28 de Novembro, 2009
“O Diagnóstico da Hipercolesterolémia Familiar em Portugal”, Tese de Mestrado da Dra. Vânia Francisco
Pode fazer o download desta Tese aqui (ficheiro com 2.3 Mb).
| Título: |
The Diagnosis of familial hypercholesteterolemia in Portugal (pdf) |
| Autor: | Francisco, Vânia |
| Supervisors: | Bailey, Tracey A. (supervisor) |
| Date: | 2007 |
| Resumo: | Familial hypercholesterolaemia (FH) is an autosomal dominant genetic disorder caused, in the majority of cases, by a partial or total lack of function of low density lipoprotein receptor (LDLR) and is characterized by an increased serum LDL cholesterol level, resulting in excess deposition of cholesterol in tissues, that leads to atherosclerosis and to an increased risk of premature coronary heart disease. The homozygous form of FH is rare but heterozygous FH is common, although is still underdiagnosed in many populations, including the Portuguese. The aim of the Portuguese Familial Hypercholesterolaemia Study is to perform an epidemiological study to determine the prevalence and distribution of FH in Portugal. Since 1999 DNA samples from clinically diagnosed FH patients have been analysed for the presence of LDLR and ApoB gene mutations by the Cardiovascular research Unit in the National Institute of Health of Portugal. Between May and July of 2007 a genetic analysis was performed in 30 unrelated index patients (5 children and 25 adults). All 18 exons of the LDLR and 2 exons from APOB genes were individually amplified from genomic DNA by PCR using Ampli-Taq DNA polymerase. Direct sequencing of the LDLR gene from the 30 index patients and from 20 relative family members was performed. A total of 14 different mutations were found in the LDL receptor gene of 15 index patients and in 9 affected relatives, comprising 9 missense alterariosn and one nonsense mutation, two frameshift mutations and two silent alterations, One new alterarion was found in exon 26 of the APOB gene of one index patient Genetic diagnosis enables correct identification of the mutation causative of disease and the early identification of affected family members, reducing the risk of premature coronary heart disease. |
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