IP: Dr. Sergio Castillo Fernández

Resumen del proyecto: We should want to develop LDLr gene analysis by using several molecular biology techniques, in all the requested DNA samples.
Our results should be useful to confirm the presence of different SPNs already detected in LDLr gene during precedent analysis.
In the last months, the presence of intronic DNA variants along the whole genome, and concretely those located in LDLr gene, and their responsibility in the development of hypercholesterolemic phenotype are under discussion.
Although the most of researchers consider that only mutations in the crucial sequences for the splicing processas able to cause familial hypercholesterolemia (FH), several recent studies have shown that also those variants located so far in the intronic sequences should be responsible for the disease.
In the last years, with the collaboration of other groups, we have already detected several intronic defects along the LDLr gene, but we still do not know their real frecuency and their functional implication.
In order to clarify if some of those defects are really polymorphic variants, we should develop this analysis of randomly selected general population samples.
In this way, we should amplify the whole LDLr gene by multiplex-PCR, enzimatically purified this fragments and automatically sequenced by using an automatic sequencer, MegaBace 1000 (Amersham GE).

Entidad financiadora: LACER, S.A.