-chip detection of a single nucleotide polymorphism without polymerase amplification

et al. 2014

View full text Add to dashboard Cite

A nanoparticle-assembled photonic crystal (PC) array was used to detect single nucleotide polymorphism (SNP). The assay platform with PC nanostructure enhanced the fluorescent signal from nanoparticle-hybridized DNA complexes due to phase matching of excitation and emission. Nanoparticles coupled with probe DNA were trapped into nanowells in an array by using an electrophoretic particle entrapment system. The PC/DNA assay platform was able to identify a 1 base pair (bp) difference in synthesized nucleotide sequences that mimicked the mutation seen in a feline model of human autosomal dominant polycystic kidney disease (PKD) with a sensitivity of 0.9 fg/mL (50 aM)-sensitivity, which corresponds to 30 oligos/array. The reliability of the PC/DNA assay platform to detect SNP in a real sample was demonstrated by using genomic DNA (gDNA) extracted from the urine and blood of two PKD− wild type and three PKD positive cats. The standard curves for PKD positive (PKD+) and negative (PKD−) DNA were created using two feline-urine samples. An additional three urine samples were analyzed in a similar fashion and showed satisfactory agreement with the standard curve, confirming the presence of the mutation in affected urine. The limit of detection (LOD) was 0.005 ng/mL which corresponds to 6 fg per array for gDNA in urine and blood. The PC system demonstrated the ability to detect a number of genome equivalents for the PKD SNP that was very similar to the results reported with real time polymerase chain reaction (PCR). The favorable comparison with quantitative PCR suggests that the PC technology may find application well beyond the detection of the PKD SNP, into areas where a simple, cheap and portable nucleic acid analysis is desirable.

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

On-chip detection of a single nucleotide polymorphism without polymerase amplification

et al. 2014

View full text Add to dashboard Cite

show abstract

“…DNA from VGL submitted samples was isolated as previously described [35]. LVS submitted samples were supplied from owners as buccal swabs and DNA isolated as described previously [36]. …”

Section: Methodsmentioning

confidence: 99%

Erythrocyte Pyruvate Kinase Deficiency mutation identified in multiple breeds of domestic cats

Grahn

Penedo

et al. 2012

BMC Vet Res

View full text Add to dashboard Cite

BackgroundErythrocyte pyruvate kinase deficiency (PK deficiency) is an inherited hemolytic anemia that has been documented in the Abyssinian and Somali breeds as well as random bred domestic shorthair cats. The disease results from mutations in PKLR, the gene encoding the regulatory glycolytic enzyme pyruvate kinase (PK). Multiple isozymes are produced by tissue-specific differential processing of PKLR mRNA. Perturbation of PK decreases erythrocyte longevity resulting in anemia. Additional signs include: severe lethargy, weakness, weight loss, jaundice, and abdominal enlargement. In domestic cats, PK deficiency has an autosomal recessive mode of inheritance with high variability in onset and severity of clinical symptoms.ResultsSequence analysis of PKLR revealed an intron 5 single nucleotide polymorphism (SNP) at position 304 concordant with the disease phenotype in Abyssinian and Somali cats. Located 53 nucleotides upstream of the exon 6 splice site, cats with this SNP produce liver and blood processed mRNA with a 13 bp deletion at the 3’ end of exon 5. The frame-shift mutation creates a stop codon at amino acid position 248 in exon 6. The frequency of the intronic SNP in 14,179 American and European cats representing 38 breeds, 76 western random bred cats and 111 cats of unknown breed is 6.31% and 9.35% when restricted to the 15 groups carrying the concordant SNP.ConclusionsPK testing is recommended for Bengals, Egyptian Maus, La Perms, Maine Coon cats, Norwegian Forest cats, Savannahs, Siberians, and Singapuras, in addition to Abyssinians and Somalis as well an any new breeds using the afore mentioned breeds in out crossing or development programs.

show abstract

“…Recently, real-time quantitative PCR approaches have been developed to detect mutations in genes causing inherited diseases even in veterinary species including dogs [6, 7], cats [5, 14] and cattle [17]. Real-time PCR is generally considered more sensitive, rapid and less time-consuming than that by conventional PCR for the analysis of genetic variability.…”

mentioning

confidence: 99%

Real-Time PCR Genotyping Assay for GM2 Gangliosidosis Variant 0 in Toy Poodles and the Mutant Allele Frequency in Japan

et al. 2014

View full text Add to dashboard Cite

GM2 gangliosidosis variant 0 (Sandhoff disease, SD) is a fatal, progressive neurodegenerative lysosomal storage disease caused by mutations of the HEXB gene. In canine SD, a pathogenic mutation (c.283delG) of the canine HEXB gene has been identified in toy poodles. In the present study, a TaqMan probe-based real-time PCR genotyping assay was developed and evaluated for rapid and large-scale genotyping and screening for this mutation. Furthermore, a genotyping survey was carried out in a population of toy poodles in Japan to determine the current mutant allele frequency. The real-time PCR assay clearly showed all genotypes of canine SD. The assay was suitable for large-scale survey as well as diagnosis, because of its high throughput and rapidity. The genotyping survey demonstrated a carrier frequency of 0.2%, suggesting that the current mutant allele frequency is low in Japan. However, there may be population stratification in different places, because of the founder effect by some carriers. Therefore, this new assay will be useful for the prevention and control of SD in toy poodles.

show abstract

Detection of the single nucleotide polymorphism causing feline autosomal-dominant polycystic kidney disease in Persians from the UK using a novel real-time PCR assay

Cited by 27 publications

References 8 publications

On-chip detection of a single nucleotide polymorphism without polymerase amplification

On-chip detection of a single nucleotide polymorphism without polymerase amplification

Erythrocyte Pyruvate Kinase Deficiency mutation identified in multiple breeds of domestic cats

Real-Time PCR Genotyping Assay for GM2 Gangliosidosis Variant 0 in Toy Poodles and the Mutant Allele Frequency in Japan

Contact Info

Product

Resources

About