Familial defect of apolipoprotein В-100: molecular disease basis and clinico-biochemical characteristics of the patients
| Autor: | P. P. Malyshev, A. N. Meshkov, L. A. Kotova, V. V. Kukharchuk |
|---|---|
| Jazyk: | ruština |
| Rok vydání: | 2007 |
| Předmět: | |
| Zdroj: | Кардиоваскулярная терапия и профилактика, Vol 6, Iss 6, Pp 40-45 (2007) |
| Druh dokumentu: | article |
| ISSN: | 1728-8800 2619-0125 |
| Popis: | Aim. To identify character and prevalence of apolipoprotein (apo) B-100 gene mutation in patients with clinical diagnosis of heterozygote familial hypercholesterolemia (FH); to describe its phenotypical features in mutation carriers. Material and methods. In 111 patients with clinical diagnosis of heterozygote FH, screening for exon 26 apo B-100 gene mutations was performed. For DNA analysis, allele-specific PCR, restriction analysis, analysis of DNA single-strand conformation polymorphism (SSCP), and sequestering of DNA fragments with anomaly electrophoretic activity were used. Results. In patients with clinics of heterozygote FH, 4,5% had apo B-100 gene mutation. R3500Q mutation was the only apo B-100 gene structure anomaly observed in these individuals. Compared to patients with low-density lipoprotein (LDL) receptor mutation, subjects with apo B-100 defect had less manifested HCH. Conclusion. R3500Q mutation of apo B-100 gene, together with LDL receptor mutations, partially explain high CH levels in Russian patients. Other mutations of this protein’s exon 26 could be very rare. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
|