Detection of ultrarare somatic mutation in the human TP53 gene by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification.

Detection of ultrarare somatic mutation in the human TP53 gene by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification. Research Abstract Details 

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Detection of ultrarare somatic mutation in the human TP53 gene by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification. Abstract Text:

Jinxiu Shi,Qiang Liu,Steve S Sommer,

The detection of ultra-rare mutation in the presence of excess amounts of normal genomic DNA is highly advantageous in a number of circumstances, including: 1) identification of minimal residual disease for improved cancer chemotherapy; 2) measurement of mutation load to assess environmental mutagen exposure or endogenous DNA repair; and 3) prenatal diagnosis of paternally-derived mutations within fetal cells in the maternal circulation. Bidirectional pyrophosphorolysis activated polymerization allele-specific amplification (Bi-PAP-A) utilizes two opposing 3'-terminal blocked oligonucleotides (P(*)s) with 1 nucleotide overlap at their 3' termini. The selectivity of Bi-PAP-A derives from the serial coupling of pyrophosphorolysis and DNA polymerization. A total of 13 Bi-PAP-A assays were developed and validated for the human p53 gene (TP53). The sensitivity and specificity of each assay were determined with mutated and wild-type DNA templates, respectively. Bi-PAP-A has a sensitivity of one molecule for most assays and a selectivity (sensitivity:specificity) greater than 1:10(7)-1:10(9) for four of all six mutation types. Four assays with high selectivity were used to detect rare somatic mutations in blood white cells. The silent g.13147C>G (p.R156) mutation was present at an estimated frequency of 1.1 x 10(-7). The g.14523A>T (p.E285V), g.14487G>C (p.R273P), and g.14060G>C (p.G245R) mutations were undetectable with frequencies less than 2.0 x 10(-8). We conclude that Bi-PAP-A is a general and rapid method for detecting ultra-rare mutations.

Detection of ultrarare somatic mutation in the human TP53 gene by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification. Publishing Authors By Initials

J Shi,Q Liu,SS Sommer,

For similar investigative techniques: epidemiologic methods: statistics as topic: sensitivity and specificity research abstracts see: investigative techniques: epidemiologic methods: statistics as topic: sensitivity and specificity research

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Detection of ultrarare somatic mutation in the human TP53 gene by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification. Journal Published:

PUBLICATION TYPE: Validation Studies

Journal: Human mutation

VOLUME: 28

Page Numbers: 131-6

Journal Abbreviation: Hum. Mutat.

ISSN: 1098-1004

DAY: 3

MONTH: Feb

YEAR: 2007

Detection of ultrarare somatic mutation in the human TP53 gene by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification. Information

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LANGUAGE: eng

NlmUniqueID: 9215429

Detection of ultrarare somatic mutation in the human TP53 gene by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification. Keywords Mesh Terms:

KEYWORDS: Sensitivity and Specificity

MESH TERMS: methods

Chemical & Substance for Abstract: Detection of ultrarare somatic mutation in the human TP53 gene by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification. Information

Substance Name: Diphosphates

Registry Number: 0

Grant and Affiliation Information for Detection of ultrarare somatic mutation in the human TP53 gene by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification.

AFFILIATION: Department of Molecular Genetics and Molecular Diagnosis, City of Hope National Medical Center, Duarte, California 91010-3000, USA. sommerlab@coh.org

Country: United States

AGENCY: United States NCI

GRANT: R33 CA94334

ACRONYM: CA

MEDLINETA: Hum Mutat

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