title: Characterization and screening of a point mutation in LDL receptor gene found in southern Italy (FHAvellino).
abstract: The finding that the missense mutation C331W in the exon 7 of LDL-receptor gene, previously reported to occur in Holland and Belgium, caused the homozygote familial hypercholesterolemia (FH) in an individual from the district of Avellino induced us to search the mutation in a large area of region Campania. This was made with simple screening methods developed by ourselves and based on either the recognition of a primer-induced Fok I restriction site in the mutant allele or the PCR allele-specific amplification (PASA) of mutant allele. They were applied to a total of 144 unrelated cases recruited from where the mutation was more likely to occur. We failed to reveal any new case of C331W mutation that is indeed not common within the area of this screening, at spite of having been found in different countries.
authors.affiliation: Laboratorio di Metabolismo e Biochimica Patologica, Istituto Superiore di Sanità, Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Cantafora
authors.forename: I
authors.initials: I
authors.lastname: Blotta
authors.forename: E
authors.initials: E
authors.lastname: Mercuri
authors.forename: C
authors.initials: C
authors.lastname: Cortese
authors.forename: C
authors.initials: C
authors.lastname: Motti
authors.forename: P
authors.initials: P
authors.lastname: Rampa
authors.forename: S
authors.initials: S
authors.lastname: Calandra
authors.forename: S
authors.initials: S
authors.lastname: Bertolini
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D011973:Receptors, LDL