Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers.
AUTOR(ES)
Lavedan, C
RESUMO
We report on two cases of prenatal diagnosis of myotonic dystrophy (DM), using flanking markers APOC2 or CKMM on the proximal side and D19S51 on the distal side. By double digestion (TaqI and NcoI) of PCR amplified CKMM, the informativeness was increased from a PIC value of 0.57 to 0.69. Altogether, with a PIC value of 0.64 for APOC2, 0.69 for CKMM, and 0.27 for D19S51 (BglI), presymptomatic and prenatal diagnosis can thus be offered to approximately 24% of persons with a risk between 0.0004 and 0.0008 using these flanking markers.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1016774Documentos Relacionados
- Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers.
- Presymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers.
- Rapid prenatal diagnosis of myotonic dystrophy in the second trimester using polymerase chain reaction
- Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers.
- Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers.