Two Novel Slavic Point Mutations in the Low-Density Lipoprotein Receptor Gene in Patients with Familial Hypercholesterolemia from St. Petersburg, Russia

Autor: Kh., Chakir, Skobeleva, Natalia A., Shevtsov, Sergei P., Konstantinov, Vladimir O., Denisenko, Alexander D., Schwartz, Eugene I.
Zdroj: Molecular Genetics and Metabolism; January 1998, Vol. 63 Issue: 1 p31-34, 4p
Abstrakt: Using PCR-single-strand conformation polymorphism analysis, followed by sequencing of the abnormal samples, two novel point mutations in the 5′ end of the fourth exon of the low-density lipoprotein receptor gene were found in two Russian families with familial hypercholesterolemia. These missense mutations consist of C127W and C139G transitions and result in a loss of one of three disulfide bonds in the fourth cysteine-rich repeat of the ligand-binding domain of the low-density lipoprotein receptor. Hypercholesterolemia segregated with the identified mutations.
Databáze: Supplemental Index
Externí odkaz: