Biopolymers and cell. 1990. Volume 6. № 1. 56 - 63
Yu. Mandelshtam, L. K. Sasina, A. L. Schwarizman
DNA-DIAGNOSTICS OF FAMILIAL HYPERCHOLESTEROLEMIA M.
Summary
Familial hypercholesterolemia (FH) is one of the most common human genetic diseases. This inborn error of metabolism is connected with mutations in the low density lipoprotein receptor (LDLR) gene. DNA diagnostics is not only a method of the highest validity for FH determination, but also this method permits detecting the disease before the appearance of clinical disorders. The construction of DNA probes necessary for FH diagnostics based on determination of the LDLR gene restriction fragment length polymorphisms (RFLPs) has been described in the paper. The Pvull, BstEII, Avail, Ncol and Taql RFLPs are regarded to be helpful markers in FH family study. A new polymorphic variant of the LDLR gene for the enzyme Ecorl is described.