| pubmed-article:8787693 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8787693 | lifeskim:mentions | umls-concept:C0005712 | lld:lifeskim |
| pubmed-article:8787693 | lifeskim:mentions | umls-concept:C0012854 | lld:lifeskim |
| pubmed-article:8787693 | lifeskim:mentions | umls-concept:C0032520 | lld:lifeskim |
| pubmed-article:8787693 | lifeskim:mentions | umls-concept:C0086142 | lld:lifeskim |
| pubmed-article:8787693 | lifeskim:mentions | umls-concept:C1521871 | lld:lifeskim |
| pubmed-article:8787693 | pubmed:issue | 9 | lld:pubmed |
| pubmed-article:8787693 | pubmed:dateCreated | 1996-10-22 | lld:pubmed |
| pubmed-article:8787693 | pubmed:abstractText | We have developed a new method for preimplantation diagnosis of inherited diseases. Our procedure for the identification of point mutations in single cells combines whole-genome amplification using 15-mer random primers (primer extension preamplification, PEP) with a single locus-specific PCR amplification, followed by detection of the mutation by solid-phase minisequencing. The procedure was evaluated by detecting three disease-causing mutations and seven polymorphic nucleotides located on different human chromosomes from single granuloma and blastomere cells. The correct genotype of the cell was identified at 96% of the nucleotide positions analyzed, showing that a representative part of the genome is amplified during PEP. We estimate that PEP yielded at least 1000 copies of the genome. The quantitative nature of the solid-phase minisequencing method allowed us to notice that preferential amplification of one allele occurs at heterozygous loci during PEP, which is a potential problem in preimplantation diagnosis. | lld:pubmed |
| pubmed-article:8787693 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8787693 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8787693 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:8787693 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8787693 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8787693 | pubmed:month | Sep | lld:pubmed |
| pubmed-article:8787693 | pubmed:issn | 0009-9147 | lld:pubmed |
| pubmed-article:8787693 | pubmed:author | pubmed-author:SyvänenA CAC | lld:pubmed |
| pubmed-article:8787693 | pubmed:author | pubmed-author:PaunioTT | lld:pubmed |
| pubmed-article:8787693 | pubmed:author | pubmed-author:ReimaII | lld:pubmed |
| pubmed-article:8787693 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8787693 | pubmed:volume | 42 | lld:pubmed |
| pubmed-article:8787693 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8787693 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8787693 | pubmed:pagination | 1382-90 | lld:pubmed |
| pubmed-article:8787693 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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| pubmed-article:8787693 | pubmed:meshHeading | pubmed-meshheading:8787693-... | lld:pubmed |
| pubmed-article:8787693 | pubmed:year | 1996 | lld:pubmed |
| pubmed-article:8787693 | pubmed:articleTitle | Preimplantation diagnosis by whole-genome amplification, PCR amplification, and solid-phase minisequencing of blastomere DNA. | lld:pubmed |
| pubmed-article:8787693 | pubmed:affiliation | Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland. | lld:pubmed |
| pubmed-article:8787693 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8787693 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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