| pubmed-article:17041903 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:17041903 | lifeskim:mentions | umls-concept:C0086418 | lld:lifeskim |
| pubmed-article:17041903 | lifeskim:mentions | umls-concept:C1511790 | lld:lifeskim |
| pubmed-article:17041903 | lifeskim:mentions | umls-concept:C0079419 | lld:lifeskim |
| pubmed-article:17041903 | lifeskim:mentions | umls-concept:C0544886 | lld:lifeskim |
| pubmed-article:17041903 | lifeskim:mentions | umls-concept:C0314672 | lld:lifeskim |
| pubmed-article:17041903 | lifeskim:mentions | umls-concept:C1521871 | lld:lifeskim |
| pubmed-article:17041903 | lifeskim:mentions | umls-concept:C1706937 | lld:lifeskim |
| pubmed-article:17041903 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:17041903 | pubmed:dateCreated | 2007-1-22 | lld:pubmed |
| pubmed-article:17041903 | pubmed:abstractText | 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. | lld:pubmed |
| pubmed-article:17041903 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17041903 | pubmed:language | eng | lld:pubmed |
| pubmed-article:17041903 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17041903 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:17041903 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17041903 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:17041903 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:17041903 | pubmed:issn | 1098-1004 | lld:pubmed |
| pubmed-article:17041903 | pubmed:author | pubmed-author:LiuQiangQ | lld:pubmed |
| pubmed-article:17041903 | pubmed:author | pubmed-author:SommerSteve... | lld:pubmed |
| pubmed-article:17041903 | pubmed:author | pubmed-author:ShiJinxiuJ | lld:pubmed |
| pubmed-article:17041903 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:17041903 | pubmed:volume | 28 | lld:pubmed |
| pubmed-article:17041903 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:17041903 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:17041903 | pubmed:pagination | 131-6 | lld:pubmed |
| pubmed-article:17041903 | pubmed:dateRevised | 2007-12-3 | lld:pubmed |
| pubmed-article:17041903 | pubmed:meshHeading | pubmed-meshheading:17041903... | lld:pubmed |
| pubmed-article:17041903 | pubmed:meshHeading | pubmed-meshheading:17041903... | lld:pubmed |
| pubmed-article:17041903 | pubmed:meshHeading | pubmed-meshheading:17041903... | lld:pubmed |
| pubmed-article:17041903 | pubmed:meshHeading | pubmed-meshheading:17041903... | lld:pubmed |
| pubmed-article:17041903 | pubmed:meshHeading | pubmed-meshheading:17041903... | lld:pubmed |
| pubmed-article:17041903 | pubmed:meshHeading | pubmed-meshheading:17041903... | lld:pubmed |
| pubmed-article:17041903 | pubmed:meshHeading | pubmed-meshheading:17041903... | lld:pubmed |
| pubmed-article:17041903 | pubmed:meshHeading | pubmed-meshheading:17041903... | lld:pubmed |
| pubmed-article:17041903 | pubmed:year | 2007 | lld:pubmed |
| pubmed-article:17041903 | pubmed:articleTitle | Detection of ultrarare somatic mutation in the human TP53 gene by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification. | lld:pubmed |
| pubmed-article:17041903 | pubmed:affiliation | Department of Molecular Genetics and Molecular Diagnosis, City of Hope National Medical Center, Duarte, California 91010-3000, USA. sommerlab@coh.org | lld:pubmed |
| pubmed-article:17041903 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:17041903 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
| pubmed-article:17041903 | pubmed:publicationType | Validation Studies | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:17041903 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:17041903 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:17041903 | lld:pubmed |
