CASCADE GENETIC SCREENING FOR FAMILIAL HYPERCHOLESTEROLEMIA
M.I. Voevoda, E.V. Shakhtshneider, K.V. Makarenkova, D.E. Ivanoshchuk, P.S. Orlov, Yu.I. Ragino
FSBSI В«Institute of Internal and Preventive Medicine», 630089, Novosibirsk, Boris Bogatkov str., 175/1
Keywords: cascade genetic screening, familial hypercholesterolemia, low density lipoprotein receptor gene, proprotein convertase subtilisin/kexin 9 gene, apolipoprotein B gene, mutations
Abstract
Familial hypercholesterolemia (FH) is one of the most common congenital metabolic disorders. Cascade genetic screening used for diagnostic of patients with FH. Aim of study is to explore the awareness of FH patients of the problem of familial hypercholesterolemia and conduct a pilot study of patients with FH using the principle of a cascade genetic screening. The study was performed in patients with a clinical diagnosis of “definite” FH. The study was approved ethics committee. Target was selected for high-throughput sequencing (GS Junior, Roche). Participation in the survey was voluntary and anonymous. An analysis of the responses to the questions provided data on the lack of awareness of patients with the FH about the problem. Certain mutations in this study and LDLR gene polymorphisms confirmed genetic heterogeneity of the spectrum of structural modifications of LDL receptor gene in patients with FH.
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