Abstract

AZOFEIFA, Jorge  and  SANCHO-FERNANDEZ, Vanessa M.. Estimación de dosis génica mediante PCR-múltiplex y electroforesis capilar fluorescente en posibles portadoras de deleciones en el gen de la distrofina, Costa Rica 1998- 2000. Acta pediátr. costarric [online]. 2001, vol.15, n.2, pp.64-77. ISSN 1409-0090.

Objective To quantitate gene doses at the dystrophin locus in women at risk of being carriers of deletions. Place where the work was performed: INISA and Escuela de Biología, Universidad de Costa Rica. Materiais and methods. Fifteen women were identified in a previous study to be at increased risk of being carriers of deletions at the dystrophin gene -they are first-degree relativas of patients suffering from DMD/BMD which owe their affection to deletions at the gene. DNAs of these women were used to amplify 7 to 9 regions of the gene by PCR-multiplex. To estímate gene doses the Fprimer of each pair was labeled with 6-FAM and the amplification products were separated and quantitated by fluorescent capillar electrophoresis. Results None of the 15 putative carriers showed evidence of carrying the deletions that affect the index patients in their families. Conclusions All index patients in the families of the carriers analyzed are affected by de novo mutations, an unexpected result according to data of other countries. The data add another, very valuable criterion to offer genetic counseling to the putative carriers.

Keywords : Duchenne; Becker-Kiener.