| Autor: |
Komarova TY; Institute of Experimental Medicine, North-Western Division of the Russian Academy of Medical Sciences, St. Petersburg, Russia. michail@MM13666.spb.edu., Golovina AS, Grudinina NA, Zakharova FM, Korneva VA, Lipovetskii BM, Serebrenitskaya MP, Konstantinov VO, Vasilyev VB, Mandelshtam MY |
| Jazyk: |
angličtina |
| Zdroj: |
Bulletin of experimental biology and medicine [Bull Exp Biol Med] 2013 Jul; Vol. 155 (3), pp. 380-3. |
| DOI: |
10.1007/s10517-013-2159-4 |
| Abstrakt: |
The search for two mutations, FH-Helsinki and FH-North Karelia, in LDL receptor gene was carried out in patients with familial hypercholesterolemia from St. Petersburg (80 families) and Petrozavodsk (80 families) using allele-specific PCR and analysis of single-stranded DNA fragment conformation polymorphism (SSCP analysis) with subsequent sequencing. The FH-North Karelia mutation was found in one family in St. Petersburg and in one family in Petrozavodsk, while FH-Helsinki mutation was not detected in any of the samples. Hence, the two "Finnish" mutations together responsible for 2/3 familial hypercholesterolemia cases in Finland were extremely rare in the Russian regions neighboring Finland. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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