Biopolymers and cell. 1991. Volume 7. № 3. 38 - 45

MANDELSHTAM M. Ju., LIPOVETSKYI B. M., SCHWARZMAN A. L GAITSKHOKI V. S.

Identification of a New Deletion in the Human Low Density Lipoprotein Receptor Gene in a Patient with Familial Hypercholesterolemia

Summary

    Familial hypercholesterolemia (FH) is an autosomal dominant human genetic disease, caused at the molecular level by different mutations in the low density lipoprotein receptor (LDLR) gene. In this paper we describe a new LDLR gene deletion 5 kb in length from a patient with FH phenotype. The deletion is shown to eliminate c.xons 4 and 5 from the gene and also with a high probability exon 6 of the gene. The elucidation of the nature of inherited disorder makes it possible to perform the early FH diagnostics in children of the sick patient. The role of individual differences in FH development is discussed.