Improvement of a Rapid and Highly Sensitive Method for the Diagnosis of the Mitochondrial m.1555A>G Mutation Based on a Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip.


: Aims: Pathogenic variants in mitochondrial DNA are known to be associated with sensorineural hearing loss (SNHL) and aminoglycoside-induced HL. Among them, the m.1555A>G mutation is the most common. Thus, a rapid and easy companion diagnostic method for this mutation would be desirable to prevent HL caused by aminoglycoside therapy. In this study, we report an improved protocol for the single-stranded tag hybridization chromatographic printed-array strip (STH-PAS) method for identifying the m.1555A>G mutation. Methods: To evaluate the accuracy of a novel diagnostic for the m.1555A>G mutation we analyzed 378 DNA samples with or without the m.1555A>G mutation, as determined by Invader assay, and calculated the sensitivity, specificity, and false negative and false positive ratios of this new method. Results: The newly developed protocol was robust; we, obtained the same results using multiple DNA concentrations, differing annealing temperatures, and different polymerase chain reaction thermal cyclers. The diagnostic sensitivity based on the STH-PAS method was 0.99, and the specificity was 1.00. The false negative and false positive ratios were 0 and 0.01, respectively. Conclusion: We improved the genotyping method for m.1555A>G mutations. This assays will be useful as a rapid companion diagnostic before aminoglycoside use.


Isaka Y,Nishio SY,Hishinuma E,Hiratsuka M,Usami SI




Has Abstract


2021-01-01 00:00:00












  • Toll-like receptor 6 and connective tissue growth factor are significantly upregulated in mitomycin-C-treated urothelial carcinoma cells under hydrostatic pressure stimulation.

    abstract:BACKGROUND:Urothelial carcinoma (UC) is the most common histologic subtype of bladder cancer. The administration of mitomycin C (MMC) into the bladder after transurethral resection of the bladder tumor (TURBT) is a common treatment strategy for preventing recurrence after surgery. We previously applied hydrostatic pres...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章


    authors: Chen SK,Chung CA,Cheng YC,Huang CJ,Chen WY,Ruaan RC,Li C,Tsao CW,Hu WW,Chien CC

    更新日期:2014-06-01 00:00:00

  • Assessment of individual susceptibility to baseline DNA and cytogenetic damage in a healthy Turkish population: evaluation with lifestyle factors.

    abstract:BACKGROUND:Cytogenetic biomarkers are most frequently used well-established endpoints in human population studies with their sensitivity for measuring exposure to genotoxic agents. They have an important role as early predictors of cancer risk. Identification of individual genotypes of metabolic gene polymorphisms help...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章


    authors: Kadioglu E,Kocabas NA,Demircigil GC,Coskun E,Ozcagli E,Durmaz E,Karahalil B,Burgaz S,Sardas S

    更新日期:2012-10-01 00:00:00

  • Genotyping the GGGCGG tandem repeat promoter polymorphism in the 5-lipoxygenase enzyme gene (ALOX5) by pyrosequencing assay.

    abstract:AIMS:Efficient genotyping methods for many biologically significant repeat genetic polymorphisms, particularly in GC-rich regions of the genome, are limited. In particular, a short tandem repeat polymorphism [GGCGGG] in the promoter region of ALOX5 has been implicated as an important marker for inflammatory diseases. W...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章


    authors: Schentrup AM,Allayee H,Lima JJ,Johnson JA,Langaee TY

    更新日期:2009-06-01 00:00:00

  • Molecular spectrum of alpha-thalassemia mutations in microcytic hypochromic anemia patients from Saudi Arabia.

    abstract:AIM:To describe the molecular spectrum of alpha-thalassemia molecular defects in a population sample of Saudi Arabian patients from the eastern province. METHODS:DNA was extracted from 41 patients suffering from microcytic, hypochromic anemia. We screened the alpha-globin gene for deletional and nondeletional mutation...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章


    authors: Hellani A,Fadel E,El-Sadadi S,El-Sweilam H,El-Dawood A,Abu-Amero KK

    更新日期:2009-04-01 00:00:00

  • Different Contributions of CDKAL1, KIF21B, and LRRK2/MUC19 Polymorphisms to SAPHO Syndrome, Rheumatoid Arthritis, Ankylosing Spondylitis, and Seronegative Spondyloarthropathy.

    abstract:OBJECTIVES:Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, rheumatoid arthritis (RA), ankylosing spondylitis (AS), and seronegative spondyloarthropathy (SPA) are autoimmune diseases of unknown etiology, which share some clinical manifestations in common. Previous family-based investigations su...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章


    authors: Li N,Ma J,Li K,Guo C,Ming L

    更新日期:2017-02-01 00:00:00

  • Screening for the GJB2 c.-3170 G>A (IVS 1+1 G>A) mutation in Brazilian deaf individuals using multiplex ligation-dependent probe amplification.

    abstract::Mutations in GJB2 gene are the most common cause of nonsyndromic sensorineural recessive hearing loss. One specific mutation, c.35delG, is the most frequent in the majority of Caucasian populations and may account for up to 70% of all GJB2 mutations. However, 10-40% of the patients carry only one pathogenic mutation i...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章


    authors: da Silva-Costa SM,Coeli FB,Lincoln-de-Carvalho CR,Marques-de-Faria AP,Kurc M,Pereira T,Pomilio MC,Sartorato EL

    更新日期:2009-10-01 00:00:00

  • Association Between Apolipoprotein B XbaI Polymorphism and Coronary Heart Disease in Han Chinese Population: A Meta-Analysis.

    abstract:OBJECTIVE:To examine the association between apolipoprotein B (ApoB) XbaI polymorphisms (rs693) and coronary heart disease (CHD) risk among the Han Chinese population by systematically analyzing multiple independent studies. METHODS:The Hardy-Weinberg equilibrium test was applied to check genetic equilibrium among gen...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章,meta分析


    authors: Chen Y,Lin M,Liang Y,Zhang N,Rao S

    更新日期:2016-06-01 00:00:00

  • The role of plasminogen activator inhibitor-1 and angiotensin-converting enzyme gene polymorphisms in bronchopulmonary dysplasia.

    abstract:BACKGROUND:Bronchopulmonary dysplasia (BPD) is a multifactorial disease of preterm infants that is characterized by airway injury, inflammation, and parencymal remodeling. Activation of the coagulation cascade leads to intraalveolar fibrin deposition in many inflammatory pulmonary disorders. Increased fibrin formation ...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章


    authors: Ince DA,Atac FB,Ozkiraz S,Dilmen U,Gulcan H,Tarcan A,Ozbek N

    更新日期:2010-10-01 00:00:00

  • FGB gene - 148C>T polymorphism is associated with increased risk of ischemic stroke in a Chinese population: a meta-analysis based on 18 case-control studies.

    abstract:BACKGROUND:Several published articles investigated the relationship between a polymorphism -148C>T in the β-fibrinogen gene (FGB) and risk of ischemic stroke, and did not reach the same conclusion. To shed light on these inconclusive findings, we performed a meta-analysis of studies relating the FGB genetic polymorphis...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章,meta分析


    authors: Zhang LJ,Li HH,Tao SB,Yuan B,Yan HQ,Chang L,Zhao JH

    更新日期:2014-06-01 00:00:00

  • Polymorphism of ERCC2 Asp312Asn with lung cancer risk: evidence from 20,101 subjects.

    abstract::The association between excision repair cross complementing group 2 (ERCC2) Asp312Asn polymorphism and lung cancer has been reported by many articles recently, but the results were controversial and inconclusive. Therefore, a meta-analysis was conducted to assess the relationship between them. Pooled odds ratios (ORs)...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章,meta分析


    authors: Tan X,Wang Y,Shi L,Xian L,Guo J,Liang G,Chen M

    更新日期:2014-01-01 00:00:00

  • Association of MMP3-1171(5A>6A) polymorphism with lung cancer in Lebanon.

    abstract::Matrix metalloproteinases (MMPs) are a family of enzymes that degrade extracellular matrix components and are involved in the development and progression of cancer. Lung cancer is the most commonly diagnosed cancer in Lebanon. This study was undertaken to investigate the association between -1171(5A>6A) polymorphism i...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章


    authors: Fakhoury HM,Noureddine S,Tamim H,Chmaisse H,Makki R

    更新日期:2012-08-01 00:00:00

  • Mutation screening of the neurexin 1 gene in thai patients with intellectual disability and autism spectrum disorder.

    abstract:AIM:Neurexin 1 has two major protein isoforms using alternative promoters, coding for the alpha-neurexin 1 (α-NRXN1) and beta-neurexin 1 (β-NRXN1) genes. This study is to explore the possibility that variants of the NRXN1 gene predispose to intellectual disability (ID) and autism spectrum disorder (ASD). METHODS:The c...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章


    authors: Yangngam S,Plong-On O,Sripo T,Roongpraiwan R,Hansakunachai T,Wirojanan J,Sombuntham T,Ruangdaraganon N,Limprasert P

    更新日期:2014-07-01 00:00:00

  • Association of Leukocyte Telomere Length and Mitochondrial DNA Copy Number in Children from Salamanca, Mexico.

    abstract:AIM:The purpose of this study was to determine if there is a correlation between telomere length (TL) and mitochondrial DNA copy number (mtDNAcn) in children. METHODS:Leukocyte TL and mtDNAcn were measured by real-time PCR in 98 Mexican children 6-12 years of age from Salamanca, México. RESULTS:A positive association...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章


    authors: Alegría-Torres JA,Velázquez-Villafaña M,López-Gutiérrez JM,Chagoyán-Martínez MM,Rocha-Amador DO,Costilla-Salazar R,García-Torres L

    更新日期:2016-11-01 00:00:00

  • Analysis of Polymorphisms in the MATN3 and DOT1L Genes and CTX-II Urinary Levels in Patients with Knee Osteoarthritis in a Northeast Mexican-Mestizo Population.

    abstract:: Aims: To investigate the possible roles of the single nucleotide polymorphisms (SNPs) MATN3 (rs77245812) and DOT1L (rs12982744) with susceptibility to knee osteoarthritis (KOA) among mestizos from the northeast region of Mexico. In addition, we analyzed the relationship of...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 临床试验,杂志文章


    authors: García-Alvarado FJ,Delgado-Aguirre HA,Rosales-González M,González-Martínez MDR,Ruiz-Flores P,González-Galarza FF,Arellano Perez Vertti RD

    更新日期:2020-02-01 00:00:00

  • PARP-1 rs3219073 polymorphism may contribute to susceptibility to lung cancer.

    abstract:OBJECTIVE:To investigate the relationship between the PARP-1 rs3219073 C>G polymorphism and susceptibility to lung cancer in Chinese people. METHODS:In accordance with the case-control study principle, 645 of the patients had histologically recognized primary lung cancer, among them 240 had squamous carcinoma, 217 had...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 临床试验,杂志文章


    authors: Wang HT,Gao Y,Zhao YX,Yu H,Wang TL,Bai L,Chen YZ,Zhang HB,Zhou BS,Qu YL,Liu D,Chen Y

    更新日期:2014-11-01 00:00:00

  • Significance of genome-wide association studies in molecular anthropology.

    abstract::The successful advent of a genome-wide approach in association studies raises the hopes of human geneticists for solving a genetic maze of complex traits especially the disorders. This approach, which is replete with the application of cutting-edge technology and supported by big science projects (like Human Genome Pr...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章,评审


    authors: Gupta V,Khadgawat R,Sachdeva MP

    更新日期:2009-12-01 00:00:00

  • Filaggrin mutations in a Western siberian population and their association with atopic dermatitis in children.

    abstract::We determined the frequencies of null mutations of the FLG gene--2282del4, R501X, R2447X, 3702delG, S3247X, and the 12-repeat allele (rs12730241)--among 460 Caucasians of the city of Novosibirsk, Russia. The frequency was 17.7% for rs12730241, 2.73% for 2282del4, 0.22% for R501X, 0.33% for R2447X, and 0% for 3702delG ...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章,随机对照试验


    authors: Komova EG,Shintyapina AB,Makarova SI,Ivanov MK,Chekryga EA,Kaznacheeva LF,Vavilin VA

    更新日期:2014-12-01 00:00:00

  • DNA repair genes XRCC1 and ERCC1 polymorphisms and the risk of sporadic breast cancer in Han women in the Gansu Province of China.

    abstract:AIMS:Polymorphisms in DNA damage repair genes may affect DNA repair capacity and modulate breast cancer susceptibility. In this study, we aimed to analyze two polymorphisms for each of the DNA repair genes X-ray repair cross-complementing group 1 (XRCC1) rs25487 and rs1799782 and excision repair cross-complementing gro...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章


    authors: Zhu G,Wang L,Guo H,Lu L,Yang S,Wang T,Guo H,Wang H,Min J,Yang K,Chen X,Liu Y,Wang Z,Su H

    更新日期:2015-07-01 00:00:00

  • Association between the CTLA-4 +49A/G polymorphism and type 1 diabetes: a meta-analysis.

    abstract:BACKGROUND:+49A/G polymorphism of the cytotoxic T-lymphocyte-associated antigen-4 gene (CTLA-4) has been associated with type 1 diabetes (T1D). However, results were inconsistent. The aim of this study was to quantitatively summarize the evidence for CTLA-4 +49A/G polymorphism and T1D. METHODS:Electronic search of Pub...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章,meta分析


    authors: Si X,Zhang X,Luo Y,Tang W

    更新日期:2012-11-01 00:00:00

  • Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing.

    abstract:AIMS:To identify the pathogenic mutation underlying microcephaly primary hereditary (MCPH) in a large consanguineous Pakistani family. METHODS:A five-generation family with an autosomal recessive transmission of MCPH was recruited. Targeted next-generation DNA sequencing was carried out to analyze the genomic DNA samp...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章


    authors: Khan A,Wang R,Han S,Ahmad W,Zhang X

    更新日期:2018-03-01 00:00:00

  • Association Between the SNP rs143383 + 104T/C in the GDF5 Gene and the Risk of Knee Osteoarthritis in a Population from Northern Mexico-A Case-Control Study.

    abstract:BACKGROUND:Previous studies have found an association between the SNP rs143383 + 104T/C in the growth differentiation factor 5 (GDF5) gene and the risk of developing knee osteoarthritis (KOA) in various populations worldwide. OBJECTIVE:To discover if there is an association between the SNP rs143383 + 104T/C, in the GD...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章


    authors: García-Alvarado F,Rosales-González M,Arellano-Pérez-Vertti D,Espino-Silva P,Meza-Velazquez M,Ruiz-Flores P

    更新日期:2018-08-01 00:00:00

  • Higher DNA Yield for Epidemiological Studies: A Better Method for DNA Extraction from Blood Clot.

    abstract:BACKGROUND:Blood clots can be used to extract DNA, but they are not as widely used as whole blood or buffy coats. This is due not only because of the relatively low DNA yields and quality obtained from blood clots, but also because sampling prior to DNA extraction is more difficult. METHODS:To solve these problems, we...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章


    authors: Zhou G,Du Y,Wu Y,Wang WC

    更新日期:2019-01-01 00:00:00

  • Analysis of PTEN gene mutations in a Turkish patient with Cowden syndrome.

    abstract::Cowden syndrome (CS), an autosomal dominant disorder, is associated with germline mutations of the PTEN (phosphatase, tensin homolog, deleted on chromosome TEN) gene. PTEN mutations were linked to several human neoplasms. Clinical diagnosis has been based on Consortium criteria, but detection of mutations in the PTEN ...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章


    authors: Soysal Y,Tate G,Polat C,Polat N,Aktepe F,Sivaci Y,Imirzalioglu N

    更新日期:2009-08-01 00:00:00

  • Synergistic cytogenetic and antineoplastic effects by the combined action of esteric steroidal derivatives of nitrogen mustards.

    abstract::We studied the effect of five newly synthesized steroidal derivatives of nitrogen mustards. These derivatives have as alkylators either P-N, N-bis(2-chloroethyl)aminophenyl-butyrate (CHL) or P-N, N-bis(2-chloroethyl)aminophenyl-acetate (PHE) groups esterified with different modified steroidal nuclei. We examined them ...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章


    authors: Mourelatos C,Nikolaropoulos S,Fousteris M,Pairas G,Argyraki M,Kareli D,Dafa E,Mourelatos D,Lialiaris T

    更新日期:2012-06-01 00:00:00

  • Prenatal identification of a novel R937P L1CAM missense mutation.

    abstract::The L1 cell adhesion molecule (L1CAM) is a protein encoded by a gene that has been localized to Xq28, is a member of the immunoglobulin superfamily of neuronal cell adhesion molecules, and plays a role in CNS development and maturation. L1CAM is expressed in neurons and Schwann cells, where it is active in neurite ove...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章


    authors: Wilson PL,Kattman BB,Mulvihill JJ,Li S,Wilkins J,Wagner AF,Goodman JR

    更新日期:2009-08-01 00:00:00

  • Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes.

    abstract:: Aim: The aim of this study was to report a novel POU Class 3 Homeobox 4 (POU3F4) variant and to provide further guidance on genetic counseling for incomplete partition (IP) type III families in the Korean population by showing two new contrasting cases in terms of genotype...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章


    authors: Jang JH,Oh J,Han JH,Park HR,Kim BJ,Lee S,Kim MY,Lee S,Oh DY,Choung YH,Choi BY

    更新日期:2019-06-01 00:00:00

  • Association Between Polymorphisms of the Mannose-Binding Lectin and Severity of Periportal Fibrosis in Schistosomiasis, in the Northeast of Brazil.

    abstract:AIMS:Mannose-binding lectin (MBL) is a protein synthesized by the liver and its immune response is associated with the development of liver fibrosis. We hypothesized that the polymorphisms in the Exon 1 region (52, 54, 57) and promoter regions (-550 H/L, -221 X/Y) of the MBL2 gene were associated with the severity of p...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章


    authors: da Silva Constantino T,de Lima ELS,de Brito LRPB,Silva JL,Coêlho MRCD,Muniz MTC,Silva PCV,Domingues ALC

    更新日期:2017-09-01 00:00:00

  • Polymorphisms in the ERCC1 and XPF genes and risk of breast cancer in a Chinese population.

    abstract::Inherited functional single-nucleotide polymorphisms (SNPs) in DNA repair genes may influence the capability of DNA repair and contribute to the risk of breast cancer. We therefore performed a case-control study to investigate the association of three in excision repair cross-complimentary group 1 (ERCC1) and three in...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章,多中心研究,随机对照试验


    authors: Yang Z,Fang X,Pei X,Li H

    更新日期:2013-09-01 00:00:00

  • Characteristics of dystrophin gene mutations among Chinese patients as revealed by multiplex ligation-dependent probe amplification.

    abstract:AIMS:To verify whether dystrophin gene mutations among Chinese patients feature different types and frequencies from other populations. METHODS:Multiplex ligation-dependent probe amplification (MLPA) in combination with multiplex PCR (mPCR) and/or short tandem repeat (STR)-based linkage analysis were applied in a larg...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章


    authors: Wang Q,Li-Ling J,Lin C,Wu Y,Sun K,Ma H,Jin C

    更新日期:2009-02-01 00:00:00

  • Association of genetic polymorphism -670A>G in the Fas gene and serum markers AST platelet ratio index, AST/ALT with significant fibrosis and cirrhosis in chronic hepatitis C.

    abstract:AIM:This study was carried out to evaluate the association of genetic polymorphism -670A>G in the promoter of Fas gene as well as serum biomarkers aspartate aminotransferase (AST) platelet ratio index (APRI) and AST/alanine aminotransferase (ALT) with significant fibrosis and cirrhosis in chronic hepatitis C patients. ...

    journal_title:Genetic testing and molecular biomarkers

    pub_type: 杂志文章


    authors: Deghady A,Abdou A,El-Neanaey WA,Diab I

    更新日期:2012-06-01 00:00:00