Characterization and screening of a point mutation in LDL receptor gene found in southern Italy (FHAvellino).
Ann Ist Super Sanita
; 36(4): 459-64, 2000.
Article
em En
| MEDLINE
| ID: mdl-11367925
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Receptores de LDL
/
Mutação Puntual
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Limite:
Adult
/
Child
/
Female
/
Humans
/
Male
País/Região como assunto:
Europa
Idioma:
En
Revista:
Ann Ist Super Sanita
Ano de publicação:
2000
Tipo de documento:
Article
País de afiliação:
Itália