Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system

Funato, Tadao; Nishiyama, Yoshiko; Ioritani, Naomasa; Matsuki, Rikyu; Yoshida, Katsumi; Kaku, Mitsuo; Sasaki, Takeshi; Ideguchi, Hiroshi; Ono, Junko

doi:10.1002/1098-2825(20001212)14:6<274::aid-jcla5>3.0.co;2-2

Cited by 6 publications

(4 citation statements)

References 14 publications

(8 reference statements)

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“…Funato et al developed a homogeneous assay using a closed tube that allowed rapid genotyping with the LightCycler system and used it to identify the APRT*J gene as homozygote or heterozygote [6]. This assay involves allele-specific analysis of probe melting curves at the completion of amplification.…”

Section: Discussionmentioning

confidence: 99%

“…To obtain a melting curve by monitoring the denaturation profile of the PCR product of APRT*J allele in the presence of hybridization probes, we used a LightCycler Ò system (Roche Molecular Biochemicals, Mannheim, Germany). Analysis of LightCycler system was described by Funato et al [6]. This analysis may also be used to identify the relative contributions of mutated versus wild-type sequences to signal level.…”

Section: Casementioning

confidence: 99%

“…An online fluorescence polymerase chain reaction (PCR) detection system and HybProbe chemistry were developed for use in the LightCycler system [5]. Funato et al reported that they had established a rapid and reliable system & Hirokazu Ikeda hiro31@mac.com capable of detecting mutations of the APRT gene using a LightCycler system [6]. We hereby report on two families with DHA urolithiasis using a LightCycler system to identified the APRT*J mutation.…”

Section: Introductionmentioning

confidence: 99%

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Use of LightCycler mutation analysis to detect type II adenine phosphoribosyltransferase deficiency in two patients with 2,8-dihydroxyadeninuria

et al. 2015

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Recently, a number of methods have been devised for detection of mutations in the field of molecular genetics. The LightCycler system has been used for rapid PCR, while simultaneously quantifying and analyzing the amplification results. We tried to apply the LightCycler system to detect APRT*J allele mutations in two families including two children with 2,8-dihydroxyadenine urolithiasis. The first patient was a 3-year-old girl who presented with left flank pain. The second patient was a 2-year-old girl who presented with complaints of sudden dysuria. The spectrophotometric analysis of the stone fragments of both patients revealed an absorption spectrum for 2,8-DHA. We used the LightCycler system to detect APRT*J mutation. The first patient was homozygous for APRT*J/APRT*J and the second patient was compound heterozygous for APRT*J/APRT*Q0. The genetic diagnosis of APRT deficiency using this system may be useful not only as a diagnostic test for infants with known 2,8-DHA, but also as a screening of infants with a suspicion of urolithiasis. We believed that the LightCycler system still is an important means of identifying APRT*J mutation.

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Section: Discussionmentioning

confidence: 99%

Section: Casementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Use of LightCycler mutation analysis to detect type II adenine phosphoribosyltransferase deficiency in two patients with 2,8-dihydroxyadeninuria

et al. 2015

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“…Therefore, we developed a fast and reliable detection method for the SNP at position A118 of the human MOR gene using FRET‐PCR. This technique has already been used effectively for detection of other SNPs in the human genome [11–13].…”

Section: Introductionmentioning

confidence: 99%

A rapid screening method for a single nucleotide polymorphism (SNP) in the human MOR gene

Grösch

Niederberger

Lötsch

et al. 2001

Brit J Clinical Pharma

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Aims Genetic association studies have suggested that the single nucleotide polymorphism (SNP) at position 118 of the human m-opioid receptor (MOR) gene could be a potential risk factor for drug treatment variability in patients. Therefore, we wanted to develop a fast and reliable detection method for this SNP which is applicable in a clinical setting. Methods To detect the polymorphism at position A118pG in the human MOR gene we used the¯uorescence resonance energy transfer (FRET)-PCR technique with subsequent melting curve analysis.Results The polymorphism at position A118pG in the human MOR gene could be clearly discriminated with melting peak temperatures of 69.8u C and 63.8u C, corresponding to the wild type and mutated MOR allele, respectively. The results from FRET-PCR were validated by sequencing and restriction-fragment length polymorphism (RFLP). Screening of blood samples from 100 subjects showed an allelic distribution for the human MOR alleles of 79% (homozygous wild type), 20% (heterozygous) and 0.9% (homozygous mutated). Conclusions The FRET-PCR protocol for detection of the human MOR gene polymorphism at position 118 offers a rapid and reliable method which could be used for population screening of this and other genes.

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Fast extraction, amplification and analysis of genes from human blood

Zhang

Dang

Kaji

et al. 2006

Journal of Chromatography A

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Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system

Cited by 6 publications

References 14 publications

Use of LightCycler mutation analysis to detect type II adenine phosphoribosyltransferase deficiency in two patients with 2,8-dihydroxyadeninuria

Use of LightCycler mutation analysis to detect type II adenine phosphoribosyltransferase deficiency in two patients with 2,8-dihydroxyadeninuria

A rapid screening method for a single nucleotide polymorphism (SNP) in the human MOR gene

Fast extraction, amplification and analysis of genes from human blood

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