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Titolo:
Highly polymorphic short tandem repeat analyses clarify complex molecular test results
Autore:
Lebo, RV; Maher, T; Farrer, L; Fenerci, EY; Milunsky, JM;
Indirizzi:
Boston Univ, Sch Med, Ctr Human Genet, Boston, MA 02118 USA Boston Univ Boston MA USA 02118 ed, Ctr Human Genet, Boston, MA 02118 USA Boston Univ, Sch Med, Dept Pediat, Boston, MA 02118 USA Boston Univ Boston MA USA 02118 ch Med, Dept Pediat, Boston, MA 02118 USA Boston Univ, Sch Med, Dept Med, Genet Program, Boston, MA 02118 USA BostonUniv Boston MA USA 02118 Med, Genet Program, Boston, MA 02118 USA Boston Univ, Sch Med, Dept Neurol, Boston, MA 02118 USA Boston Univ Boston MA USA 02118 ch Med, Dept Neurol, Boston, MA 02118 USA Boston Univ, Sch Publ Hlth, Dept Epidemiol & Biostat, Boston, MA USA Boston Univ Boston MA USA Hlth, Dept Epidemiol & Biostat, Boston, MA USA
Titolo Testata:
DIAGNOSTIC MOLECULAR PATHOLOGY
fascicolo: 3, volume: 10, anno: 2001,
pagine: 179 - 189
SICI:
1052-9551(200109)10:3<179:HPSTRA>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
SPINAL MUSCULAR-ATROPHY; GENE; MICROSATELLITES; DELETIONS; IDENTIFICATION; MUTATIONS; JEFFERSON; DISEASE; CHILD;
Keywords:
prenatal diagnosis; short tandem repeat polymorphisms; Y chromosome;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Lebo, RV Boston Univ, Sch Med, Ctr Human Genet, 715 Albany St, Boston, MA 02118 USA Boston Univ 715 Albany St Boston MA USA 02118 oston, MA 02118 USA
Citazione:
R.V. Lebo et al., "Highly polymorphic short tandem repeat analyses clarify complex molecular test results", DIAGN MOL P, 10(3), 2001, pp. 179-189

Abstract

Judicious application of highly polymorphic short tandem repeat (STR) analyses and modification of assay conditions readily distinguished nonparentage from true parentage, with occasional failure to transmit one parentally derived allele. These categories were resolved with a reliability of >99.9%,the standard applied to most DNA evidence presented in a U.S. court of law. While completing a single prenatal diagnosis submitted at 19 weeks gestation, the authors found that one polymorphic grandpaternal allele did not amplify, a duplicate control propositus' DNA sample had been switched by an outside laboratory, and recombination occurred in maternal meiosis within the mutant gene region. In two parentage cases with one available parent, a Y-linked STR or an autosomal STR was modified when transmitted to the offspring. In contrast, some apparently inconsistent results between parental DNAand off-spring were resolved by purifying or diluting the original extracted DNA samples. Thus, the source of each complex molecular test result was characterized unambiguously by testing a sufficient number of highly polymorphic STR loci and by purifying or diluting troublesome DNA samples to diminish polymerase chain reaction amplification artifact.

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Documento generato il 11/07/20 alle ore 16:43:18