Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease.

Autor:	Cristina González-González, M., Garcia-Hoyos, Maria, Trujillo-Tiebas, M. Jose, Aragonés, A. Bustamante, de Alba, M. Rodriguez, Alvarez, D. Diego, Diaz-Recasens, Joaquín, Ayuso, Carmen, Ramos, Carmen
Předmět:	PRENATAL diagnosis HUNTINGTON'S chorea diagnosis BLOOD plasma PREGNANCY complications FETAL research GENETIC mutation
Zdroj:	Journal of Assisted Reproduction & Genetics; Sep/Oct2008, Vol. 25 Issue 9/10, p477-481, 5p, 1 Graph
Abstrakt:	Purpose We focused on the improvements of prenatal diagnosis by the analysis of DNA from maternal plasma, using Huntington disease as a model of disease. Methods We studied plasma from a pregnancy at risk of having a fetus affected with Huntington disease by the use of two direct analysis of the mutation and polymorphic STRs. Results Direct methods were not informative. Analysis with STRs revealed the presence of the allele that does not cosegregate with the disease, thus the fetus was healthy. Conclusions This strategy is very useful to face complex cases when the direct study is not informative not only for Huntington disease but also for many other disorders. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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