Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis

Wijaya Yogik Onky Silvana; Nishio Hisahide; Niba Emma Tabe EkoShiroshita TomoyoshiKato MasakoBouike YoshihiroTode ChisatoRochmah Mawaddah ArHarahap Nur Imma FatimahNurputra Dian KesumapramudyaOkamoto KentaroSaito ToshioTakeuchi AtsukoSan Lai PohYamaguchi SeijiShinohara Masakazu

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Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis

机译：脊柱干血现货筛选系统肌肉萎缩Allele-Specific聚合酶连锁反应和融化的峰值分析

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Background and Aim: Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive inheritance caused by homozygous SMN1 deletions. Although SMA has been considered as incurable, newly developed drugs improve life prognoses and motor functions of patients. To maximize the efficacy of the drugs, SMA patients should be treated before symptoms become apparent. Thus, newborn screening for SMA is strongly recommended. In this study, we aim to establish a new simple screening system based on DNA melting peak analysis.

机译：背景和目的:脊髓性肌萎缩(SMA)较低和常染色体运动神经元疾病吗隐性遗传纯合子SMN1所致删除。无法治愈的,新开发药物改善生活预测和运动功能的患者。药物的功效最大化,SMA患者应该治疗前症状明显。强烈推荐。建立一个新的简单的筛选系统DNA分析峰值融化。

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来源
《Genetic testing and molecular biomarkers》 |2021年第4期|293-301|共9页
作者
Wijaya Yogik Onky Silvana; Nishio Hisahide; Niba Emma Tabe EkoShiroshita TomoyoshiKato MasakoBouike YoshihiroTode ChisatoRochmah Mawaddah ArHarahap Nur Imma FatimahNurputra Dian KesumapramudyaOkamoto KentaroSaito ToshioTakeuchi AtsukoSan Lai PohYamaguchi SeijiShinohara Masakazu;
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作者单位

Kobe Gakuin Univ, Fac Nutr, Kobe, Hyogo, Japan;

Natl Hosp Org Osaka Toneyama Med Ctr, Dept Neurol, Toyonaka, Osaka, Japan;

Shimane Univ, Dept Pediat, Sch Med, Izumo, Shimane, JapanUniv Gadjah Mada, Fac Med Publ Hlth & Nursing, Dept Pediat, Yogyakarta, IndonesiaKobe Univ, Dept Community Med & Social Healthcare Sci, Grad Sch Med, Kobe, Hyogo, JapanUniv Gadjah Mada, Fac Med Publ Hlth & Nursing, Dept Clin Pathol & Lab Med, Yogyakarta, IndonesiaKobe Pharmaceut Univ, Instrumental Anal Ctr, Kobe, Hyogo, JapanEhime Prefectural Imabari Hosp, Dept Pediat, Imabari, JapanUniv Gadjah Mada, Fac Med, Dept Neurol, Yogyakarta, IndonesiaKobe Gakuin Univ, Fac Med Rehabil, Kobe, Hyogo, JapanNatl Univ Singapore, Dept Pediat, Singapore, Singapore;

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原文格式 PDF
正文语种英语
中图分类遗传学;
关键词
SMN1 gene; screening system; Dried Blood Spot TestingLower Motor Neuron Diseaseautosomal recessive inheritance;

机译：SMN1基因;筛查系统;干血TestingLower运动神经元Diseaseautosomal隐性遗传;

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1. Diagnosis of Progressive Spinal Muscular Atrophy by Using Polymerase Chain Reaction [J] . 姚娟, 丁新生, 陈克连, 生物医学研究杂志（英文版） . 2001,第2期
2. Improved Allele-specific Polymerase Chain Reaction for Single Nucleotide Polymorphism Genotyping [J] . WU Mei, DU Zhen-wu, LIU Jia-nan, 高等学校化学研究：英文版 . 2010,第2期
3. Improved Allele-specific Polymerase Chain Reaction for Single Nucleotide Polymorphism Genotyping [J] . WU Mei, DU Zhen-wu, LIU Jia-nan, 高等学校化学研究（英文版） . 2010,第2期
4. Two－step　multiplex　polymerase　chain　reaction　for　gene　diagnosis　of　progressive　pseudohypertrophic　muscular　dystrophy [J] . 谭庆荣, 吴保仁, 王连钢中国人民解放军军医大学学报：英文版 . 1994,第3期
5. A Rapid, Accurate and Simple Screening Method for Spinal Muscular Atrophy: High-Resolution Melting Analysis Using Dried Blood Spots on Filter Paper [J] . Saadah Nihayatus, Harahap Nur Imma Fatimah, Nurputra Dian KesumapramudyaRochmah Mawaddah ArMorikawa SatoruNishimura NoriyukiSadewa Ahmad HamimAstuti IndwianiHaryana Sofia MubarikaSaito ToshioSaito KayokoNishio Hisahide Clinical laboratory . 2015,第6期

机译：A Rapid, Accurate and Simple Screening Method for Spinal Muscular Atrophy: High-Resolution Melting Analysis Using Dried Blood Spots on Filter Paper
6. Detection of Pathogens of Acute Febrile Illness Using Polymerase Chain Reaction from Dried Blood Spots [J] . Grundy Brian, Panzner Ursula, Liu JieJeon Hyon JinIm Justinvon Kalckreuth VeraKonings FrankPak Gi DeokEspinoza Ligia Maria CruzBassiahi Abdramane SouraGasmelseed NaglaRakotozandrindrainy Raphae L.Stroup SuzanneHoupt EricMarks Florian The American Journal of Tropical Medicine and Hygiene . 2022,第2期

机译：Detection of Pathogens of Acute Febrile Illness Using Polymerase Chain Reaction from Dried Blood Spots
7. Rapid preparation of genomic DNA from dried blood and saliva spots for polymerase chain reaction [J] . Yuri A. Berlin, Haig H. Kazazian human mutation . 1992,第3期

机译：Rapid preparation of genomic DNA from dried blood and saliva spots for polymerase chain reaction
8. "Human T-cell leukemia virus type 1(HTLV1) infection in malignant lymphomas in a HTLV1-endemic area, Kagoshima, Japan : HTLV-1 in-situ-hybridization (ISH) analysis employing a highly biotinylated concatamer probe synthesized by polymerase chain reaction (PCR) for HTLV-1 proviral DNA pX Tax region" [O] . Hasui Kazuhisa, Sato Eiichi 100

机译："Human T-cell leukemia virus type 1(HTLV1) infection in malignant lymphomas in a HTLV1-endemic area, Kagoshima, Japan : HTLV-1 in-situ-hybridization (IsH) analysis employing a highly biotinylated concatamer probe synthesized by polymerase chain reaction (pCR) for HTLV-1 proviral DNa pX Tax region"

Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis

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