| Autor: |
El Messal, Mariame, Aït Chihab, Karima, Chater, Rachid, Vallvé, Joan Carles, Bennis, Faïza, Hafidi, Aïcha, Ribalta, Josep, Varret, Mathilde, Loutfi, Mohammed, Rabès, Jean Pierre, Kettani, Anass, Boileau, Catherine, Masana, Luis, Adlouni, Ahmed |
| Předmět: |
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| Zdroj: |
Journal of Human Genetics; 2003, Vol. 48 Issue 4, p199, 5p |
| Abstrakt: |
Familial hypercholesterolemia (FH) is a genetic disorder mainly caused by defects in the low-density lipoprotein receptor (LDLR) gene, although it can also be due to alterations in the gene encoding apolipoprotein B (familial defective apoB or FDB) or in other unidentified genes. In Morocco, the molecular basis of FH is unknown. To obtain information on this issue, 27 patients with FH from eight unrelated families were analyzed by screening the LDLR (PCR-SSCP and Southern blot) and apoB genes (PCR and restriction enzyme digestion analysis). None of the patients carried either the R3500Q or the R3531C mutation in the apoB gene. By contrast, seven mutations in the LDLR gene were identified, including five missense mutations on exons 4, 6, 8, and 14 (C113R, G266C, A370T, P664L, C690S) and two large deletions (FH Morocco-1 and FH Morocco-2). The two major rearrangements and the missense mutation G266C are novel mutations and could well be causative of FH in the Moroccan population. This study has yielded preliminary information on the mutation spectrum of the LDLR gene among patients with FH in Morocco. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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