A novel method of detecting mitochondrial m.1494C&gt;T and m.1555A&gt;G mutations in a single PCR reaction using base-quenched probe

Zheng, Lu; Luo, Guanghua; Zhang, Xiaoying; Zhang, Jun; Mu, Qinfeng; Jiang, Weijia; Feng, Yuehua; Yu, Yang; Pan, Lili; Xu, Ning

doi:10.1016/j.cca.2010.08.040

Cited by 7 publications

(3 citation statements)

References 21 publications

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“…The homozygous G genotype and the base-quenched probe had corresponding base pairs, resulting in a high melting temperature (TM). When the homozygous A genotype was present, a mismatch in the base pairs occurred and the TM was reduced, as previously described (11). The heterozygous genotype was characterized by two TM valleys (Fig.…”

Section: Resultsmentioning

confidence: 75%

Association between the ABCC11 gene polymorphism and the expression of apolipoprotein D by the apocrine glands in axillary osmidrosis

Zhu

Zhang

Luo

et al. 2015

Molecular Medicine Reports

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It has been suggested that the adenosine triphosphate‑binding cassette sub‑family C member 11 (ABCC11) gene polymorphism and apolipoprotein D (ApoD), an odor precursor carrier, may be important in the formation of axillary odor. To date, few studies have examined the potential correlation between these two factors. The present study aimed to investigate the association between a 538 G>A single‑nucleotide polymorphism (SNP) of the ABCC11 gene and the mRNA expression levels of ApoD in the apocrine gland of patients with osmidrosis. The 538 G>A polymorphism genotypes of 33 patients with a clinical diagnosis of osmidrosis were analyzed by polymerase chain reaction (PCR) and a base‑quenched probe method, and they were divided into two groups according to the results. The G allele functions as a dominant gene; therefore, patients with the GG or GA genotype were allocated to Group I (n=28) and patients with the AA genotype to Group II (n=5). The mRNA expression levels of ApoD in the apocrine glands were determined by reverse transcription‑PCR. The results indicated that the mRNA expression levels of ApoD were significantly higher in the apocrine glands of patients in Group I compared with those in Group II (P<0.01). In conclusion, the results indicated that the ABCC11 gene SNP of the 538 G>A allele was associated with a downregulation of the mRNA expression of ApoD in the apocrine glands, which may indicate a role for the ABCC11 gene in the mediation of osmidrosis by enhancing the transition of odor precursors via the ApoD pathway.

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Section: Resultsmentioning

confidence: 75%

Association between the ABCC11 gene polymorphism and the expression of apolipoprotein D by the apocrine glands in axillary osmidrosis

Zhu

Zhang

Luo

et al. 2015

Molecular Medicine Reports

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“…Other innovative methods for screening MT-RNR1 include MassArray (Sequenom Inc, USA)(that combines a highly specific polymerase chain reaction [PCR] and the accuracy of mass spectrometry)[ 38 ] and the “on/off switch” that is combined with PCR. [ 39 ] Base quenched probe technique in a PCR assay[ 40 ] and the multiplex primer extension methods[ 41 ] were described as the most appropriate for mass screening of MT-RNR1. The denaturing high-performance liquid chromatography[ 42 ] method was found to be simple, accurate and cost effective whereas, Li et al .…”

Section: Methodsmentioning

confidence: 99%

A meta-analysis and systematic review of the prevalence of mitochondrially encoded 12S RNA in the general population: Is there a role for screening neonates requiring aminoglycosides?

Ibekwe¹,

Bhimrao²,

Westerberg³

et al. 2015

Afr J Paediatr Surg

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Background:This was a meta-analysis and systematic review to determine the global prevalence of the mitochondrially encoded 12S RNA (MT-RNR1) genetic mutation in order to assess the need for neonatal screening prior to aminoglycoside therapy.Materials and Methods:A comprehensive search of MEDLINE, EMBASE, Ovid, Database of Abstracts of Reviews of Effect, Cochrane Library, Clinical Evidence and Cochrane Central Register of Trials was performed including cross-referencing independently by 2 assessors. Selections were restricted to human studies in English. Meta-analysis was done with MetaXL 2013.Results:Forty-five papers out of 295 met the criteria. Pooled prevalence in the general population for MT-RNR1 gene mutations (A1555G, C1494T, A7445G) was 2% (1–4%) at 99%.Conclusion:Routine screening for MT-RNR1 mutations in the general population prior to treatment with aminoglycosides appear desirable but poorly supported by the weak level of evidence available in the literature. Routine screening in high-risk (Chinese and Spanish) populations appear justified.

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“…Two-dimensional PCR (2D-PCR) is based on the base-quenching probe technology previously developed by our group and is mainly used for the detection of single-nucleotide polymorphisms 12 – 17 . Presently, our team has successfully established a single-tube method for the differential diagnosis of nine types of high-risk human papillomaviruses using 2D-PCR 18 .…”

Section: Introductionmentioning

confidence: 99%

A novel method for detecting nine hotspot mutations of deafness genes in one tube

Yu,

Zhang,

Zhan

et al. 2024

Sci Rep

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Deafness is a common sensory disorder. In China, approximately 70% of hereditary deafness originates from four common deafness-causing genes: GJB2, SLC26A4, GJB3, and MT-RNR1. A single-tube rapid detection method based on 2D-PCR technology was established for nine mutation sites in the aforementioned genes, and Sanger sequencing was used to verify its reliability and accuracy. The frequency of hotspot mutations in deafness genes was analysed in 116 deaf students. 2D-PCR identified 27 genotypes of nine loci according to the melting curve of the FAM, HEX, and Alexa568 fluorescence channels. Of the 116 deaf patients, 12.9% (15/116) carried SLC26A4 mutations, including c.919-2A > G and c.2168A > G (allele frequencies, 7.3% and 2.2%, respectively). The positivity rate (29.3%; 34/116) was highest for GJB2 (allele frequency, 15.9% for c.235delC, 6.0% for c.299_300delAT, and 2.6% for c.176-191del16). Sanger sequencing confirmed the consistency of results between the detection methods based on 2D-PCR and DNA sequencing. Common pathogenic mutations in patients with non-syndromic deafness in Changzhou were concentrated in GJB2 (c.235delC, c.299_300delAT, and c.176-191del16) and SLC26A4 (c.919-2A > G and c.2168 A > G). 2D-PCR is an effective method for accurately and rapidly identifying deafness-related genotypes using a single-tube reaction, and is superior to DNA sequencing, which has a high cost and long cycle.

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A novel method of detecting mitochondrial m.1494C>T and m.1555A>G mutations in a single PCR reaction using base-quenched probe

Abstract: "A novel method of detecting mitochondrial m.1494C > T and m.1555A > G mutations in a single PCR reaction using base-quenched probe"

Cited by 7 publications

References 21 publications

Association between the ABCC11 gene polymorphism and the expression of apolipoprotein D by the apocrine glands in axillary osmidrosis

Association between the ABCC11 gene polymorphism and the expression of apolipoprotein D by the apocrine glands in axillary osmidrosis

A meta-analysis and systematic review of the prevalence of mitochondrially encoded 12S RNA in the general population: Is there a role for screening neonates requiring aminoglycosides?

A novel method for detecting nine hotspot mutations of deafness genes in one tube

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