PCR Based Mutation Detection

PCR 반응을 시행한다.2) SSCP(Single Strand Conformation Polymorphism)어떤 입자들의 전기장 내에서의 이동속도는 그 입자의 크기와 형태에 영향을 받는다. Single strand DNA는 non-denaturing 조건하에서 분자내의 상호작용에 의하여 2차 구조를 형성하게 되는데 이 2차 구조는 DNA의 염기서열에 의하여 결정돤다. 그러므로 DNA 염기서열중 하나의 염기서열의 변화(point mutation, deletion 또는 insertion)에 의해서도 전기영동상 전개되는 속도에 영향을 받으므로 이동거리에 차이가

base pairs.12Females : DMD gene on the X chromosome.Females:carriers (XX`), 50% chance of transmitting the disease in each pregnancy.Sons(X`Y) : DMD patientsDaughters(XX`) : CarrierThe DMD gene-Xp 21 131416Type I are slow twitch and fatigue resistantType II are fast twitch but easily fatiguedTherefore, type 1 are spared in mm of DMD patients and the degen occurs in type II fast twitch fibersnew mutation- stop mutation, splicing mutation, duplication, deletion, point mutation17Nine selected exons of the dystrophin gene have been amplified from the DNA of a panel of 20 affected b

detected as early as 2 days and usually within 7 days on primary isolation from specimens collected from children.A variety of antigen detection tests have been developed for more rapid diagnosis. PCR-based respiratory viral multiplex assayCoronavirusesCommon symptoms: fever, chills and/or rigors, myalgias, and occasionally diarrhea. Common findings on chest CT include unilateral or bilateral ground-glass opacifications, and interlobular septal and intralobular interstitial thickening.DIAGNOSISPCR detection of viral replication of HuCoV-SARS in the sputum, may also be detected in the b

PCR 시에 Squence가 부착되면서hairpin구조가 열리고 R과Q가 갈라짐- 이때 R에서 형광신호 방출1) Deletion or Insertion축적되는 과정에서 amplicon squence에 특이적인 probe나, double-stran에 특이적인 dye의 형괄물질 발현 모니터링이것을 Curve로 나타냄->병의 여부조사가능1. 분자유전학적 유전병 진단 방법“Mini sequencing”Primer Extension이라고도 함 Unlabeled oligonucleotide primer에 단일의 ddNTP(Dideoxynucleotide)를 연장함Target gene의 SNP의 Mutation을 알아낼 수 있음Target base(

PCR 확진 (Confirmed Case) a person with an influenza-like-illness laboratory confirmed novel influenza A (H1N1) virus infection by one or more of the following tests: 1. real-time RT-PCR 2. viral culture Laboratory diagnosis of respiratory viral diseasesDiagnostic MethodsVirus cultureDirect detection methodNucleic acid amplificationVirus cultureSARS virus Cytopathic effect (CPE)Time-consumingSkillful techniquesDirect detection methodImmunofluorescence stainingRSVIndividual diagnosis Multiplex real-time RT-PCRRapid (few hours)Multiple viral detectionNo requirement fo